Approved Symbol	Phenotypes
CCV	Cataract 8, multiple types, Autosomal dominant
MYP14	Myopia 14
SCASI	Spinocerebellar ataxia, autosomal recessive 4, Autosomal recessive
ISG15	Immunodeficiency 38, Autosomal recessive
AGRN	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive
B3GALT6	Ehlers-Danlos syndrome, progeroid type, 2, Autosomal recessive;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Autosomal recessive
DVL1	Robinow syndrome, autosomal dominant 2, Autosomal dominant
ATAD3A	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant
TMEM240	Spinocerebellar ataxia 21, Autosomal dominant
GNB1	Leukemia, acute lymphoblastic, somatic;Mental retardation, autosomal dominant 42, Autosomal dominant
SKI	Shprintzen-Goldberg syndrome, Autosomal dominant
DYT13	Dystonia 13, torsion, Autosomal dominant
PEX10	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive
PRDM16	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant
CEP104	Joubert syndrome 25, Autosomal recessive
DFNB96	Deafness, autosomal recessive 96, Autosomal recessive
NPHP4	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive
ESPN	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive
CAMTA1	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant
GLC3B	Glaucoma 3, primary infantile, B, Autosomal recessive
PARK7	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive
RERE	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant
ENO1	Enolase deficiency (1)
H6PD	Cortisone reductase deficiency 1, Autosomal recessive
PIK3CD	Immunodeficiency 14, Autosomal dominant
NMNAT1	Leber congenital amaurosis 9, Autosomal recessive
KIF1B	Pheochromocytoma, Autosomal dominant
PEX14	Peroxisome biogenesis disorder 13A (Zellweger), Autosomal recessive
TARDBP	Amyotrophic lateral sclerosis 10, with or without FTD, Autosomal dominant;Frontotemporal lobar degeneration, TARDBP-related, Autosomal dominant
MASP2	MASP2 deficiency, Autosomal recessive
MTOR	Smith-Kingsmore syndrome, Autosomal dominant
UBIAD1	Corneal dystrophy, Schnyder type, Autosomal dominant
MTHFR	Homocystinuria due to MTHFR deficiency, Autosomal recessive
NPPA	Atrial fibrillation, familial, 6, Autosomal dominant;Atrial standstill 2, Autosomal recessive
PLOD1	Ehlers-Danlos syndrome, type VI, Autosomal recessive
MFN2	Charcot-Marie-Tooth disease, axonal, type 2A2A, Autosomal dominant;Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal recessive;Hereditary motor and sensory neuropathy VIA, Autosomal dominant
GBD2	Gallbladder disease 2
ANIB3	Aneurysm, intracranial berry, 3, Autosomal dominant
CLCNKA	Bartter syndrome, type 4b, digenic, Digenic recessive
CLCNKB	Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive
EPHA2	Cataract 6, multiple types, Autosomal dominant
ATP13A2	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive
SDHB	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant
PADI3	Uncombable hair syndrome, Autosomal recessive
PADI6	Preimplantation embryonic lethality 2, Autosomal recessive
PAX7	Rhabdomyosarcoma 2, alveolar, Autosomal recessive
ALDH4A1	Hyperprolinemia, type II, Autosomal recessive
EMC1	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive
PINK1	Parkinson disease 6, early onset, Autosomal recessive
ALPL	Hypophosphatasia, adult, Autosomal recessive, Autosomal dominant;Hypophosphatasia, childhood, Autosomal recessive;Hypophosphatasia, infantile, Autosomal recessive;Odontohypophosphatasia, Autosomal recessive, Autosomal dominant
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive
CDC42	Takenouchi-Kosaki syndrome
WNT4	Mullerian aplasia and hyperandrogenism, Autosomal dominant
C1QA	C1q deficiency, Autosomal recessive
C1QC	C1q deficiency, Autosomal recessive
C1QB	C1q deficiency, Autosomal recessive
KDM1A	Cleft palate, psychomotor retardation, and distinctive facial features, Autosomal dominant
RPL11	Diamond-Blackfan anemia 7, Autosomal dominant
GALE	Galactose epimerase deficiency, Autosomal recessive
HMGCL	HMG-CoA lyase deficiency, Autosomal recessive
FUCA1	Fucosidosis, Autosomal recessive
GRHL3	Van der Woude syndrome 2, Autosomal dominant
RHCE	Rh-null disease, amorph type (3)
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive
SELENON	Muscular dystrophy, rigid spine, 1, Autosomal recessive;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant
SLC30A2	Zinc deficiency, transient neonatal, Autosomal dominant
DHDDS	Retinitis pigmentosa 59, Autosomal recessive
ARID1A	Coffin-Siris syndrome 2, Autosomal dominant
PIGV	Hyperphosphatasia with mental retardation syndrome 1, Autosomal recessive
NR0B2	Obesity, mild, early-onset, Autosomal recessive, Autosomal dominant, Multifactorial
FCN3	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive
AHDC1	Xia-Gibbs syndrome, Autosomal dominant
EPB41	Elliptocytosis-1
MECR	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, Autosomal recessive
YARS	Charcot-Marie-Tooth disease, dominant intermediate C, Autosomal dominant
HPCA	Dystonia 2, torsion, autosomal recessive, Autosomal recessive
AK2	Reticular dysgenesis, Autosomal recessive
GBD3	Gallbladder disease 3
GJB4	Erythrokeratodermia variabilis with erythema gyratum repens, Autosomal recessive, Autosomal dominant
GJB3	Deafness, autosomal dominant 2B, Autosomal dominant;Deafness, autosomal dominant, with peripheral neuropathy (3);Deafness, autosomal recessive (3);Deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant
COL8A2	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2
CSF3R	Neutropenia, severe congenital, 7, autosomal recessive, Autosomal recessive
SNIP1	Psychomotor retardation, epilepsy, and craniofacial dysmorphism, Autosomal recessive
RSPO1	Palmoplantar hyperkeratosis and true hermaphroditism, Autosomal recessive;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, Autosomal recessive
MFSD2A	Microcephaly 15, primary, autosomal recessive, Autosomal recessive
PPT1	Ceroid lipofuscinosis, neuronal, 1, Autosomal recessive
ZMPSTE24	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive
COL9A2	Epiphyseal dysplasia, multiple, 2, Autosomal dominant
KCNQ4	Deafness, autosomal dominant 2A, Autosomal dominant
CTPS1	Immunodeficiency 24, Autosomal recessive
CLDN19	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive
P3H1	Osteogenesis imperfecta, type VIII, Autosomal recessive
SLC2A1	Dystonia 9, Autosomal dominant;GLUT1 deficiency syndrome 1, infantile onset, severe, Autosomal recessive, Autosomal dominant;GLUT1 deficiency syndrome 2, childhood onset, Autosomal dominant;Stomatin-deficient cryohydrocytosis with neurologic defects, Autosomal dominant
MPL	Myelofibrosis with myeloid metaplasia, somatic;Thrombocythemia 2, Autosomal dominant, Somatic mutation;Thrombocytopenia, congenital amegakaryocytic, Autosomal recessive
SZT2	Epileptic encephalopathy, early infantile, 18, Autosomal recessive
PTOS1	Ptosis, hereditary congenital, 1, Autosomal dominant
ST3GAL3	Epileptic encephalopathy, early infantile, 15, Autosomal recessive;Mental retardation, autosomal recessive 12, Autosomal recessive
SLC6A9	Glycine encephalopathy with normal serum glycine, Autosomal recessive
PTCH2	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, somatic
EIF2B3	Leukoencephalopathy with vanishing white matter, Autosomal recessive
UROD	Porphyria cutanea tarda, Autosomal dominant;Porphyria, hepatoerythropoietic, Autosomal dominant
MUTYH	Adenomas, multiple colorectal, Autosomal recessive;Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, Somatic mutation;Gastric cancer, somatic
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive
RAD54L	Adenocarcinoma, colonic, somatic (3);Lymphoma, non-Hodgkin, somatic
TAL1	Leukemia, T-cell acute lymphocytic, somatic
STIL	Microcephaly 7, primary, autosomal recessive, Autosomal recessive
FOXE3	Anterior segment dysgenesis 2, multiple subtypes, Autosomal recessive;Cataract 34, multiple types
ELAVL4	Neuropathy, paraneoplastic sensory (1)
SCA37	Spinocerebellar ataxia 37, Autosomal dominant
ORC1	Meier-Gorlin syndrome 1, Autosomal recessive
SCP2	Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive
CPT2	CPT II deficiency, infantile, Autosomal recessive;CPT II deficiency, lethal neonatal, Autosomal recessive;CPT II deficiency, myopathic, stress-induced, Autosomal recessive, Autosomal dominant
DHCR24	Desmosterolosis, Autosomal recessive
BSND	Bartter syndrome, type 4a, Autosomal recessive;Sensorineural deafness with mild renal dysfunction, Autosomal recessive
PCSK9	Hypercholesterolemia, familial, 3
C8A	C8 deficiency, type I, Autosomal recessive
C8B	C8 deficiency, type II, Autosomal recessive
TACSTD2	Corneal dystrophy, gelatinous drop-like, Autosomal recessive
DOCK7	Epileptic encephalopathy, early infantile, 23, Autosomal recessive
ANGPTL3	Hypobetalipoproteinemia, familial, 2, Autosomal recessive
ALG6	Congenital disorder of glycosylation, type Ic, Autosomal recessive
PGM1	Congenital disorder of glycosylation, type It, Autosomal recessive
DNAJC6	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive
LEPR	Obesity, morbid, due to leptin receptor deficiency
SLC35D1	Schneckenbecken dysplasia, Autosomal recessive
RPE65	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive
SPG29	Spastic paraplegia 29, autosomal dominant, Autosomal dominant
CTH	Cystathioninuria, Autosomal recessive;Homocysteine, total plasma, elevated (3)
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive
NEXN	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant
BCL10	Lymphoma, MALT, somatic
ZNF644	Myopia 21, autosomal dominant, Autosomal dominant
HFM1	Premature ovarian failure 9, Autosomal recessive
DFNB32	Deafness, autosomal recessive 32, Autosomal recessive
GLMN	Glomuvenous malformations, Autosomal dominant
RPL5	Diamond-Blackfan anemia 6, Autosomal dominant
ABCA4	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive
RP32	Retinitis pigmentosa 32
WS2B	Waardenburg syndrome, type 2B, Autosomal dominant
DPYD	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive
AGL	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive
DBT	Maple syrup urine disease, type II, Autosomal recessive
CDC14A	Deafness, autosomal recessive 105, Autosomal recessive
MRT4	Mental retardation, autosomal recessive, 4, Autosomal recessive
COL11A1	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant
GPSM2	Chudley-McCullough syndrome, Autosomal recessive
GNAI3	Auriculocondylar syndrome 1, Autosomal dominant
GNAT2	Achromatopsia 4
AMPD2	Pontocerebellar hypoplasia, type 9, Autosomal recessive
ALX3	Frontonasal dysplasia 1, Autosomal recessive
SLC6A17	Mental retardation, autosomal recessive 48, Autosomal recessive
RBM15	Megakaryoblastic leukemia, acute
KCNA2	Epileptic encephalopathy, early infantile, 32, Autosomal dominant
DRAM2	Cone-rod dystrophy 21, Autosomal recessive
KCND3	Brugada syndrome 9, Autosomal dominant;Spinocerebellar ataxia 19, Autosomal dominant
SLC16A1	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant
LRIG2	Urofacial syndrome 2, Autosomal recessive
AP4B1	Spastic paraplegia 47, autosomal recessive, Autosomal recessive
AMPD1	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive
NRAS	Colorectal cancer, somatic;Epidermal nevus, somatic;Melanocytic nevus syndrome, congenital, somatic;Neurocutaneous melanosis, somatic;Noonan syndrome 6, Autosomal dominant;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;Thyroid carcinoma, follicular, somatic
TSHB	Hypothryoidism, congenital, nongoitrous 4, Autosomal recessive
NGF	Neuropathy, hereditary sensory and autonomic, type V, Autosomal recessive
VANGL1	Caudal regression syndrome, Autosomal dominant
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive
TBX15	Cousin syndrome, Autosomal recessive
HSD3B2	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, Autosomal recessive
PHGDH	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive
HMGCS2	HMG-CoA synthase-2 deficiency, Autosomal recessive
NOTCH2	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant
CORD8	Cone-rod dystrophy 8, Autosomal recessive
DFNA49	Deafness, autosomal dominant 49, Autosomal dominant
DFNA7	Deafness, autosomal dominant 7, Autosomal dominant
RBM8A	Thrombocytopenia-absent radius syndrome, Autosomal recessive
HFE2	Hemochromatosis, type 2A, Autosomal recessive
GJA5	Atrial fibrillation, familial, 11, Autosomal dominant;Atrial standstill, digenic (GJA5/SCN5A), Autosomal dominant
GJA8	Cataract 1, multiple types, Autosomal dominant
SF3B4	Acrofacial dysostosis 1, Nager type, Autosomal dominant
VPS45	Neutropenia, severe congenital, 5, autosomal recessive, Autosomal recessive
PRPF3	Retinitis pigmentosa 18, Autosomal dominant
ECM1	Urbach-Wiethe disease, Autosomal recessive
ADAMTSL4	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive
CTSK	Pycnodysostosis, Autosomal recessive
ZNF687	Paget disease of bone 6, Autosomal dominant
RFX5	Bare lymphocyte syndrome, type II, complementation group C, Autosomal recessive;Bare lymphocyte syndrome, type II, complementation group E, Autosomal recessive
POGZ	White-Sutton syndrome, Autosomal dominant
RORC	Immunodeficiency 42, Autosomal recessive
FLG	Ichthyosis vulgaris, Autosomal dominant
LOR	Vohwinkel syndrome with ichthyosis, Autosomal dominant
GATAD2B	Mental retardation, autosomal dominant 18, Autosomal dominant
TPM3	CAP myopathy 1, Autosomal recessive, Autosomal dominant;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant;Nemaline myopathy 1, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant
HAX1	Neutropenia, severe congenital 3, autosomal recessive, Autosomal recessive
CHRNB2	Epilepsy, nocturnal frontal lobe, 3
ADAR	Aicardi-Goutieres syndrome 6, Autosomal recessive;Dyschromatosis symmetrica hereditaria, Autosomal dominant
PMVK	Porokeratosis 1, multiple types, Autosomal dominant
FLAD1	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, Autosomal recessive
DPM3	Congenital disorder of glycosylation, type Io
MUC1	Medullary cystic kidney disease 1, Autosomal dominant
GBA	Gaucher disease, perinatal lethal, Autosomal recessive;Gaucher disease, type I, Autosomal recessive;Gaucher disease, type II, Autosomal recessive;Gaucher disease, type III, Autosomal recessive;Gaucher disease, type IIIC, Autosomal recessive
PKLR	Adenosine triphosphate, elevated, of erythrocytes, Autosomal dominant;Pyruvate kinase deficiency, Autosomal recessive
FDPS	Porokeratosis 9, multiple types
YY1AP1	Grange syndrome, Autosomal recessive
RIT1	Noonan syndrome 8, Autosomal dominant
LAMTOR2	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive
LMNA	Cardiomyopathy, dilated, 1A, Autosomal dominant;Charcot-Marie-Tooth disease, type 2B1, Autosomal recessive;Emery-Dreifuss muscular dystrophy 2, AD, Autosomal dominant;Emery-Dreifuss muscular dystrophy 3, AR, Autosomal recessive;Heart-hand syndrome, Slovenian type, Autosomal dominant;Hutchinson-Gilford progeria, Autosomal recessive, Autosomal dominant;Lipodystrophy, familial partial, type 2, Autosomal dominant;Malouf syndrome, Autosomal dominant;Mandibuloacral dysplasia, Autosomal recessive;Muscular dystrophy, congenital, Autosomal dominant;Muscular dystrophy, limb-girdle, type 1B, Autosomal dominant;Restrictive dermopathy, lethal, Autosomal recessive
SEMA4A	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant
NAXE	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, Autosomal recessive
PRCC	Renal cell carcinoma, papillary
NTRK1	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant
SPTA1	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive
PIGM	Glycosylphosphatidylinositol deficiency, Autosomal recessive
KCNJ10	Enlarged vestibular aqueduct, digenic, Autosomal recessive;SESAME syndrome, Autosomal recessive
ATP1A2	Alternating hemiplegia of childhood, Autosomal dominant;Migraine, familial basilar, Autosomal dominant;Migraine, familial hemiplegic, 2, Autosomal dominant
CASQ1	Myopathy, vacuolar, with CASQ1 aggregates, Autosomal dominant
PEX19	Peroxisome biogenesis disorder 12A (Zellweger), Autosomal recessive
NCSTN	Acne inversa, familial, 1, Autosomal dominant
VANGL2	Neural tube defects, Autosomal dominant
NECTIN4	Ectodermal dysplasia-syndactyly syndrome 1, Autosomal recessive
PPOX	Porphyria variegata, Autosomal dominant
NDUFS2	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
APOA2	Apolipoprotein A-II deficiency (3)
MPZ	Charcot-Marie-Tooth disease, dominant intermediate D, Autosomal dominant;Charcot-Marie-Tooth disease, type 1B, Autosomal dominant;Charcot-Marie-Tooth disease, type 2I, Autosomal dominant;Charcot-Marie-Tooth disease, type 2J, Autosomal dominant;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant;Neuropathy, congenital hypomyelinating, Autosomal recessive, Autosomal dominant;Roussy-Levy syndrome, Autosomal dominant
SDHC	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant
FCGR3A	Immunodeficiency 20, Autosomal recessive
FCGR2C	Thrombocytopenic purpura, autoimmune, Autosomal dominant
FCGR3B	Neutropenia, alloimmune neonatal (3)
ATF6	Achromatopsia 7, Autosomal recessive
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive
PBX1	Leukemia, acute pre-B-cell
TMCO1	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive
TBX19	Adrenocorticotropic hormone deficiency, Autosomal recessive
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome, Autosomal recessive
F5	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant
GORAB	Geroderma osteodysplasticum, Autosomal recessive
PRRX1	Agnathia-otocephaly complex, Autosomal recessive, Autosomal dominant
FMO3	Trimethylaminuria, Autosomal recessive
MYOC	Glaucoma 1A, primary open angle, Autosomal dominant
FASLG	Autoimmune lymphoproliferative syndrome, type IB, Autosomal dominant
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Autosomal recessive
SERPINC1	Thrombophilia due to antithrombin III deficiency, Autosomal recessive, Autosomal dominant
ABL2	Leukemia, acute myeloid, with eosinophilia (1)
NPHS2	Nephrotic syndrome, type 2, Autosomal recessive
LHX4	Pituitary hormone deficiency, combined, 4, Autosomal dominant
XPR1	Basal ganglia calcification, idiopathic, 6, Autosomal dominant
GLUL	Glutamine deficiency, congenital, Autosomal recessive
RNASEL	Prostate cancer 1, Autosomal dominant
LAMC2	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive
NCF2	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive
TSEN15	Pontocerebellar hypoplasia, type 2F, Autosomal recessive
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive
PLA2G4A	Phospholipase A2, group IV A, deficiency of (3)
CDC73	Hyperparathyroidism, familial primary, Autosomal dominant;Hyperparathyroidism-jaw tumor syndrome, Autosomal dominant;Parathyroid adenoma with cystic changes, Autosomal dominant;Parathyroid carcinoma
CFH	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant
CFHR5	Nephropathy due to CFHR5 deficiency, Autosomal dominant
F13B	Factor XIIIB deficiency, Autosomal recessive
ASPM	Microcephaly 5, primary, autosomal recessive, Autosomal recessive
CRB1	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive
PTPRC	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive
DDX59	Orofaciodigital syndrome V, Autosomal recessive
CACNA1S	Hypokalemic periodic paralysis, type 1, Autosomal dominant
PKP1	Ectodermal dysplasia/skin fragility syndrome
TNNT2	Cardiomyopathy, dilated, 1D, Autosomal dominant;Cardiomyopathy, familial restrictive, 3, Autosomal dominant;Cardiomyopathy, hypertrophic, 2, Autosomal dominant;Left ventricular noncompaction 6, Autosomal dominant
UBE2T	Fanconi anemia, complementation group T, Autosomal recessive
SYT2	Myasthenic syndrome, congenital, 7, presynaptic, Autosomal dominant
SNRPE	Hypotrichosis 11, Autosomal dominant
REN	Hyperuricemic nephropathy, familial juvenile 2, Autosomal dominant;Renal tubular dysgenesis, Autosomal recessive
PPP1R15B	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive
CR2	Immunodeficiency, common variable, 7, Autosomal recessive
CR1	CR1 deficiency (1)
LAMB3	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive
HSD11B1	Cortisone reductase deficiency 2, Autosomal dominant
IRF6	Popliteal pterygium syndrome 1, Autosomal dominant;van der Woude syndrome, Autosomal dominant
SYT14	Spinocerebellar ataxia, autosomal recessive 11, Autosomal recessive
KCNH1	Temple-Baraitser syndrome, Autosomal dominant;Zimmermann-Laband syndrome 1, Autosomal dominant
RD3	Leber congenital amaurosis 12, Autosomal recessive
FLVCR1	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive
PTPN14	Choanal atresia and lymphedema, Autosomal recessive
OTSC10	Otosclerosis 10, Autosomal dominant
RMD1	Rippling muscle disease-1, Autosomal dominant
CENPF	Stromme syndrome, Autosomal recessive
USH2A	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive
TGFB2	Loeys-Dietz syndrome 4, Autosomal dominant
SLC30A10	Hypermanganesemia with dystonia 1, Autosomal recessive
RAB3GAP2	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive
LBR	Greenberg skeletal dysplasia, Autosomal recessive;Pelger-Huet anomaly, Autosomal dominant
EPHX1	Diphenylhydantoin toxicity (1);Hypercholanemia, familial
PYCR2	Leukodystrophy, hypomyelinating, 10, Autosomal recessive
LEFTY2	Left-right axis malformations (3)
PSEN2	Alzheimer disease-4, Autosomal dominant;Cardiomyopathy, dilated, 1V, Autosomal dominant
COQ8A	Coenzyme Q10 deficiency, primary, 4, Autosomal recessive
GJC2	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive
ACTA1	Myopathy, actin, congenital, with cores, Autosomal recessive, Autosomal dominant;Myopathy, actin, congenital, with excess of thin myofilaments, Autosomal recessive, Autosomal dominant;Myopathy, congenital, with fiber-type disproportion 1, Autosomal recessive, Autosomal dominant;Nemaline myopathy 3, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant
AGT	Renal tubular dysgenesis, Autosomal recessive
ARV1	Epileptic encephalopathy, early infantile, 38, Autosomal recessive
GNPAT	Rhizomelic chondrodysplasia punctata, type 2, Autosomal recessive
SPRTN	Ruijs-Aalfs syndrome, Autosomal recessive
EGLN1	Erythrocytosis, familial, 3, Autosomal dominant
DISC2	Schizophrenia, Autosomal dominant
COA6	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, Autosomal recessive
TBCE	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive
B3GALNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, Autosomal recessive
LYST	Chediak-Higashi syndrome, Autosomal recessive
EDARADD	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, Autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, Autosomal recessive
DFNB45	Deafness, autosomal recessive 45, Autosomal recessive
ACTN2	Cardiomyopathy, dilated, 1AA, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 23, with or without LVNC, Autosomal dominant
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive
RYR2	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant
FMN2	Mental retardation, autosomal recessive 47, Autosomal recessive
GREM2	Tooth agenesis, selective, 9, Autosomal dominant
FH	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant
SDCCAG8	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7
AKT3	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Autosomal dominant
COX20	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
HNRNPU	Epileptic encephalopathy, early infantile, 54
NLRP3	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant
ETM2	Tremor, hereditary essential, 2, Autosomal dominant
TPO	Thyroid dyshormonogenesis 2A, Autosomal recessive
PXDN	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive
MYT1L	Mental retardation, autosomal dominant 39, Autosomal dominant
RNASEH1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, Autosomal recessive
RPS7	Diamond-Blackfan anemia 8, Autosomal dominant
COLEC11	3MC syndrome 2, Autosomal recessive
SOX11	Mental retardation, autosomal dominant, 27, Autosomal dominant
DFNB47	Deafness, neurosensory, autosomal recessive 47, Autosomal recessive
KIDINS220	Spastic paraplegia, intellectual disability, nystagmus, and obesity, Autosomal dominant
KLF11	Maturity-onset diabetes of the young, type VII
LPIN1	Myoglobinuria, acute recurrent, autosomal recessive, Autosomal recessive
NBAS	Infantile liver failure syndrome 2, Autosomal recessive;Short stature, optic nerve atrophy, and Pelger-Huet anomaly, Autosomal recessive
MYCN	Feingold syndrome 1, Autosomal dominant
WDR35	Cranioectodermal dysplasia 2, Autosomal recessive;Short-rib thoracic dysplasia 7 with or without polydactyly, Autosomal recessive
MATN3	Epiphyseal dysplasia, multiple, 5, Autosomal dominant;Spondyloepimetaphyseal dysplasia, Autosomal recessive
APOB	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive
GINGF3	Fibromatosis, gingival, 3
POMC	Obesity, adrenal insufficiency, and red hair due to POMC deficiency
DNMT3A	Tatton-Brown-Rahman syndrome, Autosomal dominant
ASXL2	Shashi-Pena syndrome, Autosomal dominant
HADHA	Fatty liver, acute, of pregnancy, Autosomal recessive;HELLP syndrome, maternal, of pregnancy, Autosomal recessive;LCHAD deficiency, Autosomal recessive;Trifunctional protein deficiency, Autosomal recessive
HADHB	Trifunctional protein deficiency, Autosomal recessive
DRC1	Ciliary dyskinesia, primary, 21, Autosomal recessive
OTOF	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive
KCNK3	Pulmonary hypertension, primary, 4, Autosomal dominant
AGBL5	Retinitis pigmentosa 75, Autosomal recessive
CAD	Epileptic encephalopathy, early infantile, 50, Autosomal recessive
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Autosomal recessive
EIF2B4	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive
IFT172	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive
C2orf71	Retinitis pigmentosa 54
XDH	Xanthinuria, type I, Autosomal recessive
SRD5A2	Pseudovaginal perineoscrotal hypospadias, Autosomal recessive
SPAST	Spastic paraplegia 4, autosomal dominant, Autosomal dominant
NLRC4	Autoinflammation with infantile enterocolitis, Autosomal dominant
CYP1B1	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive
SOS1	Noonan syndrome 4, Autosomal dominant
DFNA58	Deafness, autosomal dominant 58, Autosomal dominant
SCA25	Spinocerebellar ataxia 25, Autosomal dominant
DYNC2LI1	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive
ABCG5	Sitosterolemia, Autosomal recessive
ABCG8	Sitosterolemia, Autosomal recessive
LRPPRC	Leigh syndrome, French-Canadian type, Autosomal recessive
SLC3A1	Cystinuria, Autosomal recessive, Autosomal dominant
SIX3	Holoprosencephaly 2, Autosomal dominant, Isolated cases;Schizencephaly
EPAS1	Erythrocytosis, familial, 4
CRIPT	Short stature with microcephaly and distinctive facies, Autosomal recessive
MCFD2	Factor V and factor VIII, combined deficiency of
TTC7A	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive
CALM2	Long QT syndrome 15, Autosomal dominant
EPCAM	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive
MSH2	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant
CNC2	Carney complex, type II
GLC1H	Glaucoma 1, open angle, H
MSH6	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive
LHCGR	Leydig cell adenoma, somatic, with precocious puberty;Leydig cell hypoplasia with hypergonadotropic hypogonadism, Autosomal recessive;Leydig cell hypoplasia with pseudohermaphroditism, Autosomal recessive;Luteinizing hormone resistance, female, Autosomal recessive;Precocious puberty, male, Autosomal dominant
FSHR	Ovarian dysgenesis 1, Autosomal recessive;Ovarian hyperstimulation syndrome, Autosomal dominant;Ovarian response to FSH stimulation, Autosomal recessive
NRXN1	Pitt-Hopkins-like syndrome 2, Autosomal recessive
CCDC88A	PEHO syndrome, Autosomal recessive
PNPT1	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive
EFEMP1	Doyne honeycomb degeneration of retina, Autosomal dominant
FANCL	Fanconi anemia, complementation group L, Autosomal recessive
BCL11A	Dias-Logan syndrome, Autosomal dominant
PEX13	Peroxisome biogenesis disorder 11A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 11B, Autosomal recessive
FAM161A	Retinitis pigmentosa 28
SLC1A4	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, Autosomal recessive
OFC2	Orofacial cleft-2
PEE1	Preeclampsia/eclampsia 1, Autosomal dominant
ANTXR1	GAPO syndrome, Autosomal recessive
GFPT1	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive
NFU1	Multiple mitochondrial dysfunctions syndrome 1, Autosomal recessive
TIA1	Welander distal myopathy, Autosomal recessive, Autosomal dominant
FIGLA	Premature ovarian failure 6
ATP6V1B1	Renal tubular acidosis with deafness, Autosomal recessive
MCEE	Methylmalonyl-CoA epimerase deficiency, Autosomal recessive
DYSF	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive
CYP26B1	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
SPR	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, ?Autosomal dominant, Autosomal recessive
ALMS1	Alstrom syndrome, Autosomal recessive
STAMBP	Microcephaly-capillary malformation syndrome, Autosomal recessive
ACTG2	Visceral myopathy, Autosomal dominant
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Autosomal recessive;Portal hypertension, noncirrhotic, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Autosomal recessive
BOLA3	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, Autosomal recessive
DCTN1	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant
MOGS	Congenital disorder of glycosylation, type IIb, Autosomal recessive
HTRA2	3-methylglutaconic aciduria, type VIII, Autosomal recessive
DFNA43	Deafness, autosomal dominant 43, Autosomal dominant
SUCLG1	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive
GGCX	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive
SFTPB	Surfactant metabolism dysfunction, pulmonary, 1, Autosomal recessive
ST3GAL5	Salt and pepper developmental regression syndrome, Autosomal recessive
POLR1A	Acrofacial dysostosis, Cincinnati type, Autosomal dominant
REEP1	Spastic paraplegia 31, autosomal dominant, Autosomal dominant
CD8A	CD8 deficiency, familial, Autosomal recessive
EIF2AK3	Wolcott-Rallison syndrome, Autosomal recessive
IGKC	Kappa light chain deficiency, Autosomal recessive
GLC1B	Glaucoma 1B, primary open angle, adult onset
ADRA2B	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant
SNRNP200	Retinitis pigmentosa 33, Autosomal dominant
CNNM4	Jalili syndrome, Autosomal recessive
ZAP70	Autoimmune disease, multisystem, infantile-onset, 2, Autosomal recessive;Immunodeficiency 48, Autosomal recessive
CNGA3	Achromatopsia 2, Autosomal recessive
LIPT1	Lipoyltransferase 1 deficiency, Autosomal recessive
SLC5A7	Myasthenic syndrome, congenital, 20, presynaptic, Autosomal recessive;Neuronopathy, distal hereditary motor, type VIIA, Autosomal dominant
EDAR	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Autosomal recessive
NPHP1	Joubert syndrome 4, Autosomal recessive;Nephronophthisis 1, juvenile, Autosomal recessive;Senior-Loken syndrome-1, Autosomal recessive
BUB1	Colorectal cancer with chromosomal instability, somatic (3)
MERTK	Retinitis pigmentosa 38, Autosomal recessive
CMD1H	Cardiomyopathy, dilated, 1H
CKAP2L	Filippi syndrome, Autosomal recessive
IL36RN	Psoriasis 14, pustular, Autosomal recessive
IL1RN	Interleukin 1 receptor antagonist deficiency, Autosomal recessive
PAX8	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, Autosomal dominant
GLI2	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant
RNU4ATAC	Microcephalic osteodysplastic primordial dwarfism, type I, Autosomal recessive;Roifman syndrome, Autosomal recessive
DYT21	Dystonia 21, Autosomal dominant
BIN1	Myopathy, centronuclear, autosomal recessive, Autosomal recessive
ERCC3	Trichothiodystrophy 2, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group B, Autosomal recessive
PROC	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive
LIMS2	Muscular dystrophy, limb-girdle, type 2W, Autosomal recessive
CCDC115	Congenital disorder of glycosylation, type IIo, Autosomal recessive
CFC1	Heterotaxy, visceral, 2, autosomal, Autosomal dominant
RAB3GAP1	Warburg micro syndrome 1, Autosomal recessive
LCT	Lactase deficiency, congenital, Autosomal recessive
MCM6	Lactase persistence/nonpersistence, Autosomal dominant
DARS	Hypomyelination with brainstem and spinal cord involvement and leg spasticity, Autosomal recessive
CXCR4	Myelokathexis, isolated (3);WHIM syndrome, Autosomal dominant
HNMT	Mental retardation, autosomal recessive 51, Autosomal recessive
ZEB2	Mowat-Wilson syndrome, Autosomal dominant
DFNA16	Deafness, autosomal dominant 16, Autosomal dominant
DFNB27	Deafness, autosomal recessive 27, Autosomal recessive
ORC4	Meier-Gorlin syndrome 2, Autosomal recessive
MBD5	Mental retardation, autosomal dominant 1, Autosomal dominant
KIF5C	Cortical dysplasia, complex, with other brain malformations 2, Autosomal dominant
MMADHC	Homocystinuria, cblD type, variant 1, Autosomal recessive;Methylmalonic aciduria and homocystinuria, cblD type, Autosomal recessive;Methylmalonic aciduria, cblD type, variant 2, Autosomal recessive
NEB	Nemaline myopathy 2, autosomal recessive, Autosomal recessive
CACNB4	Episodic ataxia, type 5, Autosomal dominant
ACVR1	Fibrodysplasia ossificans progressiva, Autosomal dominant
ITGB6	Amelogenesis imperfecta, type IH, Autosomal recessive
IFIH1	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant
SCN2A	Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant
GALNT3	Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive
TTC21B	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive
SCN1A	Epilepsy, generalized, with febrile seizures plus, type 2, Autosomal dominant;Epileptic encephalopathy, early infantile, 6, Autosomal dominant;Febrile seizures, familial, 3A, Autosomal dominant;Migraine, familial hemiplegic, 3, Autosomal dominant
SCN9A	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant
SHFM5	Split-hand/foot malformation 5
ABCB11	Cholestasis, benign recurrent intrahepatic, 2, Autosomal recessive;Cholestasis, progressive familial intrahepatic 2, Autosomal recessive
LRP2	Donnai-Barrow syndrome, Autosomal recessive
BBS5	Bardet-Biedl syndrome 5, Autosomal recessive
KLHL41	Nemaline myopathy 9, Autosomal recessive
DCAF17	Woodhouse-Sakati syndrome, Autosomal recessive
SLC25A12	Epileptic encephalopathy, early infantile, 39, Autosomal recessive
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive
MAP3K20	Split-foot malformation with mesoaxial polydactyly, Autosomal recessive
CDCA7	Immunodeficiency-centromeric instability-facial anomalies syndrome 3
CHRNA1	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant
CHN1	Duane retraction syndrome 2
HOXD13	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant
HOXD10	Charcot-Marie-Tooth disease, foot deformity of, Autosomal dominant;Vertical talus, congenital, Autosomal dominant
AGPS	Rhizomelic chondrodysplasia punctata, type 3, Autosomal recessive
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant
PRKRA	Dystonia 16, Autosomal recessive
DFNB59	Deafness, autosomal recessive 59, Autosomal recessive
TTN	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant
CERKL	Retinitis pigmentosa 26
NEUROD1	Maturity-onset diabetes of the young 6
ARVD4	Arrhythmogenic right ventricular dysplasia 4, Autosomal dominant
COL3A1	Ehlers-Danlos syndrome, type IV, Autosomal dominant
COL5A2	Ehlers-Danlos syndrome, classic type, Autosomal dominant
SLC40A1	Hemochromatosis, type 4, Autosomal dominant
MSTN	Muscle hypertrophy
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive
STAT1	Immunodeficiency 31A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Autosomal recessive;Immunodeficiency 31C, autosomal dominant, Autosomal dominant
HECW2	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant
PGAP1	Mental retardation, autosomal recessive 42, Autosomal recessive
SF3B1	Myelodysplastic syndrome, somatic
HSPD1	Leukodystrophy, hypomyelinating, 4, Autosomal recessive;Spastic paraplegia 13, autosomal dominant, Autosomal dominant
MARS2	Spastic ataxia 3, autosomal recessive, Autosomal recessive
SATB2	Glass syndrome, Autosomal dominant
NDUFB3	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
CASP10	Autoimmune lymphoproliferative syndrome, type II, Autosomal dominant;Gastric cancer, somatic;Lymphoma, non-Hodgkin, somatic
CASP8	Hepatocellular carcinoma, somatic
TMEM237	Joubert syndrome 14, Autosomal recessive
ALS2	Amyotrophic lateral sclerosis 2, juvenile, Autosomal recessive;Primary lateral sclerosis, juvenile, Autosomal recessive;Spastic paralysis, infantile onset ascending, Autosomal recessive
SUMO1	Orofacial cleft 10
BMPR2	Pulmonary hypertension, familial primary, 1, with or without HHT, Autosomal dominant;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, Autosomal dominant;Pulmonary venoocclusive disease 1, Autosomal dominant
CTLA4	Autoimmune lymphoproliferative syndrome, type V, Autosomal dominant
ICOS	Immunodeficiency, common variable, 1, Autosomal recessive
NDUFS1	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
CREB1	Histiocytoma, angiomatoid fibrous, somatic
CRYGD	Cataract 4, multiple types, Autosomal dominant
CRYGC	Cataract 2, multiple types, Autosomal dominant
CRYGB	Cataract 39, multiple types, autosomal dominant, Autosomal dominant
TCL4	Leukemia/lymphoma, T-cell
PIKFYVE	Corneal fleck dystrophy, Autosomal dominant
UNC80	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive
CPS1	Carbamoylphosphate synthetase I deficiency, Autosomal recessive
ERBB4	Amyotrophic lateral sclerosis 19, Autosomal dominant
ABCA12	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive
ATIC	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive
FN1	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant
SMARCAL1	Schimke immunoosseous dysplasia, Autosomal recessive
PNKD	Paroxysmal nonkinesigenic dyskinesia, Autosomal dominant
VIL1	Cholestasis, progressive canalicular (1)
BCS1L	Bjornstad syndrome, Autosomal recessive;GRACILE syndrome;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial complex III deficiency, nuclear type 1, Autosomal recessive
CYP27A1	Cerebrotendinous xanthomatosis, Autosomal recessive
WNT10A	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant
IHH	Acrocapitofemoral dysplasia, Autosomal recessive;Brachydactyly, type A1, Autosomal dominant
NHEJ1	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
ABCB6	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant
TUBA4A	Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia, Autosomal dominant
DNAJB2	Spinal muscular atrophy, distal, autosomal recessive, 5, Autosomal recessive
DES	Cardiomyopathy, dilated, 1I;Myopathy, myofibrillar, 1, Autosomal recessive, Autosomal dominant;Scapuloperoneal syndrome, neurogenic, Kaeser type, Autosomal dominant
SPEG	Centronuclear myopathy 5, Autosomal recessive
GMPPA	Alacrima, achalasia, and mental retardation syndrome, Autosomal recessive
OBSL1	3-M syndrome 2
PAX3	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant
CUL3	Pseudohypoaldosteronism, type IIE, Autosomal dominant
COL4A4	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)
COL4A3	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive
SLC19A3	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), Autosomal recessive
MYP12	Myopia 12
SP110	Hepatic venoocclusive disease with immunodeficiency, Autosomal recessive
DIS3L2	Perlman syndrome, Autosomal recessive
ECEL1	Arthrogryposis, distal, type 5D, Autosomal recessive
PRSS56	Microphthalmia, isolated 6, Autosomal recessive
CHRND	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive
CHRNG	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive
KCNJ13	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant
SAG	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47
UGT1A1	Crigler-Najjar syndrome, type I, Autosomal recessive;Crigler-Najjar syndrome, type II, Autosomal recessive;Hyperbilirubinemia, familial transient neonatal, Autosomal recessive
COL6A3	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant
MLPH	Griscelli syndrome, type 3, Autosomal recessive
PER2	Advanced sleep phase syndrome, familial, 1, Autosomal dominant
TRAF3IP1	Senior-Loken syndrome 9, Autosomal recessive
TWIST2	Ablepharon-macrostomia syndrome, Autosomal dominant;Barber-Say syndrome, Autosomal dominant;Focal facial dermal dysplasia 3, Setleis type, Autosomal recessive
NDUFA10	Leigh syndrome, Autosomal recessive, Mitochondrial
KIF1A	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive
AGXT	Hyperoxaluria, primary, type 1, Autosomal recessive
D2HGDH	D-2-hydroxyglutaric aciduria, Autosomal recessive
MYMY1	Moyamoya disease, Autosomal recessive
TRNT1	Retinitis pigmentosa and erythrocytic microcytosis, Autosomal recessive;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, Autosomal recessive
CRBN	Mental retardation, autosomal recessive 2, Autosomal recessive
SUMF1	Multiple sulfatase deficiency, Autosomal recessive
ITPR1	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant
CAV3	Cardiomyopathy, familial hypertrophic, Autosomal dominant;Creatine phosphokinase, elevated serum, Autosomal dominant;Long QT syndrome 9;Muscular dystrophy, limb-girdle, type IC, Autosomal recessive, Autosomal dominant;Myopathy, distal, Tateyama type, Autosomal dominant;Rippling muscle disease, Autosomal dominant
SETD5	Mental retardation, autosomal dominant 23, Autosomal dominant
BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis, Autosomal dominant
OGG1	Renal cell carcinoma, clear cell, somatic
JAGN1	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive
IL17RC	Candidiasis, familial, 9, Autosomal recessive
CRELD1	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant
FANCD2	Fanconi anemia, complementation group D2, Autosomal recessive
VHL	Erythrocytosis, familial, 2, Autosomal recessive;Hemangioblastoma, cerebellar, somatic (3);Pheochromocytoma, Autosomal dominant;Renal cell carcinoma, somatic;von Hippel-Lindau syndrome, Autosomal dominant
SLC6A1	Myoclonic-atonic epilepsy, Autosomal dominant
PPARG	Carotid intimal medial thickness 1;Insulin resistance, severe, digenic, Autosomal dominant;Lipodystrophy, familial partial, type 3, Autosomal dominant;Obesity, severe, Autosomal recessive, Autosomal dominant, Multifactorial
TSEN2	Pontocerebellar hypoplasia type 2B, Autosomal recessive
RAF1	Cardiomyopathy, dilated, 1NN, Autosomal dominant;LEOPARD syndrome 2;Noonan syndrome 5
LGMD1H	Muscular dystrophy, limb-girdle, type 1H, Autosomal dominant
WNT7A	Fuhrmann syndrome, Autosomal recessive;Ulna and fibula, absence of, with severe limb deficiency, Autosomal recessive
TMEM43	Arrhythmogenic right ventricular dysplasia 5, Autosomal dominant;Emery-Dreifuss muscular dystrophy 7, AD, Autosomal dominant
XPC	Xeroderma pigmentosum, group C, Autosomal recessive
CCDC174	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive
COLQ	Myasthenic syndrome, congenital, 5, Autosomal recessive
BTD	Biotinidase deficiency, Autosomal recessive
TRICY1	Trichilemmal cyst 1, Autosomal dominant
SGO1	Chronic atrial and intestinal dysrhythmia, Autosomal recessive
THRB	Thyroid hormone resistance, Autosomal dominant;Thyroid hormone resistance, autosomal recessive, Autosomal recessive;Thyroid hormone resistance, selective pituitary, Autosomal dominant
RARB	Microphthalmia, syndromic 12, Autosomal recessive, Autosomal dominant
NGLY1	Congenital disorder of deglycosylation, Autosomal recessive
TGFBR2	Colorectal cancer, hereditary nonpolyposis, type 6;Esophageal cancer, somatic;Loeys-Dietz syndrome 2, Autosomal dominant
GPD1L	Brugada syndrome 2
GLB1	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive
CRTAP	Osteogenesis imperfecta, type VII, Autosomal recessive
MLH1	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant
PLCD1	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant
DLEC1	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive
MYD88	Macroglobulinemia, Waldenstrom, somatic;Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
ACVR2B	Heterotaxy, visceral, 4, autosomal
SCN5A	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1
SCN10A	Episodic pain syndrome, familial, 2, Autosomal dominant
SCN11A	Episodic pain syndrome, familial, 3, Autosomal dominant;Neuropathy, hereditary sensory and autonomic, type VII, Autosomal dominant
SLC25A38	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive
RPSA	Asplenia, isolated congenital, Autosomal dominant
CTNNB1	Colorectal cancer, somatic;Hepatocellular carcinoma, somatic;Medulloblastoma, somatic;Mental retardation, autosomal dominant 19, Autosomal dominant;Ovarian cancer, somatic;Pilomatricoma, somatic
KLHL40	Nemaline myopathy 8, autosomal recessive
POMGNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive
ANO10	Spinocerebellar ataxia, autosomal recessive 10, Autosomal recessive
ABHD5	Chanarin-Dorfman syndrome, Autosomal recessive
LARS2	Perrault syndrome 4, Autosomal recessive
SLC6A20	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive
LZTFL1	Bardet-Biedl syndrome 17, Autosomal recessive
FYCO1	Cataract 18, autosomal recessive, Autosomal recessive
TDGF1	Forebrain defects (3)
TMIE	Deafness, autosomal recessive 6, Autosomal recessive
MYL3	Cardiomyopathy, hypertrophic, 8
PTH1R	Chondrodysplasia, Blomstrand type, Autosomal recessive;Eiken syndrome, Autosomal recessive;Failure of tooth eruption, primary, Autosomal dominant;Metaphyseal chondrodysplasia, Murk Jansen type, Autosomal dominant
NBEAL2	Gray platelet syndrome, Autosomal recessive
SETD2	Luscan-Lumish syndrome, Autosomal dominant
TREX1	Aicardi-Goutieres syndrome 1, dominant and recessive, Autosomal recessive, Autosomal dominant;Chilblain lupus, Autosomal dominant;Vasculopathy, retinal, with cerebral leukodystrophy, Autosomal dominant
COL7A1	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant
SLC25A20	Carnitine-acylcarnitine translocase deficiency, Autosomal recessive
NDUFAF3	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
QARS	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, Autosomal recessive
LAMB2	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive
AMT	Glycine encephalopathy, Autosomal recessive
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive
TRAIP	Seckel syndrome 9, Autosomal recessive
GNAT1	Night blindness, congenital stationary, autosomal dominant 3, Autosomal dominant
GNAI2	Pituitary ACTH-secreting adenoma (3);Ventricular tachycardia, idiopathic, Autosomal dominant
RASSF1	Lung cancer, Autosomal recessive
ZMYND10	Ciliary dyskinesia, primary, 22, Autosomal recessive
NPRL2	Epilepsy, familial focal, with variable foci 2, Autosomal dominant
ACY1	Aminoacylase 1 deficiency, Autosomal recessive
POC1A	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, Autosomal recessive
GLYCTK	D-glyceric aciduria, Autosomal recessive
BAP1	Tumor predisposition syndrome, Autosomal dominant
TNNC1	Cardiomyopathy, dilated, 1Z;Cardiomyopathy, hypertrophic, 13
RFT1	Congenital disorder of glycosylation, type In, Autosomal recessive
PRKCD	Autoimmune lymphoproliferative syndrome, type III, Autosomal recessive
TKT	Short stature, developmental delay, and congenital heart defects, Autosomal recessive
CACNA1D	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive
WNT5A	Robinow syndrome, autosomal dominant 1, Autosomal dominant
IL17RD	Hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal dominant
HESX1	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant
FLNB	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive
DNASE1L3	Systemic lupus erythematosus 16, Autosomal recessive
PDHB	Pyruvate dehydrogenase E1-beta deficiency
ACOX2	Bile acid synthesis defect, congenital, 6, Autosomal recessive
ATXN7	Spinocerebellar ataxia 7, Autosomal dominant
SLC25A26	Combined oxidative phosphorylation deficiency 28, Autosomal recessive
EOGT	Adams-Oliver syndrome 4, Autosomal recessive
LMOD3	Nemaline myopathy 10, Autosomal recessive
MITF	COMMAD syndrome, Autosomal recessive;Tietz albinism-deafness syndrome, Autosomal dominant;Waardenburg syndrome, type 2A, Autosomal dominant;Waardenburg syndrome/ocular albinism, digenic, Autosomal dominant
FOXP1	Mental retardation with language impairment and with or without autistic features, Autosomal dominant
PROK2	Hypogonadotropic hypogonadism 4 with or without anosmia, Autosomal dominant
ROBO2	Vesicoureteral reflux 2
GBE1	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive
CHMP2B	Amyotrophic lateral sclerosis 17, Autosomal dominant;Dementia, familial, nonspecific, Autosomal dominant
POU1F1	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant
PROS1	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive
ARL13B	Joubert syndrome 8, Autosomal recessive
ARL6	Bardet-Biedl syndrome 3, Autosomal recessive
CPOX	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant
TFG	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant
IMPG2	Macular dystrophy, vitelliform, 5, Autosomal dominant;Retinitis pigmentosa 56, Autosomal recessive
TRMT10C	Combined oxidative phosphorylation deficiency 30, Autosomal recessive
CD96	C syndrome, Autosomal recessive
ZBTB20	Primrose syndrome, Autosomal dominant
ARHGAP31	Adams-Oliver syndrome 1, Autosomal dominant
POGLUT1	Dowling-Degos disease 4, Autosomal dominant
HGD	Alkaptonuria, Autosomal recessive
IQCB1	Senior-Loken syndrome 5, Autosomal recessive
ILDR1	Deafness, autosomal recessive 42, Autosomal recessive
CASR	Hypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, Autosomal recessive, Autosomal dominant;Hypocalcemia, autosomal dominant, Autosomal dominant;Hypocalcemia, autosomal dominant, with Bartter syndrome, Autosomal dominant;Hypocalciuric hypercalcemia, type I, Autosomal dominant
GLC1C	Glaucoma 1C, primary open angle, Autosomal dominant
MBS2	Facial paresis, hereditary congenital, 1, Autosomal dominant
CSTA	Peeling skin syndrome 4, Autosomal recessive
DIRC2	Renal cell carcinoma
ADCY5	Dyskinesia, familial, with facial myokymia, Autosomal dominant
MYLK	Aortic aneurysm, familial thoracic 7, Autosomal dominant
UMPS	Orotic aciduria, Autosomal recessive
ZNF148	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, Autosomal dominant
SEC61A1	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant
GATA2	Emberger syndrome, Autosomal dominant;Immunodeficiency 21, Autosomal dominant
RAB7A	Charcot-Marie-Tooth disease, type 2B, Autosomal dominant
ACAD9	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive
GP9	Bernard-Soulier syndrome, type C, Autosomal recessive
CNBP	Myotonic dystrophy 2, Autosomal dominant
IFT122	Cranioectodermal dysplasia 1, Autosomal recessive
DFNA18	Deafness, autosomal dominant 18, Autosomal dominant
DWS	Dandy-Walker syndrome, Isolated cases
OTSC5	Otosclerosis 5
RHO	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant
TRH	Thyrotropin-releasing hormone deficiency, Autosomal recessive
ATP2C1	Hailey-Hailey disease, Autosomal dominant
MRPL3	Combined oxidative phosphorylation deficiency 9, Autosomal recessive
UBA5	Epileptic encephalopathy, early infantile, 44, Autosomal recessive
NPHP3	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive
BFSP2	Cataract 12, multiple types, Autosomal dominant
TF	Atransferrinemia, Autosomal recessive
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive
KY	Myopathy, myofibrillar, 7, Autosomal recessive
PCCB	Propionicacidemia, Autosomal recessive
FOXL2	Blepharophimosis, epicanthus inversus, and ptosis, type 1, Autosomal dominant;Blepharophimosis, epicanthus inversus, and ptosis, type 2, Autosomal dominant;Premature ovarian failure 3
MRPS22	Combined oxidative phosphorylation deficiency 5, Autosomal recessive
ATR	Seckel syndrome 1, Autosomal recessive
PLOD2	Bruck syndrome 2, Autosomal recessive
ZIC1	Craniosynostosis 6, Autosomal dominant
AGTR1	Renal tubular dysgenesis, Autosomal recessive
GYG1	Polyglucosan body myopathy 2, Autosomal recessive
HPS3	Hermansky-Pudlak syndrome 3
CP	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive
CLRN1	Retinitis pigmentosa 61;Usher syndrome, type 3A, Autosomal recessive
P2RY12	Bleeding disorder, platelet-type, 8, Autosomal recessive
MME	Charcot-Marie-Tooth disease, axonal, type 2T, Autosomal recessive, Autosomal dominant
SLC33A1	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant
MLF1	Leukemia, acute myeloid, Autosomal dominant
GFM1	Combined oxidative phosphorylation deficiency 1, Autosomal recessive
IFT80	Short-rib thoracic dysplasia 2 with or without polydactyly, Autosomal recessive
MYP8	Myopia 8, Multifactorial
SI	Sucrase-isomaltase deficiency, congenital, Autosomal recessive
BCHE	Apnea, postanesthetic (3)
PDCD10	Cerebral cavernous malformations 3
SERPINI1	Encephalopathy, familial, with neuroserpin inclusion bodies, Autosomal dominant
MECOM	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant
TERC	Dyskeratosis congenita, autosomal dominant 1, Autosomal dominant
SLC7A14	Retinitis pigmentosa 68, Autosomal recessive
SLC2A2	Fanconi-Bickel syndrome, Autosomal recessive
TNIK	Mental retardation, autosomal recessive 54, Autosomal recessive
GHSR	Growth hormone deficiency, isolated partial, Autosomal recessive, Autosomal dominant
TBL1XR1	Mental retardation, autosomal dominant 41, Autosomal dominant;Pierpont syndrome, Autosomal dominant
PIK3CA	Breast cancer, somatic;CLOVE syndrome, somatic;Colorectal cancer, somatic;Cowden syndrome 5;Gastric cancer, somatic;Hepatocellular carcinoma, somatic;Keratosis, seborrheic, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Nevus, epidermal, somatic;Nonsmall cell lung cancer, somatic;Ovarian cancer, somatic
GNB4	Charcot-Marie-Tooth disease, dominant intermediate F, Autosomal dominant
CCDC39	Ciliary dyskinesia, primary, 14
DNAJC19	3-methylglutaconic aciduria, type V, Autosomal recessive
SOX2	Microphthalmia, syndromic 3, Autosomal dominant;Optic nerve hypoplasia and abnormalities of the central nervous system, Autosomal dominant
SPG14	Spastic paraplegia 14, autosomal recessive, Autosomal recessive
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency, Autosomal recessive
KLHL24	Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Autosomal dominant
EIF2B5	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive
DVL3	Robinow syndrome, autosomal dominant 3, Autosomal dominant
ALG3	Congenital disorder of glycosylation, type Id, Autosomal recessive
CLCN2	Leukoencephalopathy with ataxia, Autosomal recessive
THPO	Thrombocythemia 1, Autosomal dominant
LIPH	Hypotrichosis 7, Autosomal recessive;Woolly hair, autosomal recessive 2 with or without hypotrichosis, Autosomal recessive
CRYGS	Cataract 20, multiple types, Autosomal dominant
HRG	Thrombophilia due to HRG deficiency, Autosomal dominant;Thrombophilia due to elevated HRG, Autosomal dominant
ADIPOQ	Adiponectin deficiency
MASP1	3MC syndrome 1, Autosomal recessive
BCL6	Lymphoma, B-cell
LPP	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)
TP63	ADULT syndrome, Autosomal dominant;Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Autosomal dominant;Hay-Wells syndrome, Autosomal dominant;Limb-mammary syndrome, Autosomal dominant;Orofacial cleft 8, Autosomal dominant;Rapp-Hodgkin syndrome, Autosomal dominant;Split-hand/foot malformation 4, Autosomal dominant
P3H2	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive
CLDN1	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, Autosomal recessive
CLDN16	Hypomagnesemia 3, renal, Autosomal recessive
OPA1	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant
TFRC	Immunodeficiency 46, Autosomal recessive
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy, Autosomal recessive
RNF168	RIDDLE syndrome, Autosomal recessive
CEP19	Morbid obesity and spermatogenic failure, Autosomal recessive
RPL35A	Diamond-Blackfan anemia 5, Autosomal dominant
SPG38	Spastic paraplegia 38, autosomal dominant, Autosomal dominant
PIGG	Mental retardation, autosomal recessive 53, Autosomal recessive
PDE6B	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive
IDUA	Mucopolysaccharidosis Ih, Autosomal recessive;Mucopolysaccharidosis Ih/s, Autosomal recessive;Mucopolysaccharidosis Is, Autosomal recessive
RNF212	Recombination rate QTL 1
UVSSA	UV-sensitive syndrome 3, Autosomal recessive
FGFR3	Achondroplasia, Autosomal dominant;Bladder cancer, somatic;CATSHL syndrome, Autosomal recessive, Autosomal dominant;Cervical cancer, somatic;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans, Autosomal dominant;Hypochondroplasia, Autosomal dominant;LADD syndrome, Autosomal dominant;Muenke syndrome, Autosomal dominant;Nevus, epidermal, somatic;SADDAN, Autosomal dominant;Spermatocytic seminoma, somatic;Thanatophoric dysplasia, type I, Autosomal dominant;Thanatophoric dysplasia, type II, Autosomal dominant
SH3BP2	Cherubism, Autosomal dominant
HTT	Huntington disease, Autosomal dominant
DOK7	Myasthenic syndrome, congenital, 10, Autosomal recessive
LRPAP1	Myopia 23, autosomal recessive, Autosomal recessive
MSX1	Ectodermal dysplasia 3, Witkop type, Autosomal dominant;Orofacial cleft 5;Tooth agenesis, selective, 1, with or without orofacial cleft, Autosomal dominant
EVC2	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant
EVC	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant
WFS1	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant
HMX1	Oculoauricular syndrome, Autosomal recessive
SLC2A9	Hypouricemia, renal, 2, Autosomal recessive, Autosomal dominant
DRD5	Dystonia, primary cervical (3)
RAB28	Cone-rod dystrophy 18, Autosomal recessive
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia, Autosomal recessive
CC2D2A	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive
PROM1	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4
TAPT1	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, Autosomal recessive
QDPR	Hyperphenylalaninemia, BH4-deficient, C, Autosomal recessive
SEPSECS	Pontocerebellar hypoplasia type 2D, Autosomal recessive
SLC34A2	Pulmonary alveolar microlithiasis, Autosomal recessive
RBPJ	Adams-Oliver syndrome 3, Autosomal dominant
WDR19	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive
LIAS	Hyperglycinemia, lactic acidosis, and seizures, Autosomal recessive
UCHL1	Spastic paraplegia 79, autosomal recessive, Autosomal recessive
PHOX2B	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, Autosomal dominant;Neuroblastoma with Hirschsprung disease
GRXCR1	Deafness, autosomal recessive 25, Autosomal recessive
GABRB1	Epileptic encephalopathy, early infantile, 45, Autosomal dominant
CORIN	Preeclampsia/eclampsia 5
CNGA1	Retinitis pigmentosa 49
DFNA27	Deafness, autosomal dominant 27, Autosomal dominant
DFNB55	Deafness, autosomal recessive 55, Autosomal recessive
MYP9	Myopia 9, Multifactorial
TAPVR1	Total anomalous pulmonary venous return, Autosomal dominant
SGCB	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive
PDGFRA	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation
KIT	Gastrointestinal stromal tumor, familial, Autosomal dominant, Isolated cases;Germ cell tumors, Somatic mutation;Leukemia, acute myeloid, Autosomal dominant;Mast cell disease, Autosomal dominant;Piebaldism, Autosomal dominant
KDR	Hemangioma, capillary infantile, somatic
SRD5A3	Congenital disorder of glycosylation, type Iq, Autosomal recessive;Kahrizi syndrome, Autosomal recessive
TMEM165	Congenital disorder of glycosylation, type IIk, Autosomal recessive
SRP72	Bone marrow failure syndrome 1, Autosomal dominant
IGFBP7	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, Autosomal recessive
TECRL	Ventricular tachycardia, catecholaminergic polymorphic, 3, Autosomal recessive
GNRHR	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive
AMBN	Amelogenesis imperfecta, type IF, Autosomal recessive
ENAM	Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive
SLC4A4	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive
ALB	Analbuminemia
AFP	Alpha-fetoprotein deficiency, Autosomal recessive
C4orf26	Amelogenesis imperfecta, type IIA4, Autosomal recessive
SCARB2	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive
FRAS1	Fraser syndrome, Autosomal recessive
ANTXR2	Hyaline fibromatosis syndrome, Autosomal recessive
FGF5	Trichomegaly, Autosomal recessive
HNRNPDL	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant
COQ2	Coenzyme Q10 deficiency, primary, 1, Autosomal recessive
MYP11	Myopia 11
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant
DMP1	Hypophosphatemic rickets, AR, Autosomal recessive
PKD2	Polycystic kidney disease 2
PIGY	Hyperphosphatasia with mental retardation syndrome 6, Autosomal recessive
SNCA	Dementia, Lewy body, Autosomal dominant;Parkinson disease 1, Autosomal dominant;Parkinson disease 4, Autosomal dominant
GRID2	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive
SMARCAD1	Adermatoglyphia, Autosomal dominant;Basan syndrome, Autosomal dominant
BMPR1B	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant
TYS	Huriez syndrome, Autosomal dominant
RAP1GDS1	Lymphocytic leukemia, acute T-cell (3)
TRMT10A	Microcephaly, short stature, and impaired glucose metabolism 1, Autosomal recessive
MTTP	Abetalipoproteinemia, Autosomal recessive
OCA5	Albinism, oculocutaneous, type V, Autosomal recessive
SLC39A8	Congenital disorder of glycosylation, type IIn, Autosomal recessive
NFKB1	Immunodeficiency, common variable, 12, Autosomal dominant
MANBA	Mannosidosis, beta, Autosomal recessive
CISD2	Wolfram syndrome 2, Autosomal recessive
TACR3	Hypogonadotropic hypogonadism 11 with or without anosmia, Autosomal recessive
TET2	Myelodysplastic syndrome, somatic
PPA2	Sudden cardiac failure, infantile, Autosomal recessive
TBCK	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive
AIMP1	Leukodystrophy, hypomyelinating, 3, Autosomal recessive
CYP2U1	Spastic paraplegia 56, autosomal recessive, Autosomal recessive
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency, Autosomal recessive;Hyperinsulinemic hypoglycemia, familial, 4, Autosomal recessive
LEF1	Sebaceous tumors, somatic (3)
COL25A1	Fibrosis of extraocular muscles, congenital, 5, Autosomal recessive
CFI	Complement factor I deficiency, Autosomal recessive
LRIT3	Night blindness, congenital stationary (complete), 1F, autosomal recessive, Autosomal recessive
EGF	Hypomagnesemia 4, renal
PITX2	Anterior segment dysgenesis 4, Autosomal dominant;Axenfeld-Rieger syndrome, type 1, Autosomal dominant;Ring dermoid of cornea, Autosomal dominant
LARP7	Alazami syndrome, Autosomal recessive
ANK2	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant
PRSS12	Mental retardation, autosomal recessive 1, Autosomal recessive
SEC24D	Cole-Carpenter syndrome 2, Autosomal recessive
MYOZ2	Cardiomyopathy, hypertrophic, 16, Autosomal dominant
PRDM5	Brittle cornea syndrome 2, Autosomal recessive
BBS7	Bardet-Biedl syndrome 7, Autosomal recessive
IL2	Severe combined immunodeficiency due to IL2 deficiency (1)
BBS12	Bardet-Biedl syndrome 12, Autosomal recessive
SPATA5	Epilepsy, hearing loss, and mental retardation syndrome, Autosomal recessive
FAT4	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive
PLK4	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive
MFSD8	Ceroid lipofuscinosis, neuronal, 7, Autosomal recessive;Macular dystrophy with central cone involvement, Autosomal recessive
DFNB26	Deafness, autosomal recessive 26, Autosomal recessive
RAB33B	Smith-McCort dysplasia 2, Autosomal recessive
MMAA	Methylmalonic aciduria, vitamin B12-responsive, Autosomal recessive
EDNRA	Mandibulofacial dysostosis with alopecia, Autosomal dominant
NR3C2	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant
LRBA	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive
MAB21L2	Microphthalmia, syndromic 14, Autosomal recessive, Autosomal dominant
TRIM2	Charcot-Marie-Tooth disease, type 2R, Autosomal recessive
FGB	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypofibrinogenemia, congenital, Autosomal recessive
FGA	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital
RP29	Retinitis pigmentosa 29, Autosomal recessive
FGG	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive
LRAT	Leber congenital amaurosis 14, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive
GUCY1A3	Moyamoya 6 with achalasia, Autosomal recessive
GLRB	Hyperekplexia 2, autosomal recessive
ETFDH	Glutaric acidemia IIC, Autosomal recessive
MSMO1	Microcephaly, congenital cataract, and psoriasiform dermatitis, Autosomal recessive
TLL1	Atrial septal defect 6, Autosomal dominant
NEK1	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive
HPGD	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive
VEGFC	Lymphedema, hereditary, ID, Autosomal dominant
AGA	Aspartylglucosaminuria, Autosomal recessive
TENM3	Microphthalmia, isolated, with coloboma 9, Autosomal recessive
DFNA24	Deafness, autosomal dominant 24, Autosomal dominant
TRAPPC11	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive
PRIMPOL	Myopia 22, autosomal dominant, Autosomal dominant
SLC25A4	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, Autosomal dominant;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Autosomal dominant
CYP4V2	Bietti crystalline corneoretinal dystrophy, Autosomal recessive
KLKB1	Fletcher factor (prekallikrein) deficiency, Autosomal recessive
F11	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive
ASD1	Atrial septal defect 1, Autosomal dominant
MCDR3	Macular dystrophy, retinal, 3, Autosomal dominant
MYP16	Myopia 16
SDHA	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant
SLC9A3	Diarrhea 8, secretory sodium, congenital, Autosomal recessive
SLC6A19	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive
SLC6A3	Parkinsonism-dystonia, infantile, Autosomal recessive
NDUFS6	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
NSUN2	Mental retardation, autosomal recessive 5, Autosomal recessive
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, Autosomal recessive
ANIB4	Aneurysm, intracranial berry, 4
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, Autosomal recessive
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
TRIO	Mental retardation, autosomal dominant 44, Autosomal dominant
OTULIN	Autoinflammation, panniculitis, and dermatosis syndrome, Autosomal recessive
ANKH	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant
RETREG1	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive
SLC45A2	Albinism, oculocutaneous, type IV
AMACR	Alpha-methylacyl-CoA racemase deficiency, Autosomal recessive;Bile acid synthesis defect, congenital, 4, Autosomal recessive
DNAJC21	Bone marrow failure syndrome 3, Autosomal recessive
PRLR	Multiple fibroadenomas of the breast, Autosomal dominant
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive
SLC1A3	Episodic ataxia, type 6, Autosomal dominant
NIPBL	Cornelia de Lange syndrome 1, Autosomal dominant
C5orf42	Joubert syndrome 17, Autosomal recessive;Orofaciodigital syndrome VI, Autosomal recessive
GDNF	Central hypoventilation syndrome, Autosomal dominant
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive
OSMR	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant
C9	C9 deficiency
C7	C7 deficiency
C6	C6 deficiency;Combined C6/C7 deficiency (3)
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
GHR	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive
FGF10	Aplasia of lacrimal and salivary glands, Autosomal dominant;LADD syndrome, Autosomal dominant
HCN1	Epileptic encephalopathy, early infantile, 24, Autosomal dominant
MOCS2	Molybdenum cofactor deficiency B, Autosomal recessive
NDUFS4	Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
CCNO	Ciliary dyskinesia, primary, 29, Autosomal recessive
IL31RA	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant
MAP3K1	46XY sex reversal 6, Autosomal dominant
PDE4D	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant
ERCC8	Cockayne syndrome, type A, Autosomal recessive;UV-sensitive syndrome 2, Autosomal recessive
NDUFAF2	Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
ZSWIM6	Acromelic frontonasal dysostosis, Autosomal dominant
KIF2A	Cortical dysplasia, complex, with other brain malformations 3, Autosomal dominant
HTR1A	Periodic fever, menstrual cycle dependent, Autosomal dominant
GINGF2	Fibromatosis, gingival, 2
PIK3R1	Immunodeficiency 36, Autosomal dominant;SHORT syndrome, Autosomal dominant
MARVELD2	Deafness, autosomal recessive 49, Autosomal recessive
OCLN	Band-like calcification with simplified gyration and polymicrogyria, Autosomal recessive
SMN1	Spinal muscular atrophy-1, Autosomal recessive;Spinal muscular atrophy-2, Autosomal recessive;Spinal muscular atrophy-3, Autosomal recessive;Spinal muscular atrophy-4, Autosomal recessive
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive
HEXB	Sandhoff disease, infantile, juvenile, and adult forms, Autosomal recessive
COL4A3BP	Mental retardation, autosomal dominant 34, Autosomal dominant
PDE8B	Pigmented nodular adrenocortical disease, primary, 3;Striatal degeneration, autosomal dominant, Autosomal dominant
TELAB1	Telangiectasia, hereditary benign, Autosomal dominant
AP3B1	Hermansky-Pudlak syndrome 2, Autosomal recessive
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive
DMGDH	Dimethylglycine dehydrogenase deficiency, Autosomal recessive
DHFR	Megaloblastic anemia due to dihydrofolate reductase deficiency, Autosomal recessive
MSH3	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive
XRCC4	Short stature, microcephaly, and endocrine dysfunction, Autosomal recessive
VCAN	Wagner syndrome 1, Autosomal dominant
RASA1	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome
MEF2C	Chromosome 5q14.3 deletion syndrome, Autosomal dominant;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Autosomal dominant
ADGRV1	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant
NR2F1	Bosch-Boonstra-Schaaf optic atrophy syndrome, Autosomal dominant
TTC37	Trichohepatoenteric syndrome 1, Autosomal recessive
PCSK1	Obesity with impaired prohormone processing, Isolated cases
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive
GLC1M	Glaucoma 1, open angle, M, Autosomal dominant
SLC25A46	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive
WDR36	Glaucoma 1, open angle, G
APC	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic
MCC	Colorectal cancer, somatic
HSD17B4	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive
LOX	Aortic aneurysm, familial thoracic 10, Autosomal dominant
PRDM6	Patent ductus arteriosus 3, Autosomal dominant
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly, Autosomal recessive
ALDH7A1	Epilepsy, pyridoxine-dependent, Autosomal recessive
LMNB1	Leukodystrophy, adult-onset, autosomal dominant, Autosomal dominant
MEGF10	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive
FBN2	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive, Autosomal recessive
LYRM7	Mitochondrial complex III deficiency, nuclear type 8, Autosomal recessive
DFNA52	Deafness, autosomal dominant 52, Autosomal dominant
DFNA54	Deafness, autosomal dominant 54, Autosomal dominant
PDB4	Paget disease of bone 4, Autosomal dominant
ACSL6	Myelodysplastic syndrome (3);Myelogenous leukemia, acute (3)
P4HA2	Myopia 25, autosomal dominant, Autosomal dominant
SLC22A5	Carnitine deficiency, systemic primary, Autosomal recessive
IRF1	Gastric cancer, somatic;Myelodysplastic syndrome, preleukemic (3);Myelogenous leukemia, acute (3);Nonsmall cell lung cancer, somatic
RAD50	Nijmegen breakage syndrome-like disorder
UQCRQ	Mitochondrial complex III deficiency, nuclear type 4, Autosomal recessive
AFF4	CHOPS syndrome, Autosomal dominant
SAR1B	Chylomicron retention disease, Autosomal recessive
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, Autosomal dominant;Liebenberg syndrome, Autosomal dominant
TGFBI	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant
KLHL3	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant
MYOT	Muscular dystrophy, limb-girdle, type 1A, Autosomal dominant;Myopathy, myofibrillar, 3, Autosomal dominant;Myopathy, spheroid body, Autosomal dominant
HSPA9	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive
CTNNA1	Macular dystrophy, patterned, 2, Autosomal dominant
SIL1	Marinesco-Sjogren syndrome, Autosomal recessive
MATR3	Amyotrophic lateral sclerosis 21, Autosomal dominant
TMEM173	STING-associated vasculopathy, infantile-onset, Autosomal dominant
PURA	Mental retardation, autosomal dominant 31, Autosomal dominant
NDUFA2	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial
HARS	Charcot-Marie-Tooth disease, axonal, type 2W, Autosomal dominant;Usher syndrome type 3B, Autosomal recessive
DIAPH1	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive
SPRY4	Hypogonadotropic hypogonadism 17 with or without anosmia, Autosomal dominant
ARHGAP26	Leukemia, juvenile myelomonocytic, somatic
NR3C1	Glucocorticoid resistance, Autosomal dominant
POU4F3	Deafness, autosomal dominant 15, Autosomal dominant
PPP2R2B	Spinocerebellar ataxia 12, Autosomal dominant
SPINK1	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant
SPINK5	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive
FBXO38	Neuronopathy, distal hereditary motor, type IID, Autosomal dominant
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to (3)
SH3TC2	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant
PDE6A	Retinitis pigmentosa 43
SLC26A2	Achondrogenesis Ib, Autosomal recessive;Atelosteogenesis II, Autosomal recessive;De la Chapelle dysplasia, Autosomal recessive;Diastrophic dysplasia, Autosomal recessive;Diastrophic dysplasia, broad bone-platyspondylic variant, Autosomal recessive;Epiphyseal dysplasia, multiple, 4, Autosomal recessive
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids, Autosomal dominant
PDGFRB	Basal ganglia calcification, idiopathic, 4, Autosomal dominant;Kosaki overgrowth syndrome, Autosomal dominant;Myeloproliferative disorder with eosinophilia, Autosomal dominant;Myofibromatosis, infantile, 1, Autosomal dominant;Premature aging syndrome, Penttinen type, Autosomal dominant
TCOF1	Treacher Collins syndrome 1, Autosomal dominant
RPS14	Macrocytic anemia, refractory, due to 5q deletion, somatic
NDST1	Mental retardation, autosomal recessive 46, Autosomal recessive
GM2A	GM2-gangliosidosis, AB variant, Autosomal recessive
SLC36A2	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive
SPARC	Osteogenesis imperfecta, type XVII, Autosomal recessive
GLRA1	Hyperekplexia, hereditary 1, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant
SGCD	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive
ITK	Lymphoproliferative syndrome 1, Autosomal recessive
NIPAL4	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive
IL12B	Immunodeficiency 29, mycobacteriosis, Autosomal recessive
GABRA1	Epileptic encephalopathy, early infantile, 19, Autosomal dominant
GABRG2	Epilepsy, generalized, with febrile seizures plus, type 3, Autosomal dominant;Febrile seizures, familial, 8, Autosomal dominant
RARS	Leukodystrophy, hypomyelinating, 9, Autosomal recessive
AMCN	Arthrogryposis multiplex congenita, neurogenic, Autosomal recessive
DOCK2	Immunodeficiency 40, Autosomal recessive
FOXI1	Enlarged vestibular aqueduct, Autosomal recessive
NPM1	Leukemia, acute myeloid, somatic
SH3PXD2B	Frank-ter Haar syndrome, Autosomal recessive
NKX2-5	Atrial septal defect 7, with or without AV conduction defects, Autosomal dominant;Conotruncal heart malformations, variable;Hypoplastic left heart syndrome 2, Autosomal dominant;Hypothyroidism, congenital nongoitrous, 5, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 3, Autosomal dominant
MSX2	Craniosynostosis 2, Autosomal dominant;Parietal foramina 1, Autosomal dominant;Parietal foramina with cleidocranial dysplasia, Autosomal dominant
SNCB	Dementia, Lewy body, Autosomal dominant
NSD1	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant
SLC34A1	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant
F12	Angioedema, hereditary, type III, Autosomal dominant;Factor XII deficiency, Autosomal recessive
B4GALT7	Ehlers-Danlos syndrome with short stature and limb anomalies, Autosomal recessive
PROP1	Pituitary hormone deficiency, combined, 2, Autosomal recessive
NHP2	Dyskeratosis congenita, autosomal recessive 2, Autosomal recessive
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive
ADAMTS2	Ehlers-Danlos syndrome, type VIIC, Autosomal recessive
LTC4S	Leukotriene C4 synthase deficiency, Autosomal recessive
SQSTM1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Autosomal dominant;Myopathy, distal, with rimmed vacuoles, Autosomal dominant;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Autosomal recessive;Paget disease of bone 3, Autosomal dominant
FLT4	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant
TUBB2A	Cortical dysplasia, complex, with other brain malformations 5, Autosomal dominant
TUBB2B	Polymicrogyria, symmetric or asymmetric, Autosomal dominant
FARS2	Combined oxidative phosphorylation deficiency 14, Autosomal recessive
F13A1	Factor XIIIA deficiency, Autosomal recessive
OFC1	Orofacial cleft-1, Autosomal dominant
DSP	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive
TFAP2A	Branchiooculofacial syndrome, Autosomal dominant
GCNT2	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive
MAK	Retinitis pigmentosa 62, Autosomal recessive
GCM2	Hyperparathyroidism 4, Autosomal dominant;Hypoparathyroidism, familial isolated, Autosomal dominant
DFNA21	Deafness, autosomal dominant 21, Autosomal dominant
EDN1	Auriculocondylar syndrome 3, Autosomal recessive;Question mark ears, isolated, Autosomal dominant
TBC1D7	Macrocephaly/megalencephaly syndrome, autosomal recessive, Autosomal recessive
SCAR3	Spinocerebellar ataxia, autosomal recessive 3, Autosomal recessive
OTSC3	Otosclerosis 3, Autosomal dominant
DTNBP1	Hermansky-Pudlak syndrome 7, Autosomal recessive
ATXN1	Spinocerebellar ataxia 1, Autosomal dominant
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora), Autosomal recessive
DEK	Leukemia, acute nonlymphocytic
DCDC2	Nephronophthisis 19, Autosomal recessive
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency, Autosomal recessive
TDP2	Spinocerebellar ataxia, autosomal recessive 23, Autosomal recessive
GMNN	Meier-Gorlin syndrome 6
HFE	Hemochromatosis, Autosomal recessive
ZFP57	Diabetes mellitus, transient neonatal, 1
DFNA31	Deafness, autosomal dominant 31, Autosomal dominant
IGAD1	Immunoglobulin A deficiency, Autosomal recessive, Autosomal dominant, Isolated cases
TUBB	Cortical dysplasia, complex, with other brain malformations 6, Autosomal dominant;Symmetric circumferential skin creases, congenital, 1, Autosomal dominant
VARS2	Combined oxidative phosphorylation deficiency 20, Autosomal recessive
CDSN	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive
NEU1	Sialidosis, type I, Autosomal recessive;Sialidosis, type II, Autosomal recessive
C2	C2 deficiency, Autosomal recessive
SKIV2L	Trichohepatoenteric syndrome 2, Autosomal recessive
C4A	C4a deficiency, Autosomal recessive
C4B	C4B deficiency
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive
TNXB	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant
TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)
PSMB8	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive
TAP1	Bare lymphocyte syndrome, type I, Autosomal recessive
COL11A2	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant
TAPBP	Bare lymphocyte syndrome, type I, Autosomal recessive
SYNGAP1	Mental retardation, autosomal dominant 5, Autosomal dominant
LEMD2	Cataract 46, juvenile-onset, Autosomal recessive
RPS10	Diamond-Blackfan anemia 9, Autosomal dominant
FANCE	Fanconi anemia, complementation group E, Autosomal recessive
TULP1	Leber congenital amaurosis 15, Autosomal recessive;Retinitis pigmentosa 14, Autosomal recessive
LHFPL5	Deafness, autosomal recessive 67, Autosomal recessive
SLC26A8	Spermatogenic failure 3, Autosomal dominant
PNPLA1	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive
MOCS1	Molybdenum cofactor deficiency A, Autosomal recessive
TREM2	Nasu-Hakola disease, Autosomal recessive
GUCA1A	Cone dystrophy-3, Autosomal dominant;Cone-rod dystrophy 14, Autosomal dominant
GUCA1B	Retinitis pigmentosa 48
PRPH2	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant
GNMT	Glycine N-methyltransferase deficiency, Autosomal recessive
PEX6	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive
PPP2R5D	Mental retardation, autosomal dominant 35, Autosomal dominant
CUL7	3-M syndrome 1, Autosomal recessive
POLR1C	Leukodystrophy, hypomyelinating, 11, Autosomal recessive;Treacher Collins syndrome 3, Autosomal recessive
POLH	Xeroderma pigmentosum, variant type, Autosomal recessive
RSPH9	Ciliary dyskinesia, primary, 12
AARS2	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive
RUNX2	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant
NYS2	Nystagmus 2, congenital, autosomal dominant, Autosomal dominant
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
CD2AP	Glomerulosclerosis, focal segmental, 3
MUT	Methylmalonic aciduria, mut(0) type, Autosomal recessive
RHAG	Anemia, hemolytic, Rh-null, regulator type, Autosomal recessive;Overhydrated hereditary stomatocytosis, Autosomal dominant;Rh-mod syndrome (3)
TFAP2B	Char syndrome, Autosomal dominant;Patent ductus arteriosus 2, Autosomal dominant
PKHD1	Polycystic kidney and hepatic disease, Autosomal recessive
MRT24	Mental retardation, autosomal recessive 24, Autosomal recessive
ICK	Endocrine-cerebroosteodysplasia, Autosomal recessive
ELOVL5	Spinocerebellar ataxia 38, Autosomal dominant
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, Autosomal recessive
DST	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive
RAB23	Carpenter syndrome, Autosomal recessive
CMD1K	Cardiomyopathy, dilated, 1K
EYS	Retinitis pigmentosa 25
OTSC7	Otosclerosis 7, Autosomal dominant
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type, Autosomal recessive
COL9A1	Stickler syndrome, type IV
RIMS1	Cone-rod dystrophy 7
KHDC3L	Hydatidiform mole, recurrent, 2, Autosomal recessive
MTO1	Combined oxidative phosphorylation deficiency 10, Autosomal recessive
SLC17A5	Salla disease, Autosomal recessive;Sialic acid storage disorder, infantile, Autosomal recessive
COL12A1	Bethlem myopathy 2
PBCRA1	Chorioretinal atrophy, progressive bifocal, Autosomal dominant
MYO6	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive
IMPG1	Macular dystrophy, vitelliform, 4, Autosomal dominant
LCA5	Leber congenital amaurosis 5
ELOVL4	Ichthyosis, spastic quadriplegia, and mental retardation, Autosomal recessive;Stargardt disease 3, Autosomal dominant
BCKDHB	Maple syrup urine disease, type Ib, Autosomal recessive
PGM3	Immunodeficiency 23, Autosomal recessive
TBX18	Congenital anomalies of kidney and urinary tract 2, Autosomal dominant
NT5E	Calcification of joints and arteries, Autosomal recessive
SNX14	Spinocerebellar ataxia, autosomal recessive 20, Autosomal recessive
SLC35A1	Congenital disorder of glycosylation, type IIf, Autosomal recessive
RARS2	Pontocerebellar hypoplasia, type 6, Autosomal recessive
MAP3K7	Cardiospondylocarpofacial syndrome, Autosomal dominant;Frontometaphyseal dysplasia 2, Autosomal dominant
NDUFAF4	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
FBXL4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Autosomal recessive
SIM1	Obesity, severe, Autosomal recessive, Autosomal dominant, Multifactorial
GRIK2	Mental retardation, autosomal recessive, 6, Autosomal recessive
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures, Autosomal recessive
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive
PDSS2	Coenzyme Q10 deficiency, primary, 3, Autosomal recessive
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive
SEC63	Polycystic liver disease 2, Autosomal dominant
OSTM1	Osteopetrosis, autosomal recessive 5, Autosomal recessive
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive
FIG4	Amyotrophic lateral sclerosis 11, Autosomal dominant;Charcot-Marie-Tooth disease, type 4J, Autosomal recessive;Yunis-Varon syndrome, Autosomal recessive
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood, Autosomal recessive;Spondyloepiphyseal dysplasia tarda with progressive arthropathy, Autosomal recessive
LAMA4	Cardiomyopathy, dilated, 1JJ, Autosomal dominant
FEB5	Febrile seizures, familial, 5, Autosomal dominant
COL10A1	Metaphyseal chondrodysplasia, Schmid type, Autosomal dominant
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, Autosomal recessive
RSPH4A	Ciliary dyskinesia, primary, 11
RFX6	Mitchell-Riley syndrome, Autosomal recessive
PLN	Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18, Autosomal dominant
MCM9	Ovarian dysgenesis 4, Autosomal recessive
GJA1	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive
LAMA2	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive
RP63	Retinitis pigmentosa 63, Autosomal dominant
SPG25	Spastic paraplegia 25, autosomal recessive, Autosomal recessive
ARG1	Argininemia, Autosomal recessive
MED23	Mental retardation, autosomal recessive 18, Autosomal recessive
ENPP1	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2
EYA4	Cardiomyopathy, dilated, 1J;Deafness, autosomal dominant 10, Autosomal dominant
AHI1	Joubert syndrome-3, Autosomal recessive
PEX7	Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1, Autosomal recessive
IFNGR1	Immunodeficiency 27A, mycobacteriosis, AR, Autosomal recessive;Immunodeficiency 27B, mycobacteriosis, AD, Autosomal dominant
TNFAIP3	Autoinflammatory syndrome, familial, Behcet-like, Autosomal dominant
CITED2	Atrial septal defect 8, Autosomal dominant;Ventricular septal defect 2, Autosomal dominant
ADGRG6	Lethal congenital contracture syndrome 9, Autosomal recessive
HIVEP2	Mental retardation, autosomal dominant 43, Autosomal dominant
PEX3	Peroxisome biogenesis disorder 10A (Zellweger), Autosomal recessive
STX11	Hemophagocytic lymphohistiocytosis, familial, 4, Autosomal recessive
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora), Autosomal recessive
GRM1	Spinocerebellar ataxia, autosomal recessive 13, Autosomal recessive
TAB2	Congenital heart defects, nonsyndromic, 2, Autosomal dominant
IYD	Thyroid dyshormonogenesis 4, Autosomal recessive
RMND1	Combined oxidative phosphorylation deficiency 11, Autosomal recessive
ESR1	Estrogen resistance, Autosomal recessive
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive
ARID1B	Coffin-Siris syndrome 1, Autosomal dominant
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal recessive
GTF2H5	Trichothiodystrophy 3, photosensitive
RSPH3	Ciliary dyskinesia, primary, 32, Autosomal recessive
IGF2R	Hepatocellular carcinoma, somatic
DFNB38	Deafness, autosomal recessive 38, Autosomal recessive
MRT28	Mental retardation, autosomal recessive 28, Autosomal recessive
PLG	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive
PRKN	Adenocarcinoma of lung, somatic;Adenocarcinoma, ovarian, somatic;Parkinson disease, juvenile, type 2, Autosomal recessive
PDE10A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant
T	Sacral agenesis with vertebral anomalies, Autosomal recessive
MPC1	Mitochondrial pyruvate carrier deficiency, Autosomal recessive
RNASET2	Leukoencephalopathy, cystic, without megalencephaly, Autosomal recessive
FGFR1OP	Myeloproliferative disorder
SMOC2	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive
TBP	Spinocerebellar ataxia 17, Autosomal dominant
FAM20C	Raine syndrome, Autosomal recessive
DNAAF5	Ciliary dyskinesia, primary, 18, Autosomal recessive
MAD1L1	Lymphoma, somatic (3);Prostate cancer, somatic
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive
CARD11	B-cell expansion with NFKB and T-cell anergy, Autosomal dominant;Immunodeficiency 11, Autosomal recessive
AP5Z1	Spastic paraplegia 48, autosomal recessive, Autosomal recessive
ACTB	Baraitser-Winter syndrome 1, Autosomal dominant
RNF216	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive
CYMD	Macular dystrophy, dominant cystoid, Autosomal dominant
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, Autosomal recessive
TWIST1	Craniosynostosis 1, Autosomal dominant;Robinow-Sorauf syndrome, Autosomal dominant;Saethre-Chotzen syndrome, Autosomal dominant;Saethre-Chotzen syndrome with eyelid anomalies, Autosomal dominant
MYP17	Myopia 17, Autosomal dominant
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive
FAM126A	Leukodystrophy, hypomyelinating, 5, Autosomal recessive
KLHL7	Cold-induced sweating syndrome 3;Retinitis pigmentosa 42, Autosomal dominant
DFNA5	Deafness, autosomal dominant 5, Autosomal dominant
CYCS	Thrombocytopenia 4, Autosomal dominant
SNX10	Osteopetrosis, autosomal recessive 8, Autosomal recessive
HOXA1	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome
HOXA11	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, Autosomal dominant
HOXA13	Guttmacher syndrome, Autosomal dominant;Hand-foot-uterus syndrome, Autosomal dominant
FKBP14	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Autosomal recessive
GARS	Charcot-Marie-Tooth disease, type 2D, Autosomal dominant;Neuropathy, distal hereditary motor, type VA, Autosomal dominant
GHRHR	Growth hormone deficiency, isolated, type IB
NT5C3A	Anemia, hemolytic, due to UMPH1 deficiency, Autosomal recessive
BBS9	Bardet-Biedl syndrome 9, Autosomal recessive
BMPER	Diaphanospondylodysostosis, Autosomal recessive
TBX20	Atrial septal defect 4
ANLN	Focal segmental glomerulosclerosis 8, Autosomal dominant
NME8	Ciliary dyskinesia, primary, 6, Autosomal recessive
SFRP4	Pyle disease, Autosomal recessive
CDK13	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant
MPLKIP	Trichothiodystrophy 4, nonphotosensitive, Autosomal recessive
SUGCT	Glutaric aciduria III, Autosomal recessive
GLI3	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant
BLVRA	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant
PGAM2	Glycogen storage disease X, Autosomal recessive
GCK	Diabetes mellitus, noninsulin-dependent, late onset, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 3, Autosomal dominant;MODY, type II, Autosomal dominant
OGDH	Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive
CCM2	Cerebral cavernous malformations-2, Autosomal dominant
PKD1L1	Heterotaxy, visceral, 8, autosomal, Autosomal recessive
IKZF1	Immunodeficiency, common variable, 13, Autosomal dominant
DDC	Aromatic L-amino acid decarboxylase deficiency, Autosomal recessive
NYS3	Nystagmus 3, congenital, autosomal dominant, Autosomal dominant
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive
PSPH	Phosphoserine phosphatase deficiency, Autosomal recessive
CHCHD2	Parkinson disease 22, autosomal dominant
ANIB1	Aneurysm, intracranial berry, 1, Autosomal dominant
GUSB	Mucopolysaccharidosis VII, Autosomal recessive
ASL	Argininosuccinic aciduria, Autosomal recessive
KCTD7	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, Autosomal recessive
SBDS	Shwachman-Diamond syndrome, Autosomal recessive
AUTS2	Mental retardation, autosomal dominant 26, Autosomal dominant
ELN	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, Autosomal recessive
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase
MDH2	Epileptic encephalopathy, early infantile, 51, Autosomal recessive
HSPB1	Charcot-Marie-Tooth disease, axonal, type 2F, Autosomal dominant;Neuropathy, distal hereditary motor, type IIB, Autosomal dominant
PTPN12	Colon cancer, somatic
CD36	Platelet glycoprotein IV deficiency, Autosomal recessive
HGF	Deafness, autosomal recessive 39, Autosomal recessive
ABCB4	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant
KRIT1	Cavernous malformations of CNS and retina, Autosomal dominant;Cerebral cavernous malformations-1, Autosomal dominant;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Autosomal dominant
PEX1	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive
SAMD9	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive
SAMD9L	Ataxia-pancytopenia syndrome, Autosomal dominant
COL1A2	Ehlers-Danlos syndrome, cardiac valvular form, Autosomal recessive;Ehlers-Danlos syndrome, type VIIB, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant
SGCE	Dystonia-11, myoclonic, Autosomal dominant
SLC25A13	Citrullinemia, adult-onset type II, Autosomal recessive;Citrullinemia, type II, neonatal-onset, Autosomal recessive
ASNS	Asparagine synthetase deficiency, Autosomal recessive
SCA18	Spinocerebellar ataxia 18, Autosomal dominant
AP4M1	Spastic paraplegia 50, autosomal recessive, Autosomal recessive
TAF6	Alazami-Yuan syndrome, Autosomal recessive
STAG3	Premature ovarian failure 8, Autosomal recessive
TFR2	Hemochromatosis, type 3, Autosomal recessive
SERPINE1	Plasminogen activator inhibitor-1 deficiency, Autosomal recessive, Autosomal dominant
AP1S1	MEDNIK syndrome, Autosomal recessive
PLOD3	Lysyl hydroxylase 3 deficiency, Autosomal recessive
RELN	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive
CMD1Q	Cardiomyopathy, dilated, 1Q
COG5	Congenital disorder of glycosylation, type IIi
SLC26A4	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive
SLC26A3	Diarrhea 1, secretory chloride, congenital, Autosomal recessive
DFNB14	Deafness, autosomal recessive 14, Autosomal recessive
DFNB17	Deafness, autosomal recessive 17, Autosomal recessive
DLD	Dihydrolipoamide dehydrogenase deficiency, Autosomal recessive
LAMB1	Lissencephaly 5, Autosomal recessive
PPP1R3A	Insulin resistance, severe, digenic, Autosomal dominant
FOXP2	Speech-language disorder-1, Autosomal dominant
CAV1	Pulmonary hypertension, primary, 3, Autosomal dominant
MET	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic
CFTR	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)
TSPAN12	Exudative vitreoretinopathy 5, Autosomal dominant
AASS	Hyperlysinemia, Autosomal recessive;Saccharopinuria, Autosomal recessive
FEZF1	Hypogonadotropic hypogonadism 22, with or without anosmia, Autosomal recessive
SCA32	Spinocerebellar ataxia 32, Autosomal dominant
PAX4	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX
LEP	Obesity, morbid, due to leptin deficiency, Autosomal recessive
IMPDH1	Leber congenital amaurosis 11;Retinitis pigmentosa 10, Autosomal dominant
OPN1SW	Colorblindness, tritan, Autosomal dominant
FLNC	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant
TNPO3	Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant
SMO	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic
MIR96	Deafness, autosomal dominant 50, Autosomal dominant
CEP41	Joubert syndrome 15, Autosomal recessive
BPGM	Erythrocytosis due to bisphosphoglycerate mutase deficiency, Autosomal recessive
AKR1D1	Bile acid synthesis defect, congenital, 2, Autosomal recessive
DFNB13	Deafness, autosomal recessive 13, Autosomal recessive
OTSC2	Otosclerosis 2
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive
TBXAS1	Ghosal hematodiaphyseal syndrome, Autosomal recessive
BRAF	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant
AGK	Cataract 38, autosomal recessive, Autosomal recessive;Sengers syndrome, Autosomal recessive
PRSS1	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive
CLCN1	Myotonia congenita, dominant, Autosomal dominant;Myotonia congenita, recessive, Autosomal recessive;Myotonia levior, recessive (3)
GPDS1	Pigment dispersion syndrome, Autosomal dominant
NOBOX	Premature ovarian failure 5, Autosomal dominant
TPK1	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1
EZH2	Weaver syndrome, Autosomal dominant
KCNH2	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1
ASB10	Glaucoma 1, open angle, F
PRKAG2	Cardiomyopathy, hypertrophic 6, Autosomal dominant;Glycogen storage disease of heart, lethal congenital, Autosomal dominant;Wolff-Parkinson-White syndrome, ?Autosomal dominant
DPP6	Mental retardation, autosomal dominant 33
SHH	Holoprosencephaly 3, Autosomal dominant;Microphthalmia with coloboma 5, Autosomal dominant;Schizencephaly;Single median maxillary central incisor, Autosomal dominant
LMBR1	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant
MNX1	Currarino syndrome, Autosomal dominant
DNAJB6	Muscular dystrophy, limb-girdle, type 1E, Autosomal dominant
WDR60	Short-rib thoracic dysplasia 8 with or without polydactyly, Autosomal recessive
KWE	Keratolytic winter erythema, Autosomal dominant
MYP10	Myopia 10, Multifactorial
CLN8	Ceroid lipofuscinosis, neuronal, 8, Autosomal recessive;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, Autosomal recessive
MCPH1	Microcephaly 1, primary, autosomal recessive, Autosomal recessive
MFHAS1	Malignant fibrous histiocytoma
RP1L1	Occult macular dystrophy, Autosomal dominant
BLK	Maturity-onset diabetes of the young, type 11, Autosomal dominant
GATA4	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant
DFNB71	Deafness, autosomal recessive 71, Autosomal recessive
DLC1	Colorectal cancer, somatic
TUSC3	Mental retardation, autosomal recessive 7, Autosomal recessive
MSR1	Barrett esophagus/esophageal adenocarcinoma;Prostate cancer, hereditary, Autosomal dominant
VPS37A	Spastic paraplegia 53, autosomal recessive, Autosomal recessive
PDGFRL	Colorectal cancer, somatic;Hepatocellular cancer, somatic
ASAH1	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive
LPL	Combined hyperlipidemia, familial, Autosomal dominant;Lipoprotein lipase deficiency, Autosomal recessive
ATP6V1B2	Deafness, congenital, with onychodystrophy, autosomal dominant, Autosomal dominant;Zimmermann-Laband syndrome 2, Autosomal dominant
LZTS1	Esophageal squamous cell carcinoma, Autosomal dominant
FGF17	Hypogonadotropic hypogonadism 20 with or without anosmia, Autosomal dominant
HR	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant
SFTPC	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant
BMP1	Osteogenesis imperfecta, type XIII, Autosomal recessive
SLC39A14	Hypermanganesemia with dystonia 2, Autosomal recessive
TNFRSF10B	Squamous cell carcinoma, head and neck, Autosomal recessive
NKX2-6	Conotruncal heart malformations;Persistent truncus arteriosus
NEFL	Charcot-Marie-Tooth disease, type 1F, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, type 2E, Autosomal dominant
CHRNA2	Epilepsy, nocturnal frontal lobe, type 4, Autosomal dominant
GULOP	Scurvy (3)
SPG37	Spastic paraplegia 37, autosomal dominant, Autosomal dominant
ESCO2	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive
GTF2E2	Trichothiodystrophy 6, nonphotosensitive, Autosomal recessive
GSR	Hemolytic anemia due to glutathione reductase deficiency (1)
WRN	Werner syndrome, Autosomal recessive
TTI2	Mental retardation, autosomal recessive 39, Autosomal recessive
ERLIN2	Spastic paraplegia 18, autosomal recessive, Autosomal recessive
PLPBP	Epilepsy, early-onset, vitamin B6-dependent, Autosomal recessive
STAR	Lipoid adrenal hyperplasia, Autosomal recessive
DDHD2	Spastic paraplegia 54, autosomal recessive, Autosomal recessive
NSD3	Leukemia, acute myeloid, Autosomal dominant
FGFR1	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant
ADAM9	Cone-rod dystrophy 9
ANK1	Spherocytosis, type 1, Autosomal dominant
KAT6A	Mental retardation, autosomal dominant 32, Autosomal dominant
PLAT	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT
IKBKB	Immunodeficiency 15, Autosomal recessive
SLC20A2	Basal ganglia calcification, idiopathic, 1, Autosomal dominant
THAP1	Dystonia 6, torsion, Autosomal dominant
RNF170	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant
POMK	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, Autosomal recessive
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C), Autosomal recessive;Retinitis pigmentosa 73, Autosomal recessive
CCAL1	Chondrocalcinosis with early-onset osteoarthritis, Autosomal dominant
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive
MCM4	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive
SNAI2	Piebaldism, Autosomal dominant;Waardenburg syndrome, type 2D, Autosomal recessive
RB1CC1	Breast cancer, somatic
SOX17	Vesicoureteral reflux 3, Autosomal dominant
RP1	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant
PLAG1	Adenomas, salivary gland pleomorphic, somatic
IMPAD1	Chondrodysplasia with joint dislocations, GPAPP type, Autosomal recessive
CA8	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, Autosomal recessive
CHD7	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia
ASPH	Traboulsi syndrome, Autosomal recessive
TTPA	Ataxia with isolated vitamin E deficiency, Autosomal recessive
CYP7B1	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive
DURS1	Duane retraction syndrome 1, Autosomal dominant
FEB1	Febrile seizures, familial, 1, Autosomal dominant
CSPP1	Joubert syndrome 21, Autosomal recessive
CPA6	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive
EYA1	Anterior segment anomalies with or without cataract, Autosomal dominant;Branchiootic syndrome 1, Autosomal dominant;Branchiootorenal syndrome 1, with or without cataracts, Autosomal dominant
OPA6	Optic atrophy 6, Autosomal recessive
TRPA1	Episodic pain syndrome, familial, Autosomal dominant
TMEM70	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, Autosomal recessive
GDAP1	Charcot-Marie-Tooth disease, axonal, type 2K, Autosomal recessive, Autosomal dominant;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, Autosomal recessive;Charcot-Marie-Tooth disease, recessive intermediate, A, Autosomal recessive;Charcot-Marie-Tooth disease, type 4A, Autosomal recessive
PEX2	Peroxisome biogenesis disorder 5A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 5B, Autosomal recessive
IMPA1	Mental retardation, autosomal recessive 59, Autosomal recessive
CA2	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, Autosomal recessive
CNGB3	Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive
NBN	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome, Autosomal recessive
TMEM67	COACH syndrome, Autosomal recessive;Joubert syndrome 6, Autosomal recessive;Meckel syndrome 3, Autosomal recessive;Nephronophthisis 11, Autosomal recessive
PDP1	Pyruvate dehydrogenase phosphatase deficiency, Autosomal recessive
RAD54B	Colon cancer, somatic;Lymphoma, non-Hodgkin, somatic
NDUFAF6	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial
C8orf37	Cone-rod dystrophy 16, Autosomal recessive;Retinitis pigmentosa 64, Autosomal recessive
GDF6	Klippel-Feil syndrome 1, autosomal dominant, Autosomal dominant;Leber congenital amaurosis 17, Autosomal recessive;Microphthalmia with coloboma 6, digenic;Microphthalmia, isolated 4
UQCRB	Mitochondrial complex III deficiency, nuclear type 3, Autosomal recessive
PTDSS1	Lenz-Majewski hyperostotic dwarfism, Autosomal dominant
POP1	Anauxetic dysplasia 2, Autosomal recessive
VPS13B	Cohen syndrome, Autosomal recessive
SPAG1	Ciliary dyskinesia, primary, 28, Autosomal recessive
GRHL2	Deafness, autosomal dominant 28, Autosomal dominant;Ectodermal dysplasia/short stature syndrome, Autosomal recessive
RRM2B	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), Autosomal recessive;Mitochondrial DNA depletion syndrome 8B (MNGIE type), Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, Autosomal dominant
FZD6	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), Autosomal recessive
CTHRC1	Barrett esophagus/esophageal adenocarcinoma
DPYS	Dihydropyrimidinuria, Autosomal recessive
GLC1D	Glaucoma 1D, primary open angle
MYMY3	Moyamoya disease 3
ZFPM2	Diaphragmatic hernia 3;Tetralogy of Fallot, Autosomal dominant;46XY sex reversal 9, Autosomal dominant
TRHR	Thyrotropin-releasing hormone resistance, generalized (3)
TRPS1	Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant
ECA1	Epilepsy, childhood absence, 1, Autosomal dominant
FCMTE1	Epilepsy, myoclonic, familial adult, 1, Autosomal dominant
RAD21	Cornelia de Lange syndrome 4, Autosomal dominant
EXT1	Chondrosarcoma, Autosomal recessive;Exostoses, multiple, type 1, Autosomal dominant
TNFRSF11B	Paget disease of bone 5, juvenile-onset, Autosomal recessive
TAF2	Mental retardation, autosomal recessive 40, Autosomal recessive
RNF139	Renal cell carcinoma
WASHC5	Ritscher-Schinzel syndrome 1, Autosomal recessive;Spastic paraplegia 8, autosomal dominant, Autosomal dominant
NSMCE2	Seckel syndrome 10, Autosomal recessive
MYC	Burkitt lymphoma, Isolated cases
KCNQ3	Seizures, benign neonatal, type 2, Autosomal dominant
LRRC6	Ciliary dyskinesia, primary, 19, Autosomal recessive
TG	Thyroid dyshormonogenesis 3, Autosomal recessive
NDRG1	Charcot-Marie-Tooth disease, type 4D, Autosomal recessive
KCNK9	Birk-Barel mental retardation dysmorphism syndrome
TRAPPC9	Mental retardation, autosomal recessive 13, Autosomal recessive
SLURP1	Meleda disease, Autosomal recessive
CYP11B1	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Autosomal recessive;Aldosteronism, glucocorticoid-remediable, Autosomal dominant
CYP11B2	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive
GPIHBP1	Hyperlipoproteinemia, type 1D, Autosomal recessive
FAM83H	Amelogenesis imperfecta, type III, Autosomal dominant
PUF60	Verheij syndrome, Autosomal dominant
PLEC	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive
OPLAH	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant
CYC1	Mitochondrial complex III deficiency, nuclear type 6, Autosomal recessive
SLC52A2	Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive
SLC39A4	Acrodermatitis enteropathica, Autosomal recessive
RECQL4	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive
KANK1	Cerebral palsy, spastic quadriplegic, 2
SMARCA2	Nicolaides-Baraitser syndrome, Autosomal dominant
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Autosomal recessive
KCNV2	Retinal cone dystrophy 3B, Autosomal recessive
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive
SLC1A1	Dicarboxylic aminoaciduria, Autosomal recessive
JAK2	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation
GLDC	Glycine encephalopathy, Autosomal recessive
DFNB83	Deafness, autosomal recessive 83, Autosomal recessive
FRDA2	Friedreich ataxia 2, Autosomal recessive
TYRP1	Albinism, oculocutaneous, type III, Autosomal recessive
MPDZ	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive
DFNA47	Deafness, autosomal dominant 47, Autosomal dominant
FREM1	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant
IFNA1	Interferon, alpha, deficiency (1)
MTAP	Diaphyseal medullary stenosis with malignant fibrous histiocytoma, Autosomal dominant
CDKN2A	Melanoma and neural system tumor syndrome, Autosomal dominant;Orolaryngeal cancer, multiple (3);Pancreatic cancer/melanoma syndrome, Autosomal dominant
TEK	Glaucoma 3, primary congenital, E, Autosomal dominant;Venous malformations, multiple cutaneous and mucosal, Autosomal dominant
C9orf72	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Autosomal dominant
DDX58	Singleton-Merten syndrome 2, Autosomal dominant
TOPORS	Retinitis pigmentosa 31
APTX	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Autosomal recessive
B4GALT1	Congenital disorder of glycosylation, type IId, Autosomal recessive
DNAI1	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive
GALT	Galactosemia, Autosomal recessive
IL11RA	Craniosynostosis and dental anomalies, Autosomal recessive
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;Charcot-Marie-Tooth disease, type 2Y, Autosomal dominant;Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, Autosomal dominant
FANCG	Fanconi anemia, complementation group G
PIGO	Hyperphosphatasia with mental retardation syndrome 2, Autosomal recessive
RMRP	Anauxetic dysplasia, Autosomal recessive;Cartilage-hair hypoplasia, Autosomal recessive;Metaphyseal dysplasia without hypotrichosis, Autosomal recessive
TPM2	Arthrogryposis multiplex congenita, distal, type 1, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;CAP myopathy 2, Autosomal dominant;Nemaline myopathy 4, autosomal dominant, Autosomal dominant
GBA2	Spastic paraplegia 46, autosomal recessive, Autosomal recessive
NPR2	Acromesomelic dysplasia, Maroteaux type, Autosomal recessive;Epiphyseal chondrodysplasia, Miura type, Autosomal dominant;Short stature with nonspecific skeletal abnormalities, Autosomal dominant
GNE	Nonaka myopathy, Autosomal recessive;Sialuria, Autosomal dominant
GRHPR	Hyperoxaluria, primary, type II, Autosomal recessive
EXOSC3	Pontocerebellar hypoplasia, type 1B, Autosomal recessive
OTSC8	Otosclerosis 8, Autosomal dominant
CPAT1	Cerebral palsy, ataxic, autosomal recessive, Autosomal recessive
SPG19	Spastic paraplegia 19, autosomal dominant, Autosomal dominant
CMD1B	Cardiomyopathy, dilated 1B, Autosomal dominant
CTPL1	Cataract 26, multiple types
GSM1	Geniospasm, Autosomal dominant
FXN	Friedreich ataxia, Autosomal recessive;Friedreich ataxia with retained reflexes, Autosomal recessive
TJP2	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial
TMC1	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive
TRPM6	Hypomagnesemia 1, intestinal, Autosomal recessive
VPS13A	Choreoacanthocytosis, Autosomal recessive
GNAQ	Capillary malformations, congenital, 1, somatic, mosaic;Sturge-Weber syndrome, somatic, mosaic
CEP78	Cone-rod dystrophy and hearing loss, Autosomal recessive
PSAT1	Neu-Laxova syndrome 2, Autosomal recessive
HPLH1	Hemophagocytic lymphohistiocytosis, familial, 1, Autosomal recessive
HNRNPK	Au-Kline syndrome, Autosomal dominant
GLC1J	Glaucoma, primary open angle, juvenile-onset, 2
SECISBP2	Thyroid hormone metabolism, abnormal
AUH	3-methylglutaconic aciduria, type I, Autosomal recessive
ROR2	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive
SPTLC1	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant
IARS	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Autosomal recessive
BICD2	Spinal muscular atrophy, lower extremity-predominant, 2, AD, Autosomal dominant
FBP1	Fructose-1,6-bisphosphatase deficiency, Autosomal recessive
FANCC	Fanconi anemia, complementation group C, Autosomal recessive
PTCH1	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant
ERCC6L2	Bone marrow failure syndrome 2, Autosomal recessive
HSD17B3	Pseudohermaphroditism, male, with gynecomastia, Autosomal recessive
TDRD7	Cataract 36
XPA	Xeroderma pigmentosum, group A, Autosomal recessive
FOXE1	Bamforth-Lazarus syndrome, Autosomal recessive
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, Autosomal recessive
ANKS6	Nephronophthisis 16, Autosomal recessive
TGFBR1	Loeys-Dietz syndrome 1, Autosomal dominant
ALG2	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive
NR4A3	Chondrosarcoma, extraskeletal myxoid
INVS	Nephronophthisis 2, infantile, Autosomal recessive
BAAT	Hypercholanemia, familial
ALDOB	Fructose intolerance, Autosomal recessive
ABCA1	HDL deficiency, type 2;Tangier disease, Autosomal recessive
FKTN	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive
TAL2	Leukemia, T-cell acute lymphocytic, somatic
TMEM38B	Osteogenesis imperfecta, type XIV
IKBKAP	Dysautonomia, familial, Autosomal recessive
FRRS1L	Epileptic encephalopathy, early infantile, 37, Autosomal recessive
MUSK	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive
PRPF4	Retinitis pigmentosa 70, Autosomal dominant
ALAD	Porphyria, acute hepatic, Autosomal recessive
WHRN	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive
TNC	Deafness, autosomal dominant 56, Autosomal dominant
DEC1	Esophageal squamous cell carcinoma, Autosomal dominant
TRIM32	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive
CDK5RAP2	Microcephaly 3, primary, autosomal recessive, Autosomal recessive
C5	C5 deficiency
GSN	Amyloidosis, Finnish type, Autosomal dominant
CRB2	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive
NR5A1	Adrenocortical insufficiency (3);Premature ovarian failure 7, Autosomal dominant;Spermatogenic failure 8, Autosomal recessive;46XY sex reversal 3, Autosomal dominant
LMX1B	Nail-patella syndrome, Autosomal dominant
LRSAM1	Charcot-Marie-Toothe disease, axonal, type 2P, Autosomal recessive, Autosomal dominant
STXBP1	Epileptic encephalopathy, early infantile, 4, Autosomal dominant
ENG	Telangiectasia, hereditary hemorrhagic, type 1, Autosomal dominant
AK1	Hemolytic anemia due to adenylate kinase deficiency, Autosomal recessive
DPM2	Congenital disorder of glycosylation, type Iu, Autosomal recessive
DNM1	Epileptic encephalopathy, early infantile, 31, Autosomal dominant
COQ4	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive
SLC27A4	Ichthyosis prematurity syndrome
GLE1	Arthrogryposis, lethal, with anterior horn cell disease;Lethal congenital contracture syndrome 1, Autosomal recessive
SPTAN1	Epileptic encephalopathy, early infantile, 5, Autosomal dominant
WDR34	Short-rib thoracic dysplasia 11 with or without polydactyly, Autosomal recessive
DOLK	Congenital disorder of glycosylation, type Im, Autosomal recessive
TOR1A	Dystonia-1, torsion, Autosomal dominant
ASS1	Citrullinemia, Autosomal recessive
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII, Autosomal recessive
ABL1	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
LAMC3	Cortical malformations, occipital, Autosomal recessive
NUP214	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive
SETX	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive
TSC1	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant
GFI1B	Bleeding disorder, platelet-type, 17, Autosomal dominant
CEL	Maturity-onset diabetes of the young, type VIII, Autosomal dominant
SURF1	Charcot-Marie-Tooth disease, type 4K, Autosomal recessive;Leigh syndrome, due to COX IV deficiency, Autosomal recessive, Mitochondrial
ADAMTS13	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive
ADAMTSL2	Geleophysic dysplasia 1, Autosomal recessive
DBH	Dopamine beta-hydroxylase deficiency, Autosomal recessive
COL5A1	Ehlers-Danlos syndrome, classic type, Autosomal dominant
KCNT1	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant
LHX3	Pituitary hormone deficiency, combined, 3, Autosomal recessive
CARD9	Candidiasis, familial, 2, autosomal recessive, Autosomal recessive
PMPCA	Spinocerebellar ataxia, autosomal recessive 2, Autosomal recessive
INPP5E	Joubert syndrome 1, Autosomal recessive;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, Autosomal recessive
NOTCH1	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant
AGPAT2	Lipodystrophy, congenital generalized, type 1, Autosomal recessive
MAN1B1	Mental retardation, autosomal recessive 15, Autosomal recessive
GRIN1	Mental retardation, autosomal dominant 8
TPRN	Deafness, autosomal recessive 79, Autosomal recessive
SLC34A3	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive
NSMF	Hypogonadotropic hypogonadism 9 with or without anosmia
EHMT1	Kleefstra syndrome, Autosomal dominant
TUBB8	Oocyte maturation defect 2, Autosomal recessive, Autosomal dominant
ZMYND11	Mental retardation, autosomal dominant 30, Autosomal dominant
KLF6	Gastric cancer, somatic;Prostate cancer, somatic
AKR1C2	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive
IL2RA	Immunodeficiency 41 with lymphoproliferation and autoimmunity, Autosomal recessive
GATA3	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive
OPTN	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant
PHYH	Refsum disease, Autosomal recessive
DCLRE1C	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive
ITGA8	Renal hypodysplasia/aplasia 1, Autosomal recessive
CUBN	Megaloblastic anemia-1, Finnish type, Autosomal recessive
CACNB2	Brugada syndrome 4
MLLT10	Leukemia, acute myeloid, Autosomal dominant
PTF1A	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive
MYO3A	Deafness, autosomal recessive 30, Autosomal recessive
PDSS1	Coenzyme Q10 deficiency, primary, 2, Autosomal recessive
ANKRD26	Thrombocytopenia 2, Autosomal dominant
RAB18	Warburg micro syndrome 3, Autosomal recessive
ARMC4	Ciliary dyskinesia, primary, 23, Autosomal recessive
WAC	Desanto-Shinawi syndrome, Autosomal dominant
DFNB33	Deafness, autosomal recessive 33, Autosomal recessive
MAP3K8	Lung cancer, somatic
ZEB1	Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3
USH1K	Usher syndrome, type IK, Autosomal recessive
RET	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant
GDF2	Telangiectasia, hereditary hemorrhagic, type 5, Autosomal dominant
ERCC6	Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, Autosomal recessive
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive
PRKG1	Aortic aneurysm, familial thoracic 8, Autosomal dominant
MYP15	Myopia 15, Autosomal dominant
PCDH15	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive
MBS3	Facial paresis, hereditary congenital, 2, Autosomal dominant
EGR2	Charcot-Marie-Tooth disease, type 1D, Autosomal dominant;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant;Neuropathy, congenital hypomyelinating, 1, Autosomal recessive, Autosomal dominant
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13, Autosomal dominant
DNAJC12	Hyperphenylalaninemia, mild, non-BH4-deficient
MYPN	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive
ATOH7	Persistent hyperplastic primary vitreous, autosomal recessive, Autosomal recessive
DNA2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, Autosomal dominant
SPG27	Spastic paraplegia 27, autosomal recessive, Autosomal recessive
STOX1	Preeclampsia/eclampsia 4
KIF1BP	Goldberg-Shprintzen megacolon syndrome, Autosomal recessive
HK1	Hemolytic anemia due to hexokinase deficiency, Autosomal recessive;Neuropathy, hereditary motor and sensory, Russe type, Autosomal recessive
NEUROG3	Diarrhea 4, malabsorptive, congenital, Autosomal recessive
COL13A1	Myasthenic syndrome, congenital, 19, Autosomal recessive
NODAL	Heterotaxy, visceral, 5, Autosomal dominant
PRF1	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin
PCBD1	Hyperphenylalaninemia, BH4-deficient, D, Autosomal recessive
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, Autosomal recessive
CDH23	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive
PSAP	Combined SAP deficiency, Autosomal recessive;Gaucher disease, atypical;Krabbe disease, atypical, Autosomal recessive;Metachromatic leukodystrophy due to SAP-b deficiency, Autosomal recessive
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations, Autosomal recessive
ASCC1	Barrett esophagus/esophageal adenocarcinoma
MICU1	Myopathy with extrapyramidal signs, Autosomal recessive
MRPS16	Combined oxidative phosphorylation deficiency 2, Autosomal recessive
PLAU	Quebec platelet disorder, Autosomal dominant
VCL	Cardiomyopathy, dilated, 1W;Cardiomyopathy, hypertrophic, 15
ADK	Hypermethioninemia due to adenosine kinase deficiency, Autosomal recessive
KAT6B	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome
C10orf11	Albinism, oculocutaneous, type VII, Autosomal recessive
KCNMA1	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant
POLR3A	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive
RPS24	Diamond-blackfan anemia 3, Autosomal dominant
SFTPA2	Pulmonary fibrosis, idiopathic, Autosomal dominant
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, Autosomal recessive, Autosomal dominant;Methionine adenosyltransferase deficiency, autosomal recessive, Autosomal recessive, Autosomal dominant
CDHR1	Cone-rod dystrophy 15, Autosomal recessive;Retinitis pigmentosa 65, Autosomal recessive
RGR	Retinitis pigmentosa 44
LDB3	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant
BMPR1A	Juvenile polyposis syndrome, infantile form, Autosomal dominant;Polyposis syndrome, hereditary mixed, 2;Polyposis, juvenile intestinal, Autosomal dominant
GLUD1	Hyperinsulinism-hyperammonemia syndrome, Autosomal dominant
MINPP1	Thyroid carcinoma, follicular, Autosomal dominant
PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, Autosomal recessive
KLLN	Cowden syndrome 4
PTEN	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive
LIPN	Ichthyosis, congenital, autosomal recessive 8, Autosomal recessive
ACTA2	Aortic aneurysm, familial thoracic 6, Autosomal dominant;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome, Autosomal dominant
FAS	Autoimmune lymphoproliferative syndrome, type IA, Autosomal dominant;Squamous cell carcinoma, burn scar-related, somatic (3)
LIPA	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive
SLC16A12	Cataract 47, juvenile, with microcornea, Autosomal dominant
KIF11	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant
CYP26C1	Focal facial dermal dysplasia 4, Autosomal recessive
RBP4	Microphthalmia, isolated, with coloboma 10, Autosomal dominant;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, Autosomal recessive
PDE6C	Cone dystrophy 4, Autosomal recessive
LGI1	Epilepsy, familial temporal lobe, 1, Autosomal dominant
PLCE1	Nephrotic syndrome, type 3, Autosomal recessive
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive
CYP2C19	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive
CYP2C9	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant
CYP2C8	Rhabdomyolysis, cerivastatin-induced (3)
ALDH18A1	Cutis laxa, autosomal dominant 3, Autosomal dominant;Cutis laxa, autosomal recessive, type IIIA, Autosomal recessive, Isolated cases;Spastic paraplegia 9A, autosomal dominant, Autosomal dominant;Spastic paraplegia 9B, autosomal recessive, Autosomal recessive
TCTN3	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive
ENTPD1	Spastic paraplegia 64, autosomal recessive, Autosomal recessive
BLNK	Agammaglobulinemia 4, Autosomal recessive
HOGA1	Hyperoxaluria, primary, type III
ZFYVE27	Spastic paraplegia 33, autosomal dominant, Autosomal dominant
HPS1	Hermansky-Pudlak syndrome 1, Autosomal recessive
HPSE2	Urofacial syndrome 1, Autosomal recessive
GOT1	Aspartate aminotransferase, serum level of, QTL1
COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial
ABCC2	Dubin-Johnson syndrome, Autosomal recessive
CPN1	Carboxypeptidase N deficiency, Autosomal recessive
ERLIN1	Spastic paraplegia 62, Autosomal recessive
CHUK	Cocoon syndrome
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17, Autosomal recessive
PAX2	Glomerulosclerosis, focal segmental, 7, Autosomal dominant;Papillorenal syndrome, Autosomal dominant
TWNK	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant
PDZD7	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant
FGF8	Hypogonadotropic hypogonadism 6 with or without anosmia
HPS6	Hermansky-Pudlak syndrome 6
PITX3	Anterior segment dysgenesis 1, multiple subtypes, Autosomal dominant;Cataract 11, multiple types, Autosomal dominant;Cataract 11, syndromic, Autosomal dominant
NFKB2	Immunodeficiency, common variable, 10, Autosomal dominant
SUFU	Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant
CYP17A1	17-alpha-hydroxylase/17,20-lyase deficiency, Autosomal recessive;17,20-lyase deficiency, isolated, Autosomal recessive
CNNM2	Hypomagnesemia 6, renal, Autosomal dominant;Hypomagnesemia, seizures, and mental retardation, Autosomal recessive, Autosomal dominant
NT5C2	Spastic paraplegia 45, autosomal recessive, Autosomal recessive
STN1	Cerebroretinal microangiopathy with calcifications and cysts 2, Autosomal recessive
COL17A1	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant
ADD3	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive
MXI1	Neurofibrosarcoma (3)
SMC3	Cornelia de Lange syndrome 3, Autosomal dominant
RBM20	Cardiomyopathy, dilated, 1DD, Autosomal dominant
SHOC2	Noonan-like syndrome with loose anagen hair, Autosomal dominant
PNLIP	Pancreatic lipase deficiency, Autosomal recessive
CORD17	Cone-rod dystrophy 17, Autosomal dominant
EMX2	Schizencephaly
NANOS1	Spermatogenic failure 12, Autosomal dominant
SFXN4	Combined oxidative phosphorylation deficiency 18, Autosomal recessive
BAG3	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia, Autosomal dominant
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Autosomal recessive;Apert syndrome, Autosomal dominant;Beare-Stevenson cutis gyrata syndrome, Autosomal dominant;Bent bone dysplasia syndrome, Autosomal dominant;Craniofacial-skeletal-dermatologic dysplasia, Autosomal dominant;Craniosynostosis, nonspecific (3);Crouzon syndrome, Autosomal dominant;Gastric cancer, somatic;Jackson-Weiss syndrome, Autosomal dominant;LADD syndrome, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Saethre-Chotzen syndrome, Autosomal dominant;Scaphocephaly and Axenfeld-Rieger anomaly (3);Scaphocephaly, maxillary retrusion, and mental retardation
HTRA1	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant
ACADSB	2-methylbutyrylglycinuria, Autosomal recessive
OAT	Gyrate atrophy of choroid and retina with or without ornithinemia, Autosomal recessive
MMP21	Heterotaxy, visceral, 7, autosomal, Autosomal recessive
UROS	Porphyria, congenital erythropoietic, Autosomal recessive
EBF3	Hypotonia, ataxia, and delayed development syndrome, Autosomal dominant
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, Autosomal recessive
GINGF4	Fibromatosis, gingival, 4
NNO1	Nanophthalmos-1, Autosomal dominant
IFITM5	Osteogenesis imperfecta, type V, Autosomal dominant
HRAS	Congenital myopathy with excess of muscle spindles, Autosomal dominant, Isolated cases;Costello syndrome, Autosomal dominant, Isolated cases;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
DRD4	Autonomic nervous system dysfunction (3)
DEAF1	Mental retardation, autosomal dominant 24, Autosomal dominant
TALDO1	Transaldolase deficiency, Autosomal recessive
SLC25A22	Epileptic encephalopathy, early infantile, 3, Autosomal recessive
PNPLA2	Neutral lipid storage disease with myopathy, Autosomal recessive
CD151	Nephropathy with pretibial epidermolysis bullosa and deafness
CTSD	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive
TNNI2	Arthrogryposis multiplex congenita, distal, type 2B, Autosomal dominant
TNNT3	Arthyrgryposis, distal, type 2B, Autosomal dominant
H19	Beckwith-Wiedemann syndrome, Autosomal dominant;Silver-Russell syndrome, Isolated cases;Wilms tumor 2, Autosomal dominant, Somatic mutation
INS	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant
TH	Segawa syndrome, recessive, Autosomal recessive
CD81	Immunodeficiency, common variable, 6, Autosomal recessive
KCNQ1	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant
KCNQ1OT1	Beckwith-Wiedemann syndrome, Autosomal dominant
CDKN1C	Beckwith-Wiedemann syndrome, Autosomal dominant;IMAGE syndrome, Autosomal dominant
SLC22A18	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic
PGAP2	Hyperphosphatasia with mental retardation syndrome 3, Autosomal recessive
STIM1	Immunodeficiency 10, Autosomal recessive;Myopathy, tubular aggregate, 1, Autosomal dominant;Stormorken syndrome, Autosomal dominant
HBB	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-
HBD	Thalassemia due to Hb Lepore (3);Thalassemia, delta- (3)
HBG1	Fetal hemoglobin quantitative trait locus 1, Autosomal dominant
HBG2	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant
SMPD1	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive
TPP1	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive
DCHS1	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive
LMO1	Leukemia, T-cell acute lymphoblastic
DENND5A	Epileptic encephalopathy, early infantile, 49
SBF2	Charcot-Marie-Tooth disease, type 4B2, Autosomal recessive
TEAD1	Sveinsson chorioretinal atrophy, Autosomal dominant
PTH	Hypoparathyroidism, autosomal dominant, Autosomal dominant;Hypoparathyroidism, autosomal recessive, Autosomal dominant
FAR1	Peroxisomal fatty acyl-CoA reductase 1 disorder, Autosomal recessive
RRAS2	Ovarian carcinoma (3)
CYP2R1	Rickets due to defect in vitamin D 25-hydroxylation, Autosomal recessive
KCNJ11	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant
ABCC8	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant
USH1C	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive
OTOG	Deafness, autosomal recessive 18B, Autosomal recessive
KCNC1	Epilepsy, progressive myoclonic 7, Autosomal dominant
HPS5	Hermansky-Pudlak syndrome 5
LDHA	Glycogen storage disease XI, Autosomal recessive
TSG101	Breast cancer, somatic
CSRP3	Cardiomyopathy, hypertrophic, 12, Autosomal dominant
SLC6A5	Hyperekplexia 3, Autosomal recessive, Autosomal dominant
ANO5	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive
FANCF	Fanconi anemia, complementation group F
ANO3	Dystonia 24, Autosomal dominant
DFNA59	Deafness, autosomal dominant 59, Autosomal dominant
BDNF	Central hypoventilation syndrome, congenital, Autosomal dominant
FSHB	Hypogonadotropic hypogonadism 24 without anosmia, Autosomal recessive
CANDN1	Candidiasis, familial, 3, Autosomal dominant
DFNB51	Deafness, autosomal recessive 51, Autosomal recessive
EVR3	Exudative vitreoretinopathy 3, Autosomal dominant
MRT23	Mental retardation, autosomal recessive 23, Autosomal recessive
MYP7	Myopia 7, Multifactorial
PAX6	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant
WT1	Denys-Drash syndrome, Autosomal dominant, Somatic mutation;Frasier syndrome, Autosomal dominant, Somatic mutation;Meacham syndrome;Mesothelioma, somatic;Nephrotic syndrome, type 4, Autosomal dominant;Wilms tumor, type 1, Autosomal dominant, Somatic mutation
CD59	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, Autosomal recessive
LMO2	Leukemia, acute T-cell
CAT	Acatalasemia
PDHX	Lacticacidemia due to PDX1 deficiency, Autosomal recessive
SLC1A2	Epileptic encephalopathy, early infantile, 41, Autosomal dominant
RAG1	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive
RAG2	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive
EXT2	Exostoses, multiple, type 2, Autosomal dominant
ALX4	Frontonasal dysplasia 2, Autosomal recessive;Parietal foramina 2, Autosomal dominant
SLC35C1	Congenital disorder of glycosylation, type IIc, Autosomal recessive
PEX16	Peroxisome biogenesis disorder 8A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 8B, Autosomal recessive
ZNF408	Retinitis pigmentosa 72, Autosomal recessive
F2	Dysprothrombinemia, Autosomal recessive;Hypoprothrombinemia, Autosomal recessive;Thrombophilia due to thrombin defect, Autosomal dominant
LRP4	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant
DDB2	Xeroderma pigmentosum, group E, DDB-negative subtype, Autosomal recessive
MYBPC3	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant
SLC39A13	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, Autosomal recessive
RAPSN	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, Autosomal recessive
NDUFS3	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
PTPRJ	Colon cancer, somatic
SERPING1	Angioedema, hereditary, types I and II, Autosomal dominant;Complement component 4, partial deficiency of, Autosomal dominant
CLP1	Pontocerebellar hypoplasia, type 10, Autosomal recessive
FAM111B	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Autosomal dominant
FAM111A	Gracile bone dysplasia, Autosomal dominant;Kenny-Caffey syndrome, type 2, Autosomal dominant
GIF	Intrinsic factor deficiency, Autosomal recessive
MS4A1	Immunodeficiency, common variable, 5, Autosomal recessive
ZP1	Oocyte maturation defect 1, Autosomal recessive
TMEM138	Joubert syndrome 16, Autosomal recessive
TMEM216	Joubert syndrome 2, Autosomal recessive;Meckel syndrome 2, Autosomal recessive
SDHAF2	Paragangliomas 2, Autosomal dominant
BEST1	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant
ROM1	Retinitis pigmentosa 7, digenic, Autosomal recessive, Autosomal dominant
B3GAT3	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive
GANAB	Polycyctic kidney disease 3, Autosomal dominant
BSCL2	Encephalopathy, progressive, with or without lipodystrophy, Autosomal recessive;Lipodystrophy, congenital generalized, type 2, Autosomal recessive;Neuropathy, distal hereditary motor, type VA, Autosomal dominant;Silver spastic paraplegia syndrome, Autosomal dominant
ST3	Cervical carcinoma
ATL3	Neuropathy, hereditary sensory, type IF, Autosomal dominant
FERMT3	Leukocyte adhesion deficiency, type III, Autosomal recessive
SLC22A12	Hypouricemia, renal, Autosomal recessive
PYGM	McArdle disease, Autosomal recessive
MEN1	Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Lipoma, somatic (3);Multiple endocrine neoplasia 1, Autosomal dominant;Parathyroid adenoma, somatic (3)
CAPN1	Spastic paraplegia 76, autosomal recessive, Autosomal recessive
SCYL1	Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive
LTBP3	Dental anomalies and short stature, Autosomal recessive
RNASEH2C	Aicardi-Goutieres syndrome 3, Autosomal recessive
EFEMP2	Cutis laxa, autosomal recessive, type IB, Autosomal recessive
FIBP	Thauvin-Robinet-Faivre syndrome, Autosomal recessive
BANF1	Nestor-Guillermo progeria syndrome, Autosomal recessive
CATSPER1	Spermatogenic failure 7, Autosomal recessive
PACS1	Schuurs-Hoeijmakers syndrome, Autosomal dominant
KLC2	Spastic paraplegia, optic atrophy, and neuropathy, Autosomal recessive
B4GAT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, Autosomal recessive
BBS1	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive
CTSF	Ceroid lipofuscinosis, neuronal, 13, Kufs type, Autosomal recessive
SPTBN2	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive
PC	Pyruvate carboxylase deficiency, Autosomal recessive
CLCF1	Cold-induced sweating syndrome 2, Autosomal recessive
CABP4	Cone-rod synaptic disorder, congenital nonprogressive, Autosomal recessive
AIP	Pituitary adenoma, ACTH-secreting, Autosomal recessive;Pituitary adenoma, growth hormone-secreting, Autosomal dominant, Somatic mutation;Pituitary adenoma, prolactin-secreting
CABP2	Deafness, autosomal recessive 93, Autosomal recessive
NDUFV1	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
NDUFS8	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial
TCIRG1	Osteopetrosis, autosomal recessive 1, Autosomal recessive
LRP5	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant
CPT1A	CPT deficiency, hepatic, type IA, Autosomal recessive
IGHMBP2	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive
FGF3	Deafness, congenital with inner ear agenesis, microtia, and microdontia, Autosomal recessive
FADD	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, Autosomal recessive
DHCR7	Smith-Lemli-Opitz syndrome, Autosomal recessive
NUMA1	Leukemia, acute promyelocytic, somatic
LRTOMT	Deafness, autosomal recessive 63, Autosomal recessive
FOLR1	Neurodegeneration due to cerebral folate transport deficiency, Autosomal recessive
INPPL1	Opsismodysplasia, Autosomal recessive
PHOX2A	Fibrosis of extraocular muscles, congenital, 2, Autosomal recessive
CLPB	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, Autosomal recessive
DNAJB13	Ciliary dyskinesia, primary, 34, Autosomal recessive
KCNE3	Brugada syndrome 6
SERPINH1	Osteogenesis imperfecta, type X, Autosomal recessive
CAPN5	Vitreoretinopathy, neovascular inflammatory, Autosomal dominant
MYO7A	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive
ALG8	Congenital disorder of glycosylation, type Ih
NARS2	Combined oxidative phosphorylation deficiency 24, Autosomal recessive
TENM4	Tremor, hereditary essential, 5, Autosomal dominant
TMEM126B	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
TMEM126A	Optic atrophy 7, Autosomal recessive
PICALM	Leukemia, acute myeloid, somatic
HIKESHI	Leukodystrophy, hypomyelinating, 13, Autosomal recessive
FZD4	Exudative vitreoretinopathy 1, Autosomal dominant;Retinopathy of prematurity, Autosomal dominant
CTSC	Haim-Munk syndrome, Autosomal recessive;Papillon-Lefevre syndrome, Autosomal recessive;Periodontitis 1, juvenile, Autosomal recessive
TYR	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy, Autosomal recessive
MRE11	Ataxia-telangiectasia-like disorder, Autosomal recessive
CEP57	Mosaic variegated aneuploidy syndrome 2, Autosomal recessive
MTMR2	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive
MAML2	Mucoepidermoid salivary gland carcinoma (3)
TRPC6	Glomerulosclerosis, focal segmental, 2
YAP1	Coloboma, ocular, Autosomal dominant;Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, Autosomal dominant
MMP20	Amelogenesis imperfecta, type IIA2, Autosomal recessive
MMP1	COPD, rate of decline of lung function in
MMP13	Metaphyseal anadysplasia 1, Autosomal dominant;Metaphyseal dysplasia, Spahr type, Autosomal recessive;Spondyloepimetaphyseal dysplasia, Missouri type, Autosomal dominant
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive
ACAT1	Alpha-methylacetoacetic aciduria, Autosomal recessive
ATM	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)
EXPH5	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive
RDX	Deafness, autosomal recessive 24, Autosomal recessive
PPP2R1B	Lung cancer, Autosomal recessive
ALG9	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive
CRYAB	Cardiomyopathy, dilated, 1II, Autosomal dominant;Cataract 16, multiple types, Autosomal recessive, Autosomal dominant;Myopathy, myofibrillar, 2, Autosomal dominant;Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, Autosomal recessive
DLAT	Pyruvate dehydrogenase E2 deficiency, Autosomal recessive
SDHD	Carcinoid tumors, intestinal, Autosomal dominant;Cowden syndrome 3;Merkel cell carcinoma, somatic (3);Mitochondrial complex II deficiency, Autosomal recessive;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1, with or without deafness, Autosomal dominant;Pheochromocytoma, Autosomal dominant
PTS	Hyperphenylalaninemia, BH4-deficient, A, Autosomal recessive
ANKK1	Dopamine receptor D2, reduced brain density of (3)
ZBTB16	Leukemia, acute promyelocytic, PL2F/RARA type (3);Skeletal defects, genital hypoplasia, and mental retardation, Autosomal recessive
NNMT	Homocysteine plasma level
APOA5	Hyperchylomicronemia, late-onset, Autosomal dominant
APOC3	Apolipoprotein C-III deficiency
APOA1	Amyloidosis, 3 or more types, Autosomal dominant;ApoA-I and apoC-III deficiency, combined (3);Corneal clouding, autosomal recessive (3);Hypoalphalipoproteinemia
CEP164	Nephronophthisis 15, Autosomal recessive
FXYD2	Hypomagnesemia 2, renal, Autosomal dominant
IL10RA	Inflammatory bowel disease 28, early onset, autosomal recessive, Autosomal recessive
SCN4B	Atrial fibrillation, familial, 17, Autosomal dominant;Long QT syndrome-10, Autosomal dominant
SCN2B	Atrial fibrillation, familial, 14, Autosomal dominant
CD3E	Immunodeficiency 18, Autosomal recessive;Immunodeficiency 18, SCID variant, Autosomal recessive
CD3D	Immunodeficiency 19, Autosomal recessive
CD3G	Immunodeficiency 17, CD3 gamma deficient, Autosomal recessive
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage, Autosomal dominant;Wiedemann-Steiner syndrome, Autosomal dominant
ARCN1	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, Autosomal dominant
TREH	Trehalase deficiency
SLC37A4	Glycogen storage disease Ib, Autosomal recessive;Glycogen storage disease Ic, Autosomal recessive
VPS11	Leukodystrophy, hypomyelinating, 12, Autosomal recessive
HMBS	Porphyria, acute intermittent, Autosomal dominant;Porphyria, acute intermittent, nonerythroid variant, Autosomal dominant
DPAGT1	Congenital disorder of glycosylation, type Ij, Autosomal recessive;Myasthenic syndrome, congenital, 13, with tubular aggregates, Autosomal recessive
CBL	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant
C1QTNF5	Retinal degeneration, late-onset, autosomal dominant, Autosomal dominant
MFRP	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2
NECTIN1	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive
TECTA	Deafness, autosomal dominant 8/12, Autosomal dominant;Deafness, autosomal recessive 21, Autosomal recessive
SC5D	Lathosterolosis, Autosomal recessive
CLMP	Congenital short bowel syndrome, Autosomal recessive
SCN3B	Atrial fibrillation, familial, 16, Autosomal dominant;Brugada syndrome 7, Autosomal dominant
ROBO3	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2A, Autosomal recessive;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, Autosomal dominant
HYLS1	Hydrolethalus syndrome, Autosomal recessive
CDON	Holoprosencephaly 11, Autosomal dominant, Isolated cases
FOXRED1	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
DCPS	Al-Raqad syndrome, Autosomal recessive
KIRREL3	Mental retardation, autosomal dominant 4
KCNJ1	Bartter syndrome, type 2, Autosomal recessive
KCNJ5	Hyperaldosteronism, familial, type III, Autosomal dominant;Long QT syndrome 13, Autosomal dominant
ST14	Ichthyosis, congenital, autosomal recessive 11, Autosomal recessive
DFNB20	Deafness, autosomal recessive 20, Autosomal recessive
JAM3	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, Autosomal recessive
ACAD8	Isobutyryl-CoA dehydrogenase deficiency
WNK1	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant
CACNA2D4	Retinal cone dystrophy 4, Autosomal recessive
CACNA1C	Brugada syndrome 3;Timothy syndrome, Autosomal dominant
CCND2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, Autosomal dominant
FGF23	Hypophosphatemic rickets, autosomal dominant, Autosomal dominant;Osteomalacia, tumor-induced (1);Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive
NDUFA9	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial
KCNA1	Episodic ataxia/myokymia syndrome, Autosomal dominant
KCNA5	Atrial fibrillation, familial, 7, Autosomal dominant
VWF	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive
TNFRSF1A	Periodic fever, familial, Autosomal dominant
SCNN1A	Bronchiectasis with or without elevated sweat chloride 2, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive
CD27	Lymphoproliferative syndrome 2, Autosomal recessive
VAMP1	Spastic ataxia 1, autosomal dominant, Autosomal dominant
CHD4	Sifrim-Hitz-Weiss syndrome, Autosomal dominant
CD4	OKT4 epitope deficiency
GNB3	Night blindness, congenital stationary, type 1H, Autosomal recessive
TPI1	Hemolytic anemia due to triosephosphate isomerase deficiency, Autosomal recessive
ATN1	Dentatorubro-pallidoluysian atrophy, Autosomal dominant
C12orf57	Temtamy syndrome, Autosomal recessive
EMG1	Bowen-Conradi syndrome, Autosomal recessive
C1S	C1s deficiency;Ehlers-Danlos syndrome, periodontal type, 2, Autosomal dominant
C1R	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant
PEX5	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive
GDF3	Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia with coloboma 6;Microphthalmia, isolated 7
AICDA	Immunodeficiency with hyper-IgM, type 2, Autosomal recessive
MFAP5	Aortic aneurysm, familial thoracic 9, Autosomal dominant
A2M	Alpha-2-macroglobulin deficiency, Autosomal dominant
DFNB62	Deafness, autosomal recessive 62, Autosomal recessive
CLEC7A	Candidiasis, familial, 4, autosomal recessive, Autosomal recessive
ETV6	Leukemia, acute myeloid, somatic;Thrombocytopenia 5, Autosomal dominant
LRP6	Tooth agenesis, selective, 7, Autosomal dominant
CDKN1B	Multiple endocrine neoplasia, type IV, Autosomal dominant
GRIN2B	Epileptic encephalopathy, early infantile, 27, Autosomal dominant;Mental retardation, autosomal dominant 6
GUCY2C	Diarrhea 6, Autosomal dominant;Meconium ileus, Autosomal recessive
MGP	Keutel syndrome, Autosomal recessive
PDE6H	Achromatopsia 6, Autosomal recessive, Autosomal dominant;Retinal cone dystrophy 3, Autosomal recessive, Autosomal dominant
PTPRO	Nephrotic syndrome, type 6, Autosomal recessive
PDE3A	Hypertension and brachydactyly syndrome, Autosomal dominant
SLCO1B3	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive
SLCO1B1	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive
PYROXD1	Myopathy, myofibrillar, 8, Autosomal recessive
GYS2	Glycogen storage disease 0, liver, Autosomal recessive
ABCC9	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant
SOX5	Lamb-Shaffer syndrome, Autosomal dominant
KRAS	Bladder cancer, somatic;Breast cancer, somatic;Cardiofaciocutaneous syndrome 2;Gastric cancer, somatic;Leukemia, acute myeloid, Autosomal dominant;Lung cancer, somatic;Noonan syndrome 3;Pancreatic carcinoma, somatic;RAS-associated autoimmune leukoproliferative disorder, Autosomal dominant;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic
AD5	Alzheimer disease-5, Autosomal dominant
PTHLH	Brachydactyly, type E2, Autosomal dominant;Humoral hypercalcemia of malignancy (1)
DDX11	Warsaw breakage syndrome, Autosomal recessive
FGD4	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive
DNM1L	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1, Autosomal dominant
YARS2	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive
PKP2	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant
KIF21A	Fibrosis of extraocular muscles, congenital, 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3B, Autosomal dominant
PRICKLE1	Epilepsy, progressive myoclonic 1B, Autosomal recessive
IRAK4	IRAK4 deficiency;Invasive pneumococcal disease, recurrent isolated, 1
ANO6	Scott syndrome, Autosomal recessive
ENUR2	Enuresis, nocturnal, 2, Autosomal dominant
MRT25	Mental retardation, autosomal recessive 25, Autosomal recessive
VDR	Rickets, vitamin D-resistant, type IIA, Autosomal recessive
COL2A1	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
PFKM	Glycogen storage disease VII, Autosomal recessive
CCDC65	Ciliary dyskinesia, primary, 27, Autosomal recessive
WNT10B	Split-hand/foot malformation 6, Autosomal recessive;Tooth agenesis, selective, 8, Autosomal dominant
WNT1	Osteogenesis imperfecta, type XV, Autosomal recessive
KMT2D	Kabuki syndrome 1, Autosomal dominant
DHH	46XY partial gonadal dysgenesis, with minifascicular neuropathy;46XY sex reversal 7, Autosomal recessive
TUBA1A	Lissencephaly 3, Autosomal dominant
AQP2	Diabetes insipidus, nephrogenic, Autosomal recessive, Autosomal dominant
AQP5	Palmoplantar keratoderma, Bothnian type, Autosomal dominant
GPD1	Hypertriglyceridemia, transient infantile, Autosomal recessive
DIP2B	Mental retardation, FRA12A type, Autosomal dominant
SLC11A2	Anemia, hypochromic microcytic, with iron overload 1, Autosomal recessive
SCN8A	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant
ACVRL1	Telangiectasia, hereditary hemorrhagic, type 2, Autosomal dominant
ACVR1B	Pancreatic cancer, somatic (3)
KRT86	Monilethrix, Autosomal dominant
KRT81	Monilethrix, Autosomal dominant
KRT85	Ectodermal dysplasia 4, hair/nail type, Autosomal recessive
KRT6B	Pachyonychia congenita 4
KRT6C	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, Autosomal dominant
KRT6A	Pachyonychia congenita 3
KRT5	Dowling-Degos disease 1, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Epidermolysis bullosa simplex-MP, Autosomal dominant;Epidermylysis bullosa simplex-MCR
KRT74	Woolly hair, autosomal dominant, Autosomal dominant
KRT2	Ichthyosis bullosa of Siemens, Autosomal dominant
KRT1	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis histrix, Curth-Macklin type, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant;Keratosis palmoplantaris striata III;Palmoplantar keratoderma, epidermolytic, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, Autosomal dominant
KRT3	Meesmann corneal dystrophy, Autosomal dominant
KRT4	White sponge nevus 1, Autosomal dominant
KRT8	Cirrhosis, cryptogenic, Autosomal recessive
KRT18	Cirrhosis, cryptogenic, Autosomal recessive
AAAS	Achalasia-addisonianism-alacrimia syndrome, Autosomal recessive
AMHR2	Persistent Mullerian duct syndrome, type II, Autosomal recessive
HOXC13	Ectodermal dysplasia 9, hair/nail type, Autosomal recessive
HNRNPA1	Amyotrophic lateral sclerosis 20, Autosomal dominant
ITGA7	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive
RDH5	Fundus albipunctatus, Autosomal recessive, Autosomal dominant
MMP19	Cavitary optic disc anomalies, Autosomal dominant
SUOX	Sulfite oxidase deficiency, Autosomal recessive
RPS26	Diamond-Blackfan anemia 10, Autosomal dominant
ERBB3	Lethal congenital contractural syndrome 2, Autosomal recessive
SLC39A5	Myopia 24, autosomal dominant, Autosomal dominant
STAT2	Immunodeficiency 44, Autosomal recessive
MIP	Cataract 15, multiple types
TAC3	Hypogonadotropic hypogonadism 10 with or without anosmia, Autosomal recessive
STAC3	Native American myopathy, Autosomal recessive
MARS	Charcot-Marie-Tooth disease, axonal, type 2U, Autosomal dominant;Interstitial lung and liver disease, Autosomal recessive
DDIT3	Myxoid liposarcoma
KIF5A	Myoclonus, intractable, neonatal, Autosomal dominant;Spastic paraplegia 10, autosomal dominant, Autosomal dominant
B4GALNT1	Spastic paraplegia 26, autosomal recessive, Autosomal recessive
CYP27B1	Vitamin D-dependent rickets, type I, Autosomal recessive
TSFM	Combined oxidative phosphorylation deficiency 3, Autosomal recessive
DPY19L2	Spermatogenic failure 9, Autosomal recessive
TMEM5	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, Autosomal recessive
TBK1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Autosomal dominant
GNS	Mucopolysaccharidosis type IIID, Autosomal recessive
LEMD3	Buschke-Ollendorff syndrome, Autosomal dominant;Melorheostosis with osteopoikilosis, Isolated cases;Osteopoikilosis, Autosomal dominant
MSRB3	Deafness, autosomal recessive 74, Autosomal recessive
HMGA2	Leiomyoma, uterine, somatic
GRIP1	Fraser syndrome, Autosomal recessive
NUP107	Nephrotic syndrome, type 11, Autosomal recessive
LYZ	Amyloidosis, renal, Autosomal dominant
MYP3	Myopia-3, Autosomal dominant
BBS10	Bardet-Biedl syndrome 10, Autosomal recessive
OTOGL	Deafness, autosomal recessive 84B, Autosomal recessive
PTPRQ	Deafness, autosomal recessive 84A, Autosomal recessive
MYF6	Myopathy, centronuclear, 3, Autosomal dominant
CEP290	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive
TMTC3	Lissencephaly 8, Autosomal recessive
KITLG	Deafness, autosomal dominant 69, unilateral or asymmetric, Autosomal dominant;Hyperpigmentation with or without hypopigmentation, Autosomal dominant
CNA1	Cornea plana 1, autosomal dominant, Autosomal dominant
DUSP6	Hypogonadotropic hypogonadism 19 with or without anosmia, Autosomal dominant
POC1B	Cone-rod dystrophy 20, Autosomal recessive
KERA	Cornea plana 2, autosomal recessive, Autosomal recessive
DCN	Corneal dystrophy, congenital stromal, Autosomal dominant
CRADD	Mental retardation, autosomal recessive 34, with variant lissencephaly, Autosomal recessive
CEP83	Nephronophthisis 18, Autosomal recessive
NDUFA12	Leigh syndrome due to mitochondrial complex 1 deficiency, Autosomal recessive, Mitochondrial
SPG36	Spastic paraplegia 36, autosomal dominant, Autosomal dominant
SLC25A3	Mitochondrial phosphate carrier deficiency
SLC17A8	Deafness, autosomal dominant 25, Autosomal dominant
NR1H4	Cholestasis, progressive familial intrahepatic, 5, Autosomal recessive
MYBPC1	Arthrogryposis, distal, type 1B;Lethal congenital contracture syndrome 4, Autosomal recessive
SYCP3	Pregnancy loss, recurrent, 4, Autosomal dominant;Spermatogenic failure 4, Autosomal dominant
GNPTAB	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive
IGF1	Growth retardation with deafness and mental retardation due to IGF1 deficiency, Autosomal recessive
PAH	Phenylketonuria, Autosomal recessive
ASCL1	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant
POLR3B	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive
ISCU	Myopathy with lactic acidosis, hereditary, Autosomal recessive
UNG	Immunodeficiency with hyper IgM, type 5, Autosomal recessive
UBE3B	Kaufman oculocerebrofacial syndrome, Autosomal recessive
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, Autosomal recessive
MVK	Hyper-IgD syndrome, Autosomal recessive;Mevalonic aciduria, Autosomal recessive;Porokeratosis 3, multiple types, Autosomal dominant
TRPV4	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant
ATP2A2	Acrokeratosis verruciformis, Autosomal dominant;Darier disease, Autosomal dominant
TCTN1	Joubert syndrome 13, Autosomal recessive
MYL2	Cardiomyopathy, hypertrophic, 10
SH2B3	Erythrocytosis, somatic;Myelofibrosis, somatic;Thrombocythemia, somatic
ATXN2	Spinocerebellar ataxia 2, Autosomal dominant
ALDH2	Alcohol sensitivity, acute, Autosomal dominant
PTPN11	LEOPARD syndrome 1, Autosomal dominant;Leukemia, juvenile myelomonocytic, somatic;Metachondromatosis, Autosomal dominant;Noonan syndrome 1, Autosomal dominant
NIDDM2	Diabetes mellitus, noninsulin-dependent, 2
TBX5	Holt-Oram syndrome, Autosomal dominant
TBX3	Ulnar-mammary syndrome, Autosomal dominant
MED13L	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant
HSPB8	Charcot-Marie-Tooth disease, axonal, type 2L, Autosomal dominant;Neuropathy, distal hereditary motor, type IIA, Autosomal dominant
CIT	Microcephaly 17, primary, autosomal recessive, Autosomal recessive
COX6A1	Charcot-Marie-Tooth disease, recessive intermediate D, Autosomal recessive
ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive
HNF1A	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma
ORAI1	Immunodeficiency 9, Autosomal recessive;Myopathy, tubular aggregate, 2, Autosomal dominant
HPD	Hawkinsinuria, Autosomal dominant;Tyrosinemia, type III, Autosomal recessive
BCL7A	B-cell non-Hodgkin lymphoma, high-grade (3)
DIABLO	Deafness, autosomal dominant 64, Autosomal dominant
VPS33A	Mucopolysaccharidosis-plus syndrome, Autosomal recessive
C12orf65	Combined oxidative phosphorylation deficiency 7, Autosomal recessive;Spastic paraplegia 55, autosomal recessive, Autosomal recessive
EIF2B1	Leukoencephalopathy with vanishing white matter, Autosomal recessive
TCTN2	Joubert syndrome 24, Autosomal recessive
ATP6V0A2	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive
PUS1	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive
P2RX2	Deafness, autosomal dominant 41, Autosomal dominant
POLE	FILS syndrome, Autosomal recessive
GJA3	Cataract 14, multiple types, Autosomal dominant
GJB2	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant
GJB6	Deafness, autosomal dominant 3B, Autosomal dominant;Deafness, autosomal recessive 1B, Autosomal recessive;Deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant;Ectodermal dysplasia 2, Clouston type, Autosomal dominant
SGCG	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive
SACS	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive
MIPEP	Combined oxidative phosphorylation deficiency 31, Autosomal recessive
CENPJ	Microcephaly 6, primary, autosomal recessive, Autosomal recessive
RNF6	Esophageal carcinoma, somatic
RPL21	Hypotrichosis 12, Autosomal dominant
POLR1D	Treacher Collins syndrome 2, Autosomal dominant
PDX1	MODY, type IV;Pancreatic agenesis 1, Autosomal recessive
FLT3	Leukemia, acute lymphoblastic, somatic;Leukemia, acute myeloid, reduced survival in, somatic;Leukemia, acute myeloid, somatic
POMP	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, Autosomal recessive
B3GLCT	Peters-plus syndrome, Autosomal recessive
ENUR1	Enuresis, nocturnal, 1, Autosomal dominant
BRCA2	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation
KL	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive
SPG20	Troyer syndrome, Autosomal recessive
RFXAP	Bare lymphocyte syndrome, type II, complementation group D, Autosomal recessive
SMAD9	Pulmonary hypertension, primary, 2, Autosomal dominant
EXOSC8	Pontocerebellar hypoplasia, type 1C, Autosomal recessive
FREM2	Fraser syndrome, Autosomal recessive
RIEG2	Rieger syndrome, type 2, Autosomal dominant
SPG24	Spastic paraplegia 24, autosomal recessive, Autosomal recessive
COG6	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive
FOXO1	Rhabdomyosarcoma, alveolar, Autosomal recessive
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, Autosomal recessive
TNFSF11	Osteopetrosis, autosomal recessive 2, Autosomal recessive
SUCLA2	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), Autosomal recessive
ITM2B	Dementia, familial British, Autosomal dominant;Dementia, familial Danish, Autosomal dominant
RB1	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic
LPAR6	Hypotrichosis 8, Autosomal recessive;Woolly hair, autosomal recessive 1, with or without hypotrichosis, Autosomal recessive
RCBTB1	Retinal dystrophy with or without extraocular anomalies, Autosomal recessive
RNASEH2B	Aicardi-Goutieres syndrome 2, Autosomal recessive
ATP7B	Wilson disease, Autosomal recessive
ALG11	Congenital disorder of glycosylation, type Ip, Autosomal recessive
ATXN8	Spinocerebellar ataxia 8, Autosomal dominant
DIAPH3	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant
ATXN8OS	Spinocerebellar ataxia 8, Autosomal dominant
CLN5	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive
EDNRB	ABCD syndrome, Autosomal recessive;Waardenburg syndrome, type 4A, Autosomal recessive, Autosomal dominant
NYS4	Nystagmus 4, congenital, autosomal dominant, Autosomal dominant
SLITRK1	Tourette syndrome, Autosomal dominant
SLITRK6	Deafness and myopia, Autosomal recessive
MIR17HG	Feingold syndrome 2, Autosomal dominant
GPC6	Omodysplasia 1, Autosomal recessive
TGDS	Catel-Manzke syndrome, Autosomal recessive
ZIC2	Holoprosencephaly 5, Autosomal dominant
PCCA	Propionicacidemia, Autosomal recessive
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Autosomal dominant;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Autosomal recessive
FGF14	Spinocerebellar ataxia 27, Autosomal dominant
ERCC5	Cerebrooculofacioskeletal syndrome 3, Autosomal recessive;Xeroderma pigmentosum, group G, Autosomal recessive;Xeroderma pigmentosum, group G/Cockayne syndrome, Autosomal recessive
SLC10A2	Bile acid malabsorption, primary, Autosomal recessive
LIG4	LIG4 syndrome
DFNA33	Deafness, autosomal dominant 33, Autosomal dominant
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant
COL4A2	Porencephaly 2, Autosomal dominant
CARS2	Combined oxidative phosphorylation deficiency 27, Autosomal recessive
ING1	Squamous cell carcinoma, head and neck, somatic
F7	Factor VII deficiency, Autosomal recessive
F10	Factor X deficiency, Autosomal recessive
GRK1	Oguchi disease-2
CHAMP1	Mental retardation, autosomal dominant 40, Autosomal dominant
DFNA53	Deafness, autosomal dominant 53, Autosomal dominant
MRT9	Mental retardation, autosomal recessive, 9/26, Autosomal recessive
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency, Autosomal recessive
ANG	Amyotrophic lateral sclerosis 9
RPGRIP1	Cone-rod dystrophy 13;Leber congenital amaurosis 6
TRAC	Immunodeficiency 7, TCR-alpha/beta deficient, Autosomal recessive
SLC7A7	Lysinuric protein intolerance, Autosomal recessive
CEBPE	Specific granule deficiency, Autosomal recessive
PABPN1	Oculopharyngeal muscular dystrophy, Autosomal dominant
MYH6	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14
MYH7	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant
NRL	Retinal degeneration, autosomal recessive, clumped pigment type (3);Retinitis pigmentosa 27, Autosomal dominant
PCK2	PEPCK deficiency, mitochondrial, Autosomal recessive
ARVD3	Arrhythmogenic right ventricular dysplasia 3, Autosomal dominant
DFNB5	Deafness, autosomal recessive 5, Autosomal recessive
SPG32	Spastic paraplegia 32, autosomal recessive, Autosomal recessive
TINF2	Dyskeratosis congenita, autosomal dominant 3, Autosomal dominant;Revesz syndrome, Autosomal dominant
TGM1	Ichthyosis, congenital, autosomal recessive 1, Autosomal recessive
FOXG1	Rett syndrome, congenital variant, Isolated cases
PRKD1	Congenital heart defects and ectodermal dysplasia, Autosomal dominant
COCH	Deafness, autosomal dominant 9, Autosomal dominant
AP4S1	Spastic paraplegia 52, autosomal recessive, Autosomal recessive
NUBPL	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
CFL2	Nemaline myopathy 7, autosomal recessive, Autosomal recessive
NFKBIA	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, Autosomal dominant
NKX2-1	Chorea, hereditary benign, Autosomal dominant;Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Autosomal dominant
PAX9	Tooth agenesis, selective, 3, Autosomal dominant
SEC23A	Craniolenticulosutural dysplasia, Autosomal recessive
RPS29	Diamond-Blackfan anemia 13, Autosomal dominant
MGAT2	Congenital disorder of glycosylation, type IIa, Autosomal recessive
DNAAF2	Ciliary dyskinesia, primary, 10
SOS2	Noonan syndrome 9, Autosomal dominant
L2HGDH	L-2-hydroxyglutaric aciduria, Autosomal recessive
CTAA1	Cataract 32, multiple types, Autosomal dominant
MYP18	Myopia 18, Autosomal recessive
ATL1	Neuropathy, hereditary sensory, type ID, Autosomal dominant;Spastic paraplegia 3A, autosomal dominant, Autosomal dominant
PYGL	Glycogen storage disease VI, Autosomal recessive
DDHD1	Spastic paraplegia 28, autosomal recessive, Autosomal recessive
BMP4	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11
GCH1	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Autosomal recessive, Autosomal dominant;Hyperphenylalaninemia, BH4-deficient, B, Autosomal recessive
OTX2	Microphthalmia, syndromic 5, Autosomal dominant;Pituitary hormone deficiency, combined, 6, Autosomal dominant;Retinal dystrophy, early-onset, with or without pituitary dysfunction, Autosomal dominant
KIAA0586	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, Autosomal recessive
SIX1	Branchiootic syndrome 3, Autosomal dominant;Deafness, autosomal dominant 23, Autosomal dominant
TRMT5	Combined oxidative phosphorylation deficiency 26, Autosomal recessive
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant
SPTB	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant
GPHN	Molybdenum cofactor deficiency C
RDH12	Leber congenital amaurosis 13, Autosomal recessive
ZFYVE26	Spastic paraplegia 15, autosomal recessive, Autosomal recessive
ACTN1	Bleeding disorder, platelet-type, 15, Autosomal dominant
SMOC1	Microphthalmia with limb anomalies, Autosomal recessive
PSEN1	Acne inversa, familial, 3, Autosomal dominant;Alzheimer disease, type 3, Autosomal dominant;Alzheimer disease, type 3, with spastic paraparesis and apraxia, Autosomal dominant;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Autosomal dominant;Cardiomyopathy, dilated, 1U, Autosomal dominant;Dementia, frontotemporal, Autosomal dominant;Pick disease, Autosomal dominant, Isolated cases
GLC3C	Glaucoma 3, primary congenital, C
DNAL1	Ciliary dyskinesia, primary, 16, Autosomal recessive
COQ6	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive
ALDH6A1	Methylmalonate semialdehyde dehydrogenase deficiency, Autosomal recessive
VSX2	Microphthalmia with coloboma 3;Microphthalmia, isolated 2
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive
NPC2	Niemann-pick disease, type C2, Autosomal recessive
ISCA2	Multiple mitochondrial dysfunctions syndrome 4, Autosomal recessive
LTBP2	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive
EIF2B2	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive
MLH3	Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer, somatic
NEK9	Lethal congenital contracture syndrome 10, Autosomal recessive;Nevus comedonicus, somatic
FLVCR2	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive
TTLL5	Cone-rod dystrophy 19, Autosomal recessive
TGFB3	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant
IFT43	Cranioectodermal dysplasia 3, Autosomal recessive
ESRRB	Deafness, autosomal recessive 35, Autosomal recessive
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, Autosomal recessive
GSTZ1	Tyrosinemia, type Ib (1)
VIPAS39	Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive
SPTLC2	Neuropathy, hereditary sensory and autonomic, type IC, Autosomal dominant
TSHR	Hyperthyroidism, familial gestational;Hyperthyroidism, nonautoimmune, Autosomal dominant, Isolated cases;Hypothyroidism, congenital, nongoitrous, 1, Autosomal recessive;Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3)
GALC	Krabbe disease, Autosomal recessive
SPATA7	Leber congenital amaurosis 3;Retinitis pigmentosa, juvenile, autosomal recessive
ZC3H14	Mental retardation, autosomal recessive 56, Autosomal recessive
TTC8	Bardet-Biedl syndrome 8, Autosomal recessive
TDP1	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
CALM1	Long QT syndrome 14, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 4, Autosomal dominant
GPR68	Amelogenesis imperfecta, hypomaturation type, IIA6, Autosomal recessive
CCDC88C	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive
FBLN5	Cutis laxa, autosomal dominant 2;Cutis laxa, autosomal recessive, type IA, Autosomal recessive;Macular degeneration, age-related, 3, Autosomal dominant;Neuropathy, hereditary, with or without age-related macular degeneration, Autosomal dominant
TRIP11	Achondrogenesis, type IA, Autosomal recessive
ATXN3	Machado-Joseph disease, Autosomal dominant
SLC24A4	Amelogenesis imperfecta, type IIA5, Autosomal recessive
SERPINA6	Corticosteroid-binding globulin deficiency, Autosomal recessive, Autosomal dominant
SERPINA1	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive
SERPINA3	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)
GSC	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, Autosomal recessive
DICER1	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2
GLRX5	Anemia, sideroblastic, 3, pyridoxine-refractory, Autosomal recessive;Spasticity, childhood-onset, with hyperglycinemia, Autosomal recessive
TCL1B	Leukemia/lymphoma, T-cell
TCL1A	Leukemia/lymphoma, T-cell
VRK1	Pontocerebellar hypoplasia type 1A, Autosomal recessive
EML1	Band heterotopia, Autosomal recessive
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 20, Autosomal dominant;Mental retardation, autosomal dominant 13, Autosomal dominant;Spinal muscular atrophy, lower extremity-predominant 1, AD, Autosomal dominant
TECPR2	Spastic paraplegia 49, autosomal recessive, Autosomal recessive
AMN	Megaloblastic anemia-1, Norwegian type, Autosomal recessive
APOPT1	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
INF2	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5
ADSSL1	Myopathy, distal, 5, Autosomal recessive
AKT1	Breast cancer, somatic;Colorectal cancer, somatic;Cowden syndrome 6;Ovarian cancer, somatic;Proteus syndrome, somatic
BRF1	Cerebellofaciodental syndrome, Autosomal recessive
IGHG2	IgG2 deficiency, selective (3)
IGHM	Agammaglobulinemia 1, Autosomal recessive
GLC1I	Glaucoma 1, open angle, I
LCS1	Cholestasis-lymphedema syndrome, Autosomal recessive
NIPA1	Spastic paraplegia 6, autosomal dominant, Autosomal dominant
MKRN3	Precocious puberty, central, 2, Autosomal dominant
MAGEL2	Schaaf-Yang syndrome, Autosomal dominant
NDN	Prader-Willi syndrome, Isolated cases
SNRPN	Prader-Willi syndrome, Isolated cases
UBE3A	Angelman syndrome, Isolated cases
GABRB3	Epileptic encephalopathy, early infantile, 43, Autosomal dominant
OCA2	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive
ATD	Short-rib thoracic dysplasia 1 with or without polydactyly, Autosomal recessive
HERC2	Mental retardation, autosomal recessive 38, Autosomal recessive
NSMCE3	Lung disease, immunodeficiency, and chromosome breakage syndrome, Autosomal recessive
FAN1	Interstitial nephritis, karyomegalic, Autosomal recessive
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive
CHRNA7	Schizophrenia, neurophysiologic defect in
EJM2	Epilepsy, juvenile myoclonic, Autosomal recessive
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive
NOP10	Dyskeratosis congenita, autosomal recessive 1, Autosomal recessive
ACTC1	Atrial septal defect 5, Autosomal dominant;Cardiomyopathy, dilated, 1R, Autosomal dominant;Cardiomyopathy, hypertrophic, 11, Autosomal dominant;Left ventricular noncompaction 4, Autosomal dominant
C15orf41	Dyserythropoietic anemia, congenital, type Ib, Autosomal recessive
SPRED1	Legius syndrome, Autosomal dominant
EIF2AK4	Pulmonary venoocclusive disease 2, Autosomal recessive
BUB1B	Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1, Autosomal recessive
PLCB2	Platelet PLC beta-2 deficiency (1)
IVD	Isovaleric acidemia, Autosomal recessive
CHST14	Ehlers-Danlos syndrome, musculocontractural type 1, Autosomal recessive
KNL1	Microcephaly 4, primary, autosomal recessive, Autosomal recessive
RAD51	Mirror movements 2, Autosomal dominant
DLL4	Adams-Oliver syndrome 6, Autosomal dominant
NDUFAF1	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
MAPKBP1	Nephronophthisis 20, Autosomal recessive
CAPN3	Muscular dystrophy, limb-girdle, type 2A, Autosomal recessive
CDAN1	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive
TTBK2	Spinocerebellar ataxia 11, Autosomal dominant
UBR1	Johanson-Blizzard syndrome, Autosomal recessive
EPB42	Spherocytosis, type 5
TGM5	Peeling skin syndrome 2, Autosomal recessive
TUBGCP4	Microcephaly and chorioretinopathy, autosomal recessive, 3, Autosomal recessive
STRC	Deafness, autosomal recessive 16, Autosomal recessive
CDAN3	Dyserythropoietic anemia, congenital, type III, Autosomal dominant
SPG11	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive
B2M	Immunodeficiency 43, Autosomal recessive
DUOX2	Thyroid dyshormonogenesis 6, Autosomal recessive
DUOXA2	Thyroid dyshormonogenesis 5, Autosomal recessive
GATM	Cerebral creatine deficiency syndrome 3, Autosomal recessive
BLOC1S6	Hermansky-pudlak syndrome 9, Autosomal recessive
SLC24A5	Albinism, oculocutaneous, type VI, Autosomal recessive
SLC12A1	Bartter syndrome, type 1, Autosomal recessive
FBN1	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant
CEP152	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive
AP4E1	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant
CYP19A1	Aromatase deficiency;Aromatase excess syndrome, Autosomal dominant
GLDN	Lethal congenital contracture syndrome 11, Autosomal recessive
GNB5	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive
MYO5A	Griscelli syndrome, type 1, Autosomal recessive
WDR72	Amelogenesis imperfecta, type IIA3, Autosomal recessive
RAB27A	Griscelli syndrome, type 2, Autosomal recessive
DNAAF4	Ciliary dyskinesia, primary, 25, Autosomal recessive
TCF12	Craniosynostosis 3, Autosomal dominant
LIPC	Hepatic lipase deficiency, Autosomal recessive
ADAM10	Reticulate acropigmentation of Kitamura, Autosomal dominant
GLC1N	Glaucoma 1, open angle, N
USH1H	Usher syndrome, type 1H
MYO1E	Glomerulosclerosis, focal segmental, 6, Autosomal recessive
VPS13C	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive
TPM1	Cardiomyopathy, dilated, 1Y, Autosomal dominant;Cardiomyopathy, hypertrophic, 3, Autosomal dominant;Left ventricular noncompaction 9, Autosomal dominant
CA12	Hyperchlorhidrosis, isolated, Autosomal recessive
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive
PPIB	Osteogenesis imperfecta, type IX, Autosomal recessive
TRIP4	Spinal muscular atrophy with congenital bone fractures 1, Autosomal recessive
SPG21	Mast syndrome, Autosomal recessive
MTFMT	Combined oxidative phosphorylation deficiency 15, Autosomal recessive
KBTBD13	Nemaline myopathy 6, autosomal dominant, Autosomal dominant
SLC24A1	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive
MAP2K1	Cardiofaciocutaneous syndrome 3
SMAD6	Aortic valve disease 2, Autosomal dominant
SMAD3	Loeys-Dietz syndrome 3, Autosomal dominant
AAGAB	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant
CLN6	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive
NR2E3	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant
HEXA	GM2-gangliosidosis, several forms, Autosomal recessive;Tay-Sachs disease, Autosomal recessive
BBS4	Bardet-Biedl syndrome 4, Autosomal recessive
HCN4	Brugada syndrome 8;Sick sinus syndrome 2, Autosomal dominant
PML	Leukemia, acute promyelocytic, PML/RARA type (3)
STRA6	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive
CYP11A1	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
MPI	Congenital disorder of glycosylation, type Ib, Autosomal recessive
SIN3A	Witteveen-Kolk syndrome, Autosomal dominant
ETFA	Glutaric acidemia IIA, Autosomal recessive
PSTPIP1	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant
DFNA30	Deafness, autosomal dominant 30, Autosomal dominant
CIB2	Deafness, autosomal recessive 48, Autosomal recessive;Usher syndrome, type IJ, Autosomal recessive
MIR184	EDICT syndrome, Autosomal dominant
FAH	Tyrosinemia, type I, Autosomal recessive
RPS17	Diamond-Blackfan anemia 4, Autosomal dominant
AP3B2	Epileptic encephalopathy, early infantile, 48, Autosomal recessive
WDR73	Galloway-Mowat syndrome, Autosomal recessive
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant
DIH1	Hernia, congenital diaphragmatic 1, Multifactorial
OTSC1	Otosclerosis 1, Autosomal dominant
ACAN	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant
RLBP1	Bothnia retinal dystrophy, Autosomal recessive;Fundus albipunctatus, Autosomal recessive, Autosomal dominant;Newfoundland rod-cone dystrophy;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant
FANCI	Fanconi anemia, complementation group I
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive
KIF7	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive
PLIN1	Lipodystrophy, familial partial, type 4, Autosomal dominant
MESP2	Spondylocostal dysostosis 2, autosomal recessive
IDH2	D-2-hydroxyglutaric aciduria 2
BLM	Bloom syndrome, Autosomal recessive
VPS33B	Arthrogryposis, renal dysfunction, and cholestasis 1, Autosomal recessive
CHD2	Epileptic encephalopathy, childhood-onset, Autosomal dominant
NR2F2	Congenital heart defects, multiple types, 4, Autosomal dominant
IGF1R	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant
ADAMTS17	Weill-Marchesani-like syndrome, Autosomal recessive
CERS3	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive
LINS1	Mental retardation, autosomal recessive 27, Autosomal recessive
ALDH1A3	Microphthalmia, isolated 8, Autosomal recessive
CHSY1	Temtamy preaxial brachydactyly syndrome, Autosomal recessive
NPRL3	Epilepsy, familial focal, with variable foci 3, Autosomal dominant
HBA2	Erythrocytosis (3);Heinz body anemia, Autosomal dominant;Hemoglobin H disease, nondeletional;Hypochromic microcytic anemia (3);Thalassemia, alpha-
HBA1	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-
AXIN1	Hepatocellular carcinoma, somatic
STUB1	Spinocerebellar ataxia, autosomal recessive 16, Autosomal recessive
CCDC78	Myopathy, centronuclear, 4, Autosomal dominant
LMF1	Lipase deficiency, combined, Autosomal recessive
SSTR5	Somatostatin analog, resistance to (3), Autosomal dominant, Somatic mutation
CACNA1H	Hyperaldosteronism, familial, type IV, Autosomal dominant
GNPTG	Mucolipidosis III gamma, Autosomal recessive
CLCN7	Osteopetrosis, autosomal dominant 2, Autosomal dominant;Osteopetrosis, autosomal recessive 4
TELO2	You-Hoover-Fong syndrome, Autosomal recessive
IFT140	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive
IGFALS	Acid-labile subunit, deficiency of
GFER	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
NTHL1	Familial adenomatous polyposis 3, Autosomal recessive
TSC2	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant
PKD1	Polycystic kidney disease, adult type I, Autosomal dominant
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive
TBC1D24	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive
THOC6	Beaulieu-Boycott-Innes syndrome, Autosomal recessive
MEFV	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive
SLX4	Fanconi anemia, complementation group P, Autosomal recessive
CREBBP	Rubinstein-Taybi syndrome 1, Autosomal dominant
GLIS2	Nephronophthisis 7
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, Autosomal recessive
SEPT12	Spermatogenic failure 10, Autosomal dominant
ROGDI	Kohlschutter-Tonz syndrome, Autosomal recessive
ALG1	Congenital disorder of glycosylation, type Ik, Autosomal recessive
ABAT	GABA-transaminase deficiency, Autosomal recessive
PMM2	Congenital disorder of glycosylation, type Ia, Autosomal recessive
GRIN2A	Epilepsy, focal, with speech disorder and with or without mental retardation, Autosomal dominant
EMP2	Nephrotic syndrome, type 10, Autosomal recessive
CIITA	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive
LITAF	Charcot-Marie-Tooth disease, type 1C, Autosomal dominant
ERCC4	Fanconi anemia, complementation group Q, Autosomal recessive;Xeroderma pigmentosum, group F, Autosomal recessive;Xeroderma pigmentosum, type F/Cockayne syndrome, Autosomal recessive
PARN	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant
NDE1	Lissencephaly 4 (with microcephaly), Autosomal recessive
MYH11	Aortic aneurysm, familial thoracic 4, Autosomal dominant
ABCC6	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant
RP22	Retinitis pigmentosa 22
XYLT1	Desbuquois dysplasia 2, Autosomal recessive
UMOD	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2
MRT10	Mental retardation, autosomal recessive 10/20, Autosomal recessive
CRYM	Deafness, autosomal dominant 40, Autosomal dominant
OTOA	Deafness, autosomal recessive 22, Autosomal recessive
UQCRC2	Mitochondrial complex III deficiency, nuclear type 5, Autosomal recessive
SCNN1G	Bronchiectasis with or without elevated sweat chloride 3, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive
COG7	Congenital disorder of glycosylation, type IIe
EARS2	Combined oxidative phosphorylation deficiency 12, Autosomal recessive
PALB2	Fanconi anemia, complementation group N
MMVP1	Mitral valve prolapse, myxomatous 1, Autosomal dominant
IL21R	Immunodeficiency, primary, autosomal recessive, IL21R-related, Autosomal recessive
CLN3	Ceroid lipofuscinosis, neuronal, 3, Autosomal recessive
TUFM	Combined oxidative phosphorylation deficiency 4, Autosomal recessive
ATP2A1	Brody myopathy, Autosomal recessive
CD19	Immunodeficiency, common variable, 3, Autosomal recessive
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2, Autosomal dominant
PRRT2	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant
ALDOA	Glycogen storage disease XII, Autosomal recessive
TBX6	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant
CORO1A	Immunodeficiency 8, Autosomal recessive
SRCAP	Floating-Harbor syndrome, Autosomal dominant
PHKG2	Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, Autosomal recessive
HSD3B7	Bile acid synthesis defect, congenital, 1, Autosomal recessive
STX1B	Generalized epilepsy with febrile seizures plus, type 9, Autosomal dominant
VKORC1	Vitamin K-dependent clotting factors, combined deficiency of, 2;Warfarin resistance, Autosomal dominant
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency
FUS	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia;Tremor, hereditary essential, 4, Autosomal dominant
ARMC5	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation
SLC5A2	Renal glucosuria, Autosomal recessive, Autosomal dominant
ORC6	Meier-Gorlin syndrome 3, Autosomal recessive
GPT2	Mental retardation, autosomal recessive 49, Autosomal recessive
HYD2	Tooth agenesis, selective, 2
PHKB	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive
ZNF423	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant
NOD2	Blau syndrome, Autosomal dominant
CYLD	Brooke-Spiegler syndrome, Autosomal dominant;Cylindromatosis, familial, Autosomal dominant;Trichoepithelioma, multiple familial, 1, Autosomal dominant
SALL1	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant
RPGRIP1L	COACH syndrome, Autosomal recessive;Joubert syndrome 7, Autosomal recessive;Meckel syndrome 5, Autosomal recessive
FTO	Growth retardation, developmental delay, facial dysmorphism, Autosomal recessive
IRX5	Hamamy syndrome, Autosomal recessive
MMP2	Multicentric osteolysis, nodulosis, and arthropathy, Autosomal recessive
SLC6A2	Orthostatic intolerance
CES1	Carboxylesterase 1 deficiency (3)
GNAO1	Epileptic encephalopathy, early infantile, 17, Autosomal dominant
BBS2	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive
NUP93	Nephrotic syndrome, type 12, Autosomal recessive
SLC12A3	Gitelman syndrome, Autosomal recessive
CETP	Hyperalphalipoproteinemia, Autosomal dominant
RSPRY1	Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type, Autosomal recessive
ARL2BP	Retinitis pigmentosa with or without situs inversus, Autosomal recessive
OPA8	Optic atroph 8, Autosomal dominant
COQ9	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive
ADGRG1	Polymicrogyria, bilateral frontoparietal, Autosomal recessive;Polymicrogyria, bilateral perisylvian
KATNB1	Lissencephaly 6, with microcephaly, Autosomal recessive
CNGB1	Retinitis pigmentosa 45, Autosomal recessive
USB1	Poikiloderma with neutropenia, Autosomal recessive
BEAN1	Spinocerebellar ataxia 31, Autosomal dominant
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type), Autosomal recessive
CBFB	Myeloid leukemia, acute, M4/M4Eo subtype, somatic
HSF4	Cataract 5, multiple types, Autosomal dominant
NOL3	Myoclonus, familial cortical, Autosomal dominant
HSD11B2	Apparent mineralocorticoid excess, Autosomal recessive
CTCF	Mental retardation, autosomal dominant 21, Autosomal dominant
LCAT	Fish-eye disease, Autosomal recessive;Norum disease, Autosomal recessive
PRMT7	Short stature, brachydactyly, intellectual developmental disability, and seizures, Autosomal recessive
CDH3	Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Autosomal recessive;Hypotrichosis, congenital, with juvenile macular dystrophy, Autosomal recessive
CDH1	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic
COG8	Congenital disorder of glycosylation, type IIh
AARS	Charcot-Marie-Tooth disease, axonal, type 2N, Autosomal dominant;Epileptic encephalopathy, early infantile, 29, Autosomal recessive
COG4	Congenital disorder of glycosylation, type IIj, Autosomal recessive
VAC14	Striatonigral degeneration, childhood-onset, Autosomal recessive
HYDIN	Ciliary dyskinesia, primary, 5, Autosomal recessive
TAT	Tyrosinemia, type II, Autosomal recessive
DHODH	Miller syndrome, Autosomal recessive
FA2H	Spastic paraplegia 35, autosomal recessive, Autosomal recessive
CHST6	Macular corneal dystrophy, Autosomal recessive
TMEM231	Joubert syndrome 20, Autosomal recessive;Meckel syndrome 11, Autosomal recessive
KARS	Deafness, autosomal recessive 89, Autosomal recessive
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive
WWOX	Epileptic encephalopathy, early infantile, 28, Autosomal recessive;Esophageal squamous cell carcinoma, somatic;Spinocrebellar ataxia, autosomal recessive 12, Autosomal recessive
MAF	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant
GCSH	Glycine encephalopathy, Autosomal recessive
BCO1	Hypercarotenemia and vitamin A deficiency, autosomal dominant, Autosomal dominant
GAN	Giant axonal neuropathy-1, Autosomal recessive
PLCG2	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant
MLYCD	Malonyl-CoA decarboxylase deficiency, Autosomal recessive
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive
DNAAF1	Ciliary dyskinesia, primary, 13, Autosomal recessive
IRF8	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive
FOXF1	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant
FOXC2	Lymphedema-distichiasis syndrome, Autosomal dominant;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, Autosomal dominant
JPH3	Huntington disease-like 2, Autosomal dominant
CA5A	Hyperammonemia due to carbonic anhydrase VA deficiency, Autosomal recessive
ZNF469	Brittle cornea syndrome 1, Autosomal recessive
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, Autosomal recessive
MVD	Porokeratosis 7, multiple types, Autosomal dominant
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive
CDT1	Meier-Gorlin syndrome 4, Autosomal recessive
APRT	Adenine phosphoribosyltransferase deficiency, Autosomal recessive
GALNS	Mucopolysaccharidosis IVA, Autosomal recessive
ACSF3	Combined malonic and methylmalonic aciduria
CDH15	Mental retardation, autosomal dominant 3
ANKRD11	KBG syndrome, Autosomal dominant
SPG7	Spastic paraplegia 7, autosomal recessive, Autosomal recessive, Autosomal dominant
CHMP1A	Pontocerebellar hypoplasia, type 8, Autosomal recessive
FANCA	Fanconi anemia, complementation group A, Autosomal recessive
TUBB3	Cortical dysplasia, complex, with other brain malformations 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3A, Autosomal dominant
GAS8	Ciliary dyskinesia, primary, 33, Autosomal recessive
CACD	Choroidal dystrophy, central areolar 1, Autosomal recessive
CTAA2	Cataract 24, anterior polar, Autosomal dominant
VPS53	Pontocerebellar hypoplasia, type 2E, Autosomal recessive
BHLHA9	Syndactyly, mesoaxial synostotic, with phalangeal reduction, Autosomal recessive
PRPF8	Retinitis pigmentosa 13, Autosomal dominant
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive
SERPINF2	Alpha-2-plasmin inhibitor deficiency, Autosomal recessive
SERPINF1	Osteogenesis imperfecta, type VI
DPH1	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive
PAFAH1B1	Lissencephaly 1, Isolated cases;Subcortical laminar heterotopia, Isolated cases
ASPA	Canavan disease, Autosomal recessive
TRPV3	Olmsted syndrome, Autosomal dominant
CTNS	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive
P2RX1	Bleeding disorder due to P2RX1 defect, somatic
CHRNE	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive
GP1BA	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant
PFN1	Amyotrophic lateral sclerosis 18
KIF1C	Spastic ataxia 2, autosomal recessive, Autosomal recessive
SLC52A1	Riboflavin deficiency, Autosomal dominant
NLRP1	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing
AIPL1	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive
PITPNM3	Cone-rod dystrophy 5, Autosomal dominant
SLC13A5	Epileptic encephalopathy, early infantile, 25, Autosomal recessive
ACADVL	VLCAD deficiency, Autosomal recessive
CHRNB1	Myasthenic syndrome, congenital, 2A, slow-channel, Autosomal dominant
MPDU1	Congenital disorder of glycosylation, type If, Autosomal recessive
TP53	Adrenal cortical carcinoma, Autosomal recessive;Breast cancer, Autosomal dominant;Choroid plexus papilloma, Autosomal dominant;Colorectal cancer, Autosomal dominant;Hepatocellular carcinoma, Somatic mutation;Li-Fraumeni syndrome, Autosomal dominant;Nasopharyngeal carcinoma;Osteosarcoma, Autosomal recessive;Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial
WRAP53	Dyskeratosis congenita, autosomal recessive 3, Autosomal recessive
GUCY2D	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive
ALOX12B	Ichthyosis, congenital, autosomal recessive 2, Autosomal recessive
ALOXE3	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive
HES7	Spondylocostal dysostosis 4, autosomal recessive, Autosomal recessive
SNORD118	Leukoencephalopathy, brain calcifications, and cysts, Autosomal recessive
CTC1	Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive
PIK3R5	Ataxia-oculomotor apraxia 3, Autosomal recessive
MYH8	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant
MYH2	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant
MYH3	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant
SCO1	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
DFNB85	Deafness, autosomal recessive 85, Autosomal recessive
ELAC2	Combined oxidative phosphorylation deficiency 17, Autosomal recessive
COX10	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
PMP22	Charcot-Marie-Tooth disease, type 1A, Autosomal dominant;Charcot-Marie-Tooth disease, type 1E, Autosomal dominant;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant;Neuropathy, recurrent, with pressure palsies, Autosomal dominant;Roussy-Levy syndrome, Autosomal dominant
TTC19	Mitochondrial complex III deficiency, nuclear type 2, Autosomal recessive
PIGL	CHIME syndrome, Autosomal recessive
UBB	Cleft palate, isolated, Autosomal dominant
TNFRSF13B	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2
FLCN	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic
RAI1	Smith-Magenis syndrome, Autosomal dominant, Isolated cases
ATPAF2	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Autosomal recessive
MYO15A	Deafness, autosomal recessive 3, Autosomal recessive
B9D1	Joubert syndrome 27, Autosomal recessive
ALDH3A2	Sjogren-Larsson syndrome, Autosomal recessive
TMEM199	Congenital disorder of glycosylation, type IIp, Autosomal recessive
SLC46A1	Folate malabsorption, hereditary, Autosomal recessive
FOXN1	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Autosomal recessive
CRYBA1	Cataract 10, multiple types, Autosomal dominant
RNF135	Macrocephaly, macrosomia, facial dysmorphism syndrome
NF1	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant
TMEM98	Nanophthalmos 4, Autosomal dominant
SLFN14	Bleeding disorder, platelet-type, 20, Autosomal dominant
PEX12	Peroxisome biogenesis disorder 3A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 3B, Autosomal recessive
TAF15	Chondrosarcoma, extraskeletal myxoid
ACACA	Acetyl-CoA carboxylase deficiency, Autosomal recessive
HNF1B	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant
GPR179	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive
TCAP	Cardiomyopathy, hypertrophic, 25, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2G, Autosomal recessive
PGAP3	Hyperphosphatasia with mental retardation syndrome 4, Autosomal recessive
ERBB2	Adenocarcinoma of lung, somatic;Gastric cancer, somatic;Glioblastoma, somatic;Ovarian cancer, somatic (3)
MYP5	Myopia 5, Autosomal dominant
PTLAH	Patella aplasia or hypoplasia, Autosomal dominant
THRA	Hypothyroidism, congenital, nongoitrous, 6, Autosomal dominant
RARA	Leukemia, acute promyelocytic
TOP2A	DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
SMARCE1	Coffin-Siris syndrome 5, Autosomal dominant
KRT25	Woolly hair, autosomal recessive 3, Autosomal recessive
KRT10	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant
KRT12	Meesmann corneal dystrophy, Autosomal dominant
KRT13	White sponge nevus 2, Autosomal dominant
KRT9	Palmoplantar keratoderma, epidermolytic, Autosomal dominant
KRT14	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant
KRT16	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant
KRT17	Pachyonychia congenita 2, Autosomal dominant;Steatocystoma multiplex, Autosomal dominant
JUP	Arrhythmogenic right ventricular dysplasia 12, Autosomal dominant;Naxos disease, Autosomal recessive
FKBP10	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive
KLHL10	Spermatogenic failure 11, Autosomal dominant
TTC25	Ciliary dyskinesia, primary, 35, Autosomal recessive
STAT5B	Growth hormone insensitivity with immunodeficiency;Leukemia, acute promyelocytic, somatic
STAT3	Autoimmune disease, multisystem, infantile-onset, 1, Autosomal dominant;Hyper-IgE recurrent infection syndrome, Autosomal dominant
CAVIN1	Lipodystrophy, congenital generalized, type 4, Autosomal recessive
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B), Autosomal recessive
COASY	Neurodegeneration with brain iron accumulation 6, Autosomal recessive
PSMC3IP	Ovarian dysgenesis 3, Autosomal recessive
TUBG1	Cortical dysplasia, complex, with other brain malformations 4, Autosomal dominant
CNTNAP1	Lethal congenital contracture syndrome 7, Autosomal recessive
WNK4	Pseudohypoaldosteronism, type IIB, Autosomal dominant
G6PC	Glycogen storage disease Ia, Autosomal recessive
MEOX1	Klippel-Feil syndrome 2, Autosomal recessive
SOST	Craniodiaphyseal dysplasia, autosomal dominant, Autosomal dominant;Sclerosteosis 1, Autosomal recessive;Van Buchem disease, Autosomal recessive
NAGS	N-acetylglutamate synthase deficiency, Autosomal recessive
G6PC3	Dursun syndrome, Autosomal recessive;Neutropenia, severe congenital 4, autosomal recessive, Autosomal recessive
SLC4A1	Cryohydrocytosis, Autosomal dominant;Ovalocytosis, SA type, Autosomal dominant;Renal tubular acidosis, distal, AD, Autosomal dominant;Renal tubular acidosis, distal, AR, Autosomal recessive;Spherocytosis, type 4, Autosomal dominant
GRN	Aphasia, primary progressive, Autosomal dominant;Ceroid lipofuscinosis, neuronal, 11, Autosomal recessive;Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Autosomal dominant
ITGA2B	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
EFTUD2	Mandibulofacial dysostosis, Guion-Almeida type, Autosomal dominant
CCDC103	Ciliary dyskinesia, primary, 17, Autosomal recessive
GFAP	Alexander disease, Autosomal dominant
PLEKHM1	Osteopetrosis, autosomal recessive 6
MAPT	Dementia, frontotemporal, with or without parkinsonism, Autosomal dominant;Pick disease, Autosomal dominant, Isolated cases;Supranuclear palsy, progressive, Autosomal dominant;Supranuclear palsy, progressive atypical, Autosomal recessive
KANSL1	Koolen-De Vries syndrome, Autosomal dominant
GOSR2	Epilepsy, progressive myoclonic 6, Autosomal recessive
ITGB3	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Purpura, posttransfusion (3);Thrombocytopenia, neonatal alloimmune (3)
TBX21	Asthma and nasal polyps, Autosomal recessive
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency, Autosomal recessive
HOXB1	Facial paresis, hereditary congenital, 3, Autosomal recessive
DLX3	Amelogenesis imperfecta, type IV, Autosomal dominant;Trichodontoosseous syndrome, Autosomal dominant
ITGA3	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, Autosomal recessive
SGCA	Muscular dystrophy, limb-girdle, type 2D, Autosomal recessive
COL1A1	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant
XYLT2	Spondyloocular syndrome, Autosomal recessive
CACNA1G	Spinocerebellar ataxia 42, Autosomal dominant
NME1	Neuroblastoma, Autosomal dominant, Isolated cases
NOG	Brachydactyly, type B2, Autosomal dominant;Multiple synostoses syndrome 1, Autosomal dominant;Stapes ankylosis with broad thumb and toes, Autosomal dominant;Symphalangism, proximal, 1A, Autosomal dominant;Tarsal-carpal coalition syndrome, Autosomal dominant
DGKE	Nephrotic syndrome, type 7, Autosomal recessive
MKS1	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive
MPO	Myeloperoxidase deficiency, Autosomal recessive
RNF43	Sessile serrated polyposis cancer syndrome, Autosomal dominant
RAD51C	Fanconi anemia, complementation group O, Autosomal recessive
TRIM37	Mulibrey nanism, Autosomal recessive
PTRH2	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, Autosomal recessive
CA4	Retinitis pigmentosa 17, Autosomal dominant
PPM1D	Breast cancer, Autosomal dominant
TBX4	Ischiocoxopodopatellar syndrome, Autosomal dominant
BRIP1	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J
ACE	Renal tubular dysgenesis, Autosomal recessive
TACO1	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
STRADA	Polyhydramnios, megalencephaly, and symptomatic epilepsy, Autosomal recessive
GH1	Growth hormone deficiency, isolated, type IA, Autosomal recessive;Growth hormone deficiency, isolated, type IB;Growth hormone deficiency, isolated, type II, Autosomal dominant;Kowarski syndrome, Autosomal recessive
CD79B	Agammaglobulinemia 6, Autosomal recessive
SCN4A	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant
POLG2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Autosomal dominant
CCA1	Cataract 7, Autosomal dominant
RGS9	Bradyopsia
AXIN2	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant
PRKCA	Pituitary tumor, invasive (3)
PRKAR1A	Acrodysostosis 1, with or without hormone resistance, Autosomal dominant;Adrenocortical tumor, somatic (3);Carney complex, type 1, Autosomal dominant;Myxoma, intracardiac, Autosomal dominant;Pigmented nodular adrenocortical disease, primary, 1, Autosomal dominant
FAM20A	Amelogenesis imperfecta, type IG (enamel-renal syndrome), Autosomal recessive
KCNJ2	Andersen syndrome, Autosomal dominant;Atrial fibrillation, familial, 9, Autosomal dominant;Short QT syndrome 3
SOX9	Acampomelic campomelic dysplasia, Autosomal dominant;Campomelic dysplasia, Autosomal dominant;Campomelic dysplasia with autosomal sex reversal, Autosomal dominant
COG1	Congenital disorder of glycosylation, type IIg
DNAI2	Ciliary dyskinesia, primary, 9, with or without situs inversus
SLC9A3R1	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Autosomal dominant
USH1G	Usher syndrome, type 1G, Autosomal recessive
SLC25A19	Microcephaly, Amish type, Autosomal recessive;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), Autosomal recessive
TSEN54	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive
ITGB4	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive
GALK1	Galactokinase deficiency with cataracts, Autosomal recessive
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3
ACOX1	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive
RHBDF2	Tylosis with esophageal cancer, Autosomal dominant
PRCD	Retinitis pigmentosa 36
METTL23	Mental retardation, autosomal recessive 44, Autosomal recessive
SEPT9	Amyotrophy, hereditary neuralgic, Autosomal dominant;Leukemia, acute myeloid, therapy-related (1);Ovarian carcinoma (1)
TMC6	Epidermodysplasia verruciformis, Autosomal recessive
TMC8	Epidermodysplasia verruciformis, Autosomal recessive
CANT1	Desbuquois dysplasia 1, Autosomal recessive
CCDC40	Ciliary dyskinesia, primary, 15
GAA	Glycogen storage disease II, Autosomal recessive
EIF4A3	Robin sequence with cleft mandible and limb anomalies, Autosomal recessive
CARD14	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant
SGSH	Mucopolysaccharidosis type IIIA (Sanfilippo A), Autosomal recessive
ACTG1	Baraitser-Winter syndrome 2, Autosomal dominant;Deafness, autosomal dominant 20/26, Autosomal dominant
FSCN2	Retinitis pigmentosa 30
PDE6G	Retinitis pigmentosa 57, Autosomal recessive
P4HB	Cole-Carpenter syndrome 1, Autosomal dominant
ARHGDIA	Nephrotic syndrome, type 8, Autosomal recessive
PYCR1	Cutis laxa, autosomal recessive, type IIB, Autosomal recessive;Cutis laxa, autosomal recessive, type IIIB
ASPSCR1	Alveolar soft-part sarcoma
CSNK1D	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive
ZNF750	Seborrhea-like dermatitis with psoriasiform elements
DFNB46	Deafness, autosomal recessive 46, Autosomal recessive
DYT15	Dystonia-15, myoclonic, Autosomal dominant
DYT7	Dystonia-7, torsion, Autosomal dominant
MRT19	Mental retardation, autosomal recessive 19, Autosomal recessive
SMCHD1	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic
MYP2	Myopia-2, Autosomal dominant
LPIN2	Majeed syndrome
TGIF1	Holoprosencephaly 4, Autosomal dominant
LAMA1	Poretti-Boltshauser syndrome, Autosomal recessive
FEB6	Febrile seizures, familial, 6, Autosomal dominant
NDUFV2	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
APCDD1	Hypotrichosis 1
PIEZO2	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive
GNAL	Dystonia 25, Autosomal dominant
AFG3L2	Spastic ataxia 5, autosomal recessive, Autosomal recessive;Spinocerebellar ataxia 28, Autosomal dominant
MC2R	Glucocorticoid deficiency, due to ACTH unresponsiveness, Autosomal recessive
MIB1	Left ventricular noncompaction 7, Autosomal dominant
GATA6	Atrial septal defect 9, Autosomal dominant;Atrioventricular septal defect 5, Autosomal dominant;Pancreatic agenesis and congenital heart defects, Autosomal dominant;Persistent truncus arteriosus;Tetralogy of Fallot, Autosomal dominant
RBBP8	Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive
NPC1	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive
LAMA3	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive
SS18	Sarcoma, synovial (1)
KCTD1	Scalp-ear-nipple syndrome, Autosomal dominant
DSC2	Arrhythmogenic right ventricular dysplasia 11, Autosomal recessive, Autosomal dominant;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, Autosomal recessive, Autosomal dominant
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant
DSG4	Hypotrichosis 6, Autosomal recessive
DSG2	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB
TTR	Amyloidosis, hereditary, transthyretin-related, Autosomal dominant;Carpal tunnel syndrome, familial, Autosomal dominant
RNF125	Tenorio syndrome, Autosomal dominant
ASXL3	Bainbridge-Ropers syndrome
DTNA	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant
MAPRE2	Symmetric circumferential skin creases, congenital, 2, Autosomal dominant
OPA4	Optic atrophy 4
ELP2	Mental retardation, autosomal recessive 58, Autosomal recessive
MOCOS	Xanthinuria, type II, Autosomal recessive
SETBP1	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant
EPG5	Vici syndrome, Autosomal recessive
ALS3	Amyotrophic lateral sclerosis 3, Autosomal dominant
CORD1	Cone-rod retinal dystrophy-1, Autosomal dominant
LOXHD1	Deafness, autosomal recessive 77, Autosomal recessive
IER3IP1	Microcephaly, epilepsy, and diabetes syndrome, Autosomal recessive
DYM	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive
MYO5B	Microvillus inclusion disease, Autosomal recessive
CFAP53	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Autosomal dominant;Myhre syndrome, Autosomal dominant;Pancreatic cancer, somatic;Polyposis, juvenile intestinal, Autosomal dominant
DCC	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant
TCF4	Corneal dystrophy, Fuchs endothelial, 3, Autosomal dominant;Pitt-Hopkins syndrome, Autosomal dominant
FECH	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive
ATP8B1	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive
NEDD4L	Periventricular nodular heterotopia 7, Autosomal dominant
MALT1	Immunodeficiency 12, Autosomal recessive
RAX	Microphthalmia, isolated 3, Autosomal recessive
LMAN1	Combined factor V and VIII deficiency, Autosomal recessive
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive
MC4R	Obesity, autosomal dominant, Autosomal recessive, Autosomal dominant, Multifactorial
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, Autosomal recessive
TNFRSF11A	Osteolysis, familial expansile, Autosomal dominant;Osteopetrosis, autosomal recessive 7
BCL2	Leukemia/lymphoma, B-cell
KDSR	Lymphoma/leukemia, B-cell, variant (1)
SERPINB7	Palmoplantar keratoderma, Nagashima type, Autosomal recessive
SERPINB8	Peeling skin syndrome 5, Autosomal recessive
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive
TSHZ1	Aural atresia, congenital, Autosomal dominant
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive
TXNL4A	Burn-McKeown syndrome, Autosomal recessive
EXT3	Exostoses, multiple, type 3, Autosomal dominant
FEB2	Febrile seizures, familial, 2, Autosomal dominant
MDRV	Muscular dystrophy with rimmed vacuoles, Autosomal dominant
ELANE	Neutropenia, cyclic, Autosomal dominant;Neutropenia, severe congenital 1, autosomal dominant, Autosomal dominant
CFD	Complement factor D deficiency, Autosomal recessive
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia, Autosomal recessive
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type, Autosomal recessive
STK11	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic
NDUFS7	Leigh syndrome, Autosomal recessive, Mitochondrial
GAMT	Cerebral creatine deficiency syndrome 2, Autosomal recessive
REEP6	Retinitis pigmentosa 77, Autosomal recessive
TCF3	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant
ADAT3	Mental retardation, autosomal recessive 36, Autosomal recessive
AMH	Persistent Mullerian duct syndrome, type I, Autosomal recessive
TLE6	Preimplantation embryonic lethality, Autosomal recessive
GNA11	Hypocalcemia, autosomal dominant 2, Autosomal dominant;Hypocalciuric hypercalcemia, type II, Autosomal dominant
GIPC3	Deafness, autosomal recessive 15, Autosomal recessive
PIP5K1C	Lethal congenital contractural syndrome 3, Autosomal recessive
RAX2	Cone-rod dystrophy 11, Autosomal dominant
ATCAY	Ataxia, cerebellar, Cayman type, Autosomal recessive
MAP2K2	Cardiofaciocutaneous syndrome 4
SH3GL1	Leukemia, acute myeloid, Autosomal dominant
LONP1	CODAS syndrome, Autosomal recessive
FUT6	Fucosyltransferase 6 deficiency
NDUFA11	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
CLPP	Perrault syndrome 3, Autosomal recessive
TUBB4A	Dystonia 4, torsion, autosomal dominant, Autosomal dominant;Leukodystrophy, hypomyelinating, 6, Autosomal dominant
C3	C3 deficiency, Autosomal recessive
PCOS1	Polycystic ovary syndrome 1, Autosomal dominant
INSR	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive
MCOLN1	Mucolipidosis IV, Autosomal recessive
PNPLA6	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive
PET100	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
STXBP2	Hemophagocytic lymphohistiocytosis, familial, 5
CLEC4M	SARS infection, protection against
CD320	Methylmalonic aciduria, transient, due to transcobalamin receptor defect
RPS28	Diamond Blackfan anemia 15 with mandibulofacial dysostosis, Autosomal dominant
ANGPTL4	Plasma triglyceride level QTL, low, Autosomal dominant
ADAMTS10	Weill-Marchesani syndrome 1, recessive, Autosomal recessive
DNMT1	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant
S1PR2	Deafness, autosomal recessive 68, Autosomal recessive
TYK2	Immunodeficiency 35, Autosomal recessive
DNM2	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant
SMARCA4	Coffin-Siris syndrome 4, Autosomal dominant
LDLR	Hypercholesterolemia, familial, Autosomal dominant;LDL cholesterol level QTL2, Autosomal dominant
KANK2	Palmoplantar keratoderma and woolly hair, Autosomal recessive
DOCK6	Adams-Oliver syndrome 2, Autosomal recessive
CCDC151	Ciliary dyskinesia, primary, 30, Autosomal recessive
PRKCSH	Polycystic liver disease 1, Autosomal dominant
ACP5	Spondyloenchondrodysplasia with immune dysregulation, Autosomal recessive
MAN2B1	Mannosidosis, alpha-, types I and II, Autosomal recessive
RNASEH2A	Aicardi-Goutieres syndrome 4, Autosomal recessive
KLF1	Blood group--Lutheran inhibitor;Dyserythropoietic anemia, congenital, type IV, Autosomal dominant
GCDH	Glutaricaciduria, type I, Autosomal recessive
CALR	Myelofibrosis, somatic;Thrombocythemia, somatic
NFIX	Marshall-Smith syndrome, Autosomal dominant;Sotos syndrome 2, Autosomal dominant
LYL1	Leukemia, T-cell acute lymphoblastoid
CACNA1A	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant
CC2D1A	Mental retardation, autosomal recessive 3, Autosomal recessive
PRKACA	Cushing syndrome, ACTH-independent adrenal, somatic
TECR	Mental retardation, autosomal recessive 14, Autosomal recessive
ADGRE2	Vibratory urticaria, Autosomal dominant
CASP14	Ichthyosis, congenital, autosomal recessive 12, Autosomal recessive
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant
CYP4F22	Ichthyosis, congenital, autosomal recessive 5, Autosomal recessive
CPAMD8	Anterior segement dysgenesis 8, Autosomal recessive
GTPBP3	Combined oxidative phosphorylation deficiency 23, Autosomal recessive
INSL3	Cryptorchidism, Autosomal dominant
JAK3	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive
SLC5A5	Thyroid dyshormonogenesis 1, Autosomal recessive
IL12RB1	Immunodeficiency 30, Autosomal recessive
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Autosomal dominant
CRLF1	Cold-induced sweating syndrome 1, Autosomal recessive
CRTC1	Mucoepidermoid salivary gland carcinoma (3)
COMP	Epiphyseal dysplasia, multiple, 1, Autosomal dominant;Pseudoachondroplasia, Autosomal dominant
GDF1	Double-outlet right ventricle;Right atrial isomerism, Autosomal recessive;Tetralogy of Fallot, Autosomal dominant;Transposition of great arteries, dextro-looped 3, Autosomal dominant
RFXANK	MHC class II deficiency, complementation group B, Autosomal recessive
C19orf12	Neurodegeneration with brain iron accumulation 4, Autosomal recessive
ANIB2	Aneurysm, intracranial berry, 2
OFC3	Orofacial cleft-3, ?Autosomal dominant
RGS9BP	Bradyopsia
SLC7A9	Cystinuria, Autosomal recessive, Autosomal dominant
CEBPA	Leukemia, acute myeloid, somatic
PEPD	Prolidase deficiency, Autosomal recessive
GPI	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive
SCN1B	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive
HAMP	Hemochromatosis, type 2B, Autosomal recessive
MAG	Spastic paraplegia 75, autosomal recessive, Autosomal recessive
COX6B1	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial
KMT2B	Dystonia 28, childhood-onset, Autosomal dominant
PSENEN	Acne inversa, familial, 2, Autosomal dominant
NPHS1	Nephrotic syndrome, type 1, Autosomal recessive
TYROBP	Nasu-Hakola disease, Autosomal recessive
SDHAF1	Mitochondrial complex II deficiency, Autosomal recessive
SYNE4	Deafness, autosomal recessive 76, Autosomal recessive
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive
MRT11	Mental retardation, autosomal recessive, 11, Autosomal recessive
SPINT2	Diarrhea 3, secretory sodium, congenital, syndromic, Autosomal recessive
RYR1	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant
ACTN4	Glomerulosclerosis, focal segmental, 1, Autosomal dominant
SARS2	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive
PLEKHG2	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive
DLL3	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive
DYRK1B	Abdominal obesity-metabolic syndrome 3, Autosomal dominant
AKT2	Diabetes mellitus, type II, Autosomal dominant;Hypoinsulinemic hypoglycemia with hemihypertrophy, Autosomal dominant
PRX	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant
LTBP4	Cutis laxa, autosomal recessive, type IC, Autosomal recessive
COQ8B	Nephrotic syndrome, type 9, Autosomal recessive
CYP2A6	Coumarin resistance, Autosomal dominant
CYP2B6	Efavirenz, poor metabolism of
TGFB1	Camurati-Engelmann disease, Autosomal dominant
B9D2	Meckel syndrome 10, Autosomal recessive
BCKDHA	Maple syrup urine disease, type Ia, Autosomal recessive
RPS19	Diamond-Blackfan anemia 1, Autosomal dominant
CD79A	Agammaglobulinemia 3, Autosomal recessive
ATP1A3	Alternating hemiplegia of childhood 2, Autosomal dominant;CAPOS syndrome, Autosomal dominant;Dystonia-12, Autosomal dominant
ERF	Chitayat syndrome, Autosomal dominant;Craniosynostosis 4, Autosomal dominant
MEGF8	Carpenter syndrome 2, Autosomal recessive
LIPE	Lipodystrophy, familial partial, type 6, Autosomal recessive
ETHE1	Ethylmalonic encephalopathy, Autosomal recessive
SMG9	Heart and brain malformation syndrome, Autosomal recessive
KCNN4	Dehydrated hereditary stomatocytosis 2, Autosomal dominant
CEACAM16	Deafness, autosomal dominant 4B, Autosomal dominant
BCL3	Leukemia/lymphoma, B-cell, 3
APOE	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive
APOC2	Hyperlipoproteinemia, type Ib, Autosomal recessive
BLOC1S3	Hermansky-Pudlak syndrome 8
ERCC2	Cerebrooculofacioskeletal syndrome 2;Trichothiodystrophy 1, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group D, Autosomal recessive
ERCC1	Cerebrooculofacioskeletal syndrome 4, Autosomal recessive
RTN2	Spastic paraplegia 12, autosomal dominant, Autosomal dominant
OPA3	3-methylglutaconic aciduria, type III, Autosomal recessive;Optic atrophy 3 with cataract, Autosomal dominant
SIX5	Branchiootorenal syndrome 2
DMPK	Myotonic dystrophy 1, Autosomal dominant
CCDC8	3-M syndrome 3, Autosomal recessive
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive
AP2S1	Hypocalciuric hypercalcemia, type III, Autosomal dominant
KPTN	Mental retardation, autosomal recessive 41, Autosomal recessive
CRX	Cone-rod retinal dystrophy-2, Autosomal dominant;Leber congenital amaurosis 7
LIG1	DNA ligase I deficiency (3)
CCDC114	Ciliary dyskinesia, primary, 20, Autosomal recessive
GRIN2D	Epileptic encephalopathy, early infantile, 46, Autosomal dominant
BAX	Colorectal cancer, somatic;T-cell acute lymphoblastic leukemia, somatic
FTL	Hyperferritinemia-cataract syndrome, Autosomal dominant;L-ferritin deficiency, dominant and recessive, Autosomal recessive, Autosomal dominant;Neurodegeneration with brain iron accumulation 3, Autosomal dominant
GYS1	Glycogen storage disease 0, muscle, Autosomal recessive
LHB	Hypogonadotropic hypogonadism 23 with or without anosmia, Autosomal recessive
NTF4	Glaucoma 1, open angle, 1O
TRPM4	Progressive familial heart block, type IB, Autosomal dominant
FUZ	Neural tube defects, Autosomal dominant
MED25	Basel-Vanagait-Smirin-Yosef syndrome, Autosomal recessive
PNKP	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive
NUP62	Striatonigral degeneration, infantile, Autosomal recessive
MYH14	Deafness, autosomal dominant 4A, Autosomal dominant
KCNC3	Spinocerebellar ataxia 13, Autosomal dominant
POLD1	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant
ACPT	Amelogenesis imperfecta, type IJ, Autosomal recessive
KLK4	Amelogenesis imperfecta, type IIA1, Autosomal recessive
ETFB	Glutaric acidemia IIB, Autosomal recessive
LIM2	Cataract 19, multiple types, Autosomal recessive
PPP2R1A	Mental retardation, autosomal dominant 36, Autosomal dominant
NLRP12	Familial cold autoinflammatory syndrome 2, Autosomal dominant
PRKCG	Spinocerebellar ataxia 14, Autosomal dominant
PRPF31	Retinitis pigmentosa 11, Autosomal dominant
MBOAT7	Mental retardation, autosomal recessive 57, Autosomal recessive
NLRP7	Hydatidiform mole, recurrent, 1, Autosomal recessive
GP6	Bleeding disorder, platelet-type, 11, Autosomal recessive
TNNT1	Nemaline myopathy 5, Amish type, Autosomal recessive
TNNI3	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant
DNAAF3	Ciliary dyskinesia, primary, 2, Autosomal recessive
AURKC	Spermatogenic failure 5, Autosomal recessive
ALS7	Amyotrophic lateral sclerosis 7
RBCK1	Polyglucosan body myopathy 1 with or without immunodeficiency, Autosomal recessive
TBC1D20	Warburg micro syndrome 4, Autosomal recessive
CSNK2A1	Okur-Chung neurodevelopmental syndrome, Autosomal dominant
SLC52A3	Brown-Vialetto-Van Laere syndrome 1, Autosomal recessive;Fazio-Londe disease, Autosomal recessive
RSPO4	Anonychia congenita, Autosomal recessive
PDYN	Spinocerebellar ataxia 23, Autosomal dominant
TGM6	Spinocerebellar ataxia 35, Autosomal dominant
SNRPB	Cerebrocostomandibular syndrome, Autosomal dominant
NOP56	Spinocerebellar ataxia 36, Autosomal dominant
IDH3B	Retinitis pigmentosa 46
AVP	Diabetes insipidus, neurohypophyseal, Autosomal dominant
ITPA	Epileptic encephalopathy, early infantile, 35, Autosomal recessive
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive
PANK2	HARP syndrome, Autosomal recessive;Neurodegeneration with brain iron accumulation 1, Autosomal recessive
PRNP	Cerebral amyloid angiopathy, PRNP-related, Autosomal dominant;Creutzfeldt-Jakob disease, Autosomal dominant;Gerstmann-Straussler disease, Autosomal dominant;Huntington disease-like 1, Autosomal dominant;Insomnia, fatal familial, Autosomal dominant;Prion disease with protracted course, Autosomal dominant
GLC1K	Glaucoma 1K, primary open angle, juvenile-onset
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia, Autosomal dominant
FERMT1	Kindler syndrome, Autosomal recessive
BMP2	Brachydactyly, type A2, Autosomal dominant
PLCB1	Epileptic encephalopathy, early infantile, 12, Autosomal recessive
PLCB4	Auriculocondylar syndrome 2, Autosomal recessive, Autosomal dominant
MKKS	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive
JAG1	Alagille syndrome 1, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant
NDUFAF5	Mitochondrial complex 1 deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
FLRT3	Hypogonadotropic hypogonadism 21 with anosmia, Autosomal dominant
BFSP1	Cataract 33
DYT17	Dystonia-17, primary torsion, Autosomal recessive
MGME1	Mitochondrial DNA depletion syndrome 11, Autosomal recessive
OVOL2	Corneal dystrophy, posterior polymorphous, 1, Autosomal dominant
SEC23B	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis, Autosomal recessive
KIZ	Retinitis pigmentosa 69, Autosomal recessive
THBD	Thrombophilia due to thrombomodulin defect
CST3	Cerebral amyloid angiopathy, Autosomal dominant
VSX1	Keratoconus 1, Autosomal dominant
ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, Autosomal recessive
CLA3	Spinocerebellar ataxia, autosomal recessive 6, Autosomal recessive
COX4I2	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, Autosomal recessive
MYLK2	Cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant
POFUT1	Dowling-Degos disease 2, Autosomal dominant
ASXL1	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive
SUN5	Spermatogenic failure 16, Autosomal recessive
SNTA1	Long QT syndrome 12, Autosomal dominant
CHMP4B	Cataract 31, multiple types
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Autosomal recessive
ITCH	Autoimmune disease, multisystem, with facial dysmorphism, Autosomal recessive
GSS	Glutathione synthetase deficiency, Autosomal recessive;Hemolytic anemia due to glutathione synthetase deficiency, Autosomal recessive
GDF5	Brachydactyly, type A1, C, Autosomal recessive, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant;Brachydactyly, type C, Autosomal dominant;Chondrodysplasia, Grebe type, Autosomal recessive;Du Pan syndrome, Autosomal recessive;Multiple synostoses syndrome 2, Autosomal dominant;Symphalangism, proximal, 1B
SAMHD1	Aicardi-Goutieres syndrome 5, Autosomal recessive
GHRH	Gigantism due to GHRF hypersecretion (1)
SRC	Colon cancer, advanced, somatic
MAFB	Duane retraction syndrome 3, Autosomal dominant;Multicentric carpotarsal osteolysis syndrome, Autosomal dominant
TOP1	DNA topoisomerase I, camptothecin-resistant (3)
IFT52	Short-rib thoracic dysplasia 16 with or without polydactyly, Autosomal recessive
JPH2	Cardiomyopathy, hypertrophic, 17, Autosomal dominant
HNF4A	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant
ADA	Adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism;Severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism
STK4	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3, Autosomal recessive
CTSA	Galactosialidosis, Autosomal recessive
MMP9	Metaphyseal anadysplasia 2
SLC12A5	Epileptic encephalopathy, early infantile, 34, Autosomal recessive
CD40	Immunodeficiency with hyper-IgM, type 3, Autosomal recessive
ELMO2	Vascular malformation, primary intraosseous, Autosomal recessive
SLC2A10	Arterial tortuosity syndrome, Autosomal recessive
ARFGEF2	Periventricular heterotopia with microcephaly, Autosomal recessive
KCNB1	Epileptic encephalopathy, early infantile, 26, Autosomal dominant
PTGIS	Hypertension, essential, Multifactorial
ADNP	Helsmoortel-van der Aa syndrome, Autosomal dominant
DPM1	Congenital disorder of glycosylation, type Ie, Autosomal recessive
DFNB65	Deafness, autosomal recessive 65, Autosomal recessive
SALL4	Duane-radial ray syndrome, Autosomal dominant;IVIC syndrome, Autosomal dominant
CYP24A1	Hypercalcemia, infantile, 1, Autosomal recessive
VAPB	Amyotrophic lateral sclerosis 8, Autosomal dominant;Spinal muscular atrophy, late-onset, Finkel type, Autosomal dominant
STX16	Pseudohypoparathyroidism, type IB, Autosomal dominant
GNAS-AS1	Pseudohypoparathyroidism, type IB, Autosomal dominant
GNAS	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant
EDN3	Central hypoventilation syndrome, congenital, Autosomal dominant;Waardenburg syndrome, type 4B, Autosomal recessive, Autosomal dominant
OSBPL2	Deafness, autosomal dominant 67, Autosomal dominant
COL9A3	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant
SLC17A9	Porokeratosis 8, disseminated superficial actinic type, Autosomal dominant
CHRNA4	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant
KCNQ2	Epileptic encephalopathy, early infantile, 7, Autosomal dominant;Myokymia, Autosomal dominant;Seizures, benign neonatal, 1, Autosomal dominant
EEF1A2	Epileptic encephalopathy, early infantile, 33, Autosomal dominant;Mental retardation, autosomal dominant 38, Autosomal dominant
RTEL1	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant
DNAJC5	Ceroid lipofuscinosis, neuronal, 4, Parry type, Autosomal dominant
PRPF6	Retinitis pigmentosa 60, Autosomal dominant
SOX18	Hypotrichosis-lymphedema-telangiectasia syndrome, Autosomal recessive;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Autosomal dominant
USH1E	Usher syndrome, type 1E, Autosomal recessive
TMPRSS15	Enterokinase deficiency, Autosomal recessive
APP	Alzheimer disease 1, familial, Autosomal dominant;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, Autosomal dominant
FEB7	Febrile seizures, familial, 7
SOD1	Amyotrophic lateral sclerosis 1, Autosomal recessive, Autosomal dominant
MRAP	Glucocorticoid deficiency 2, Autosomal recessive
C21orf59	Ciliary dyskinesia, primary, 26, Autosomal recessive
SYNJ1	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive
IL10RB	Inflammatory bowel disease 25, early onset, autosomal recessive, Autosomal recessive
IFNGR2	Immunodeficiency 28, mycobacteriosis, Autosomal recessive
SON	ZTTK syndrome, Autosomal dominant
KCNE2	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant
KCNE1	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant
RUNX1	Leukemia, acute myeloid, Autosomal dominant;Platelet disorder, familial, with associated myeloid malignancy, Autosomal dominant
CLDN14	Deafness, autosomal recessive 29, Autosomal recessive
HLCS	Holocarboxylase synthetase deficiency, Autosomal recessive
DYRK1A	Mental retardation, autosomal dominant 7, Autosomal dominant
KCNJ6	Keppen-Lubinsky syndrome, Autosomal dominant
HPE1	Holoprosencephaly 1, Autosomal dominant, Isolated cases
RIPK4	Popliteal pterygium syndrome, Bartsocas-Papas type, Autosomal recessive
TMPRSS3	Deafness, autosomal recessive 8/10, Autosomal recessive
RSPH1	Ciliary dyskinesia, primary, 24, Autosomal recessive
CBS	Homocystinuria, B6-responsive and nonresponsive types, Autosomal recessive;Thrombosis, hyperhomocysteinemic, Autosomal recessive
CRYAA	Cataract 9, multiple types, Autosomal dominant
SIK1	Epileptic encephalopathy, early infantile, 30, Autosomal dominant
CSTB	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), Autosomal recessive
AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant
PFKL	Hemolytic anemia due to phosphofructokinase deficiency (1)
TSPEAR	Deafness, autosomal recessive 98, Autosomal recessive
ITGB2	Leukocyte adhesion deficiency, Autosomal recessive
COL18A1	Knobloch syndrome, type 1, Autosomal recessive
COL6A1	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant
COL6A2	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant
FTCD	Glutamate formiminotransferase deficiency, Autosomal recessive
LSS	Cataract 44, Autosomal recessive
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive
IL17RA	Immunodeficiency 51, Autosomal recessive
ADA2	Polyarteritis nodosa, childhood-onset, Autosomal recessive
DFNB40	Deafness, autosomal recessive 40, Autosomal recessive
PEX26	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive
TUBA8	Polymicrogyria with optic nerve hypoplasia, Autosomal recessive
PRODH	Hyperprolinemia, type I, Autosomal recessive
SLC25A1	Combined D-2- and L-2-hydroxyglutaric aciduria, Autosomal recessive
CDC45	Meier-Gorlin syndrome 7, Autosomal recessive
GP1BB	Bernard-Soulier syndrome, type B, Autosomal recessive;Giant platelet disorder, isolated, Autosomal recessive
TBX1	Conotruncal anomaly face syndrome;DiGeorge syndrome, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Velocardiofacial syndrome, Autosomal dominant
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, Autosomal recessive
SCARF2	Van den Ende-Gupta syndrome, Autosomal recessive
PI4KA	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive
SERPIND1	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, Autosomal recessive
LZTR1	Noonan syndrome 10, Autosomal dominant
BCR	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic
IGLL1	Agammaglobulinemia 2, Autosomal recessive
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant;Spinal muscular atrophy, Jokela type, Autosomal dominant
SMARCB1	Coffin-Siris syndrome 3, Autosomal dominant;Rhabdoid tumors, somatic
SPECC1L	Opitz GBBB syndrome, type II, Autosomal dominant
UPB1	Beta-ureidopropionase deficiency, Autosomal recessive
CRYBB3	Cataract 22, Autosomal recessive, Autosomal dominant
CRYBB2	Cataract 3, multiple types
OPA5	Optic atrophy 5, Autosomal dominant
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive
HPS4	Hermansky-Pudlak syndrome 4
CRYBB1	Cataract 17, multiple types
CRYBA4	Cataract 23
MN1	Meningioma, Autosomal dominant
CHEK2	Li-Fraumeni syndrome;Osteosarcoma, somatic
KREMEN1	Ectodermal dysplasia 13, hair/tooth type, Autosomal recessive
EWSR1	Ewing sarcoma;Neuroepithelioma
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant
NF2	Meningioma, NF2-related, somatic;Neurofibromatosis, type 2, Autosomal dominant;Schwannomatosis, Autosomal dominant
TCN2	Transcobalamin II deficiency, Autosomal recessive
MORC2	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant
DEPDC5	Epilepsy, familial focal, with variable foci 1, Autosomal dominant
SLC5A1	Glucose/galactose malabsorption, Autosomal recessive
FBXO7	Parkinson disease 15, autosomal recessive, Autosomal recessive
TIMP3	Sorsby fundus dystrophy, Autosomal dominant
LARGE1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive
HMOX1	Heme oxygenase-1 deficiency
MYH9	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5, Autosomal recessive
KCTD17	Dystonia 26, myoclonic, Autosomal dominant
TMPRSS6	Iron-refractory iron deficiency anemia, Autosomal recessive
RAC2	Neutrophil immunodeficiency syndrome
TRIOBP	Deafness, autosomal recessive 28, Autosomal recessive
SOX10	PCWH syndrome, Autosomal dominant;Waardenburg syndrome, type 2E, with or without neurologic involvement, Autosomal dominant;Waardenburg syndrome, type 4C, Autosomal dominant
PLA2G6	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive
PDGFB	Basal ganglia calcification, idiopathic, 5, Autosomal dominant;Dermatofibrosarcoma protuberans;Meningioma, SIS-related, Autosomal dominant
ADSL	Adenylosuccinase deficiency, Autosomal recessive
MKL1	Megakaryoblastic leukemia, acute (3)
XPNPEP3	Nephronophthisis-like nephropathy 1, Autosomal recessive
EP300	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant
ACO2	Infantile cerebellar-retinal degeneration, Autosomal recessive
TNFRSF13C	Immunodeficiency, common variable, 4, Autosomal recessive
NAGA	Kanzaki disease, Autosomal recessive;Schindler disease, type I, Autosomal recessive;Schindler disease, type III, Autosomal recessive
CYB5R3	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive
A4GALT	NOR polyagglutination syndrome
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, Autosomal dominant
ATXN10	Spinocerebellar ataxia 10, Autosomal dominant
TRMU	Liver failure, transient infantile, Autosomal recessive
ALG12	Congenital disorder of glycosylation, type Ig
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts, Autosomal recessive
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive
SBF1	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, Autosomal recessive;Myopia 6, Autosomal dominant
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), Autosomal recessive
CHKB	Muscular dystrophy, congenital, megaconial type, Autosomal recessive
ARSA	Metachromatic leukodystrophy, Autosomal recessive
SHANK3	Phelan-McDermid syndrome, Isolated cases
AGMX2	Agammaglobulinemia, X-linked 2, X-linked
AIC	Aicardi syndrome, X-linked dominant
EMWX	Episodic muscle weakness, X-linked
FGS3	FG syndrome 3
OASD	Ocular albinism with sensorineural deafness, X-linked
SHOX	Langer mesomelic dysplasia, Autosomal recessive;Leri-Weill dyschondrosteosis, Autosomal dominant;Short stature, idiopathic familial
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4
ARSE	Chondrodysplasia punctata, X-linked recessive, X-linked recessive
NLGN4X	Mental retardation, X-linked, Isolated cases, X-linked, Multifactorial
STS	Ichthyosis, X-linked, X-linked recessive
ANOS1	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked
CMTX2	Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive
FCP1	Fetal hemoglobin quantitative trait locus 3, X-linked
MRX73	Mental retardation, X-linked 73, X-linked recessive
GPR143	Nystagmus 6, congenital, X-linked;Ocular albinism, type I, Nettleship-Falls type, X-linked
CLCN4	Mental retardation, X-linked 49/15, X-linked recessive
MID1	Opitz GBBB syndrome, type I, X-linked recessive
HCCS	Linear skin defects with multiple congenital anomalies 1, X-linked dominant
AMELX	Amelogenesis imperfecta, type 1E, X-linked dominant
FRMPD4	Mental retardation, X-linked 104, X-linked recessive
TRAPPC2	Spondyloepiphyseal dysplasia tarda, X-linked recessive
OFD1	Joubert syndrome 10, X-linked recessive;Orofaciodigital syndrome I, X-linked dominant;Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive
FANCB	Fanconi anemia, complementation group B
PIGA	Multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive;Paroxysmal nocturnal hemoglobinuria, somatic
AP1S2	Mental retardation, X-linked syndromic 5, X-linked recessive
NHS	Cataract 40, X-linked, X-linked;Nance-Horan syndrome, X-linked dominant
MEHMO	MEHMO syndrome
CDKL5	Epileptic encephalopathy, early infantile, 2, X-linked dominant
RS1	Retinoschisis, X-linked dominant
PHKA2	Glycogen storage disease, type IXa1, X-linked recessive;Glycogen storage disease, type IXa2, X-linked recessive
ADGRG2	Vas deferens, congenital bilateral aplasia of, X-linked, X-linked
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, X-linked dominant
RPS6KA3	Coffin-Lowry syndrome, X-linked dominant, Isolated cases;Mental retardation, X-linked 19, X-linked dominant
SMPX	Deafness, X-linked 4, X-linked dominant
MBTPS2	IFAP syndrome with or without BRESHECK syndrome, X-linked recessive;Keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive
SMS	Mental retardation, X-linked, Snyder-Robinson type, X-linked recessive
PHEX	Hypophosphatemic rickets, X-linked dominant, X-linked dominant
KLHL15	Mental retardation, X-linked 103, X-linked recessive
EIF2S3	Mental retardation, X-linked, syndromic, Borck type, X-linked recessive
POLA1	Pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive
ARX	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked
IL1RAPL1	Mental retardation, X-linked 21/34, X-linked recessive
DFNX3	Deafness, X-linked 3, X-linked
NR0B1	Adrenal hypoplasia, congenital, X-linked recessive;46XY sex reversal 2, dosage-sensitive, X-linked
GK	Glycerol kinase deficiency, X-linked recessive
DMD	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive
XK	McLeod syndrome with or without chronic granulomatous disease, X-linked
CYBB	Chronic granulomatous disease, X-linked, X-linked recessive;Immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive
MRX20	Mental retardation, X-linked 20, X-linked
OPA2	Optic atrophy 2, X-linked, X-linked
PRS	Prieto syndrome, X-linked recessive
RPGR	Cone-rod dystrophy, X-linked, 1, X-linked;Macular degeneration, X-linked atrophic, X-linked recessive;Retinitis pigmentosa 3;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
OTC	Ornithine transcarbamylase deficiency, X-linked recessive
TSPAN7	Mental retardation, X-linked 58, X-linked recessive
BCOR	Microphthalmia, syndromic 2, X-linked dominant
ATP6AP2	Mental retardation, X-linked, syndromic, Hedera type, X-linked recessive
USP9X	Mental retardation, X-linked 99, X-linked recessive;Mental retardation, X-linked 99, syndromic, female-restricted, X-linked dominant
DDX3X	Mental retardation, X-linked 102, X-linked recessive, X-linked dominant
NYX	Night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive
CASK	FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant;Mental retardation, with or without nystagmus
MRX14	Mental retardation, X-linked 14, X-linked
MRX50	Mental retardation, X-linked 50, X-linked
MRX84	Mental retardation, X-linked 84, X-linked recessive
MRXS7	Mental retardation, X-linked syndromic 7
MAOA	Brunner syndrome, X-linked recessive
NDP	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive
KDM6A	Kabuki syndrome 2, X-linked dominant
RP2	Retinitis pigmentosa 2, X-linked
NDUFB11	Linear skin defects with multiple congenital anomalies 3, X-linked dominant
RBM10	TARP syndrome, X-linked recessive
UBA1	Spinal muscular atrophy, X-linked 2, infantile, X-linked recessive
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant
MRX81	Mental retardation, X-linked 81, X-linked recessive
CFP	Properdin deficiency, X-linked, X-linked recessive
FTSJ1	Mental retardation, X-linked 9/44, X-linked recessive
PORCN	Focal dermal hypoplasia, X-linked dominant
EBP	Chondrodysplasia punctata, X-linked dominant, X-linked dominant;MEND syndrome, X-linked recessive
WAS	Neutropenia, severe congenital, X-linked, X-linked recessive;Thrombocytopenia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, intermittent, X-linked recessive;Wiskott-Aldrich syndrome, X-linked recessive
GATA1	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive;Leukemia, megakaryoblastic, with or without Down syndrome, somatic;Thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive
PQBP1	Renpenning syndrome, X-linked recessive
SLC35A2	Congenital disorder of glycosylation, type IIm, X-linked dominant, Somatic mosaicism
TFE3	Renal cell carcinoma, papillary, 1
WDR45	Neurodegeneration with brain iron accumulation 5, X-linked dominant
SYP	Mental retardation, X-linked 96, X-linked dominant
CACNA1F	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked
CCDC22	Ritscher-Schinzel syndrome 2, X-linked recessive
FOXP3	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive
USP27X	Mental retardation 105, X-linked recessive
CLCN5	Dent disease, X-linked recessive;Hypophosphatemic rickets, X-linked recessive;Nephrolithiasis, type I, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive
BMP15	Ovarian dysgenesis 2;Premature ovarian failure 4
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type, X-linked recessive
IQSEC2	Mental retardation, X-linked 1/78, X-linked dominant
SMC1A	Cornelia de Lange syndrome 2, X-linked dominant
HSD17B10	17-beta-hydroxysteroid dehydrogenase X deficiency, X-linked dominant
HUWE1	Mental retardation, X-linked syndromic, Turner type
PHF8	Mental retardation syndrome, X-linked, Siderius type, X-linked recessive
FGD1	Aarskog-Scott syndrome, X-linked recessive;Mental retardation, X-linked syndromic 16, X-linked recessive
ATRX	Mental retardation, X-linked 52, X-linked recessive
MAGED2	Bartter syndrome, type 5, antenatal, transient, X-linked recessive
ALAS2	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant
UBQLN2	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant
ARHGEF9	Epileptic encephalopathy, early infantile, 8, X-linked recessive
SPG16	Spastic paraplegia 16, X-linked, complicated, X-linked recessive
AMER1	Osteopathia striata with cranial sclerosis, X-linked dominant
ZC4H2	Wieacker-Wolff syndrome, X-linked recessive
MRX77	Mental retardation, X-linked 77, X-linked recessive
LAS1L	Wilson-Turner syndrome, X-linked recessive
MSN	Immunodeficiency 50, X-linked recessive
AR	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive
OPHN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, X-linked recessive
EFNB1	Craniofrontonasal dysplasia, X-linked dominant
EDA	Ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive;Tooth agenesis, selective, X-linked 1, X-linked dominant
IGBP1	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, X-linked recessive
DLG3	Mental retardation, X-linked 90, X-linked recessive
TEX11	Spermatogenic failure, X-linked, 2, X-linked recessive
IL2RG	Combined immunodeficiency, X-linked, moderate, X-linked recessive;Severe combined immunodeficiency, X-linked, X-linked recessive
MED12	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive
GJB1	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant
NONO	Mental retardation, X-linked, syndromic 34, X-linked
TAF1	Dystonia-Parkinsonism, X-linked, X-linked recessive;Mental retardation, X-linked, syndromic 33, X-linked recessive
HDAC8	Cornelia de Lange syndrome 5, X-linked dominant
PHKA1	Muscle glycogenosis, X-linked recessive
XIST	X-inactivation, familial skewed
SLC16A2	Allan-Herndon-Dudley syndrome, X-linked dominant
RLIM	Mental retardation, X-linked 61, X-linked recessive
KIAA2022	Mental retardation, X-linked 98, X-linked recessive
ABCB7	Anemia, sideroblastic, with ataxia, X-linked recessive
FGF16	Metacarpal 4-5 fusion, X-linked recessive
ATRX	Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome, X-linked dominant;Mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive
MAGT1	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
COX7B	Linear skin defects with multiple congenital anomalies 2, X-linked dominant
ATP7A	Menkes disease, X-linked recessive;Occipital horn syndrome, X-linked recessive;Spinal muscular atrophy, distal, X-linked 3, X-linked recessive
PGK1	Phosphoglycerate kinase 1 deficiency, X-linked recessive
TBX22	Cleft palate with ankyloglossia, X-linked
BRWD3	Mental retardation, X-linked 93, X-linked recessive
POU3F4	Deafness, X-linked 2, X-linked recessive
ZNF711	Mental retardation, X-linked 97, X-linked
POF1B	Premature ovarian failure 2B
CHM	Choroideremia, X-linked dominant
DIAPH2	Premature ovarian failure
PCDH19	Epileptic encephalopathy, early infantile, 9, X-linked
TIMM8A	Mohr-Tranebjaerg syndrome, X-linked recessive
BTK	Agammaglobulinemia and isolated hormone deficiency, X-linked recessive;Agammaglobulinemia, X-linked 1, X-linked recessive
GLA	Fabry disease, X-linked;Fabry disease, cardiac variant, X-linked
HNRNPH2	Mental retardation, X-linked, syndromic, Bain type, X-linked dominant
MRX53	Mental retardation, X-linked 53, X-linked recessive
PLP1	Pelizaeus-Merzbacher disease, X-linked recessive;Spastic paraplegia 2, X-linked, X-linked recessive
FGS5	FG syndrome 5
PIH1D3	Ciliary dyskinesia, primary, 36, X-linked, X-linked recessive
PRPS1	Arts syndrome, X-linked recessive;Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive;Deafness, X-linked 1, X-linked;Gout, PRPS-related, X-linked recessive;Phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive
COL4A5	Alport syndrome, X-linked dominant
MRX23	Mental retardation, X-linked 23, X-linked
MYP13	Myopia 13
ACSL4	Mental retardation, X-linked 63, X-linked dominant
AMMECR1	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive
CHRDL1	Megalocornea 1, X-linked, X-linked recessive
PAK3	Mental retardation, X-linked 30/47, X-linked recessive
DCX	Lissencephaly, X-linked, X-linked;Subcortical laminal heteropia, X-linked, X-linked
ALG13	Epileptic encephalopathy, early infantile, 36, X-linked dominant
PLS3	Bone mineral density QTL18, osteoporosis, X-linked dominant
ADFN	Albinism-deafness syndrome, X-linked
MRX82	Mental retardation, X-linked 82, X-linked recessive
SPG34	Spastic paraplegia 34, X-linked, X-linked recessive
UBE2A	Mental retardation, X-linked syndromic, Nascimento-type, X-linked recessive
UPF3B	Mental retardation, X-linked, syndromic 14, X-linked recessive
NDUFA1	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial
LAMP2	Danon disease, X-linked dominant
CUL4B	Mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive
C1GALT1C1	Tn polyagglutination syndrome, somatic
THAS	Thoracoabdominal syndrome, X-linked
GRIA3	Mental retardation, X-linked 94, X-linked recessive
THOC2	Mental retardation, X-linked 12/35, X-linked recessive
XIAP	Lymphoproliferative syndrome, X-linked, 2
SH2D1A	Lymphoproliferative syndrome, X-linked, 1, X-linked recessive
CMTX3	Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive
HPT	Hypoparathyroidism, X-linked, X-linked
MRX42	Mental retardation, X-linked 42
RP24	Retinitis pigmentosa 24
SHFM2	Split hand/foot malformation 2, X-linked
OCRL	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type
AIFM1	Combined oxidative phosphorylation deficiency 6, X-linked recessive;Cowchock syndrome, X-linked recessive;Deafness, X-linked 5, X-linked recessive
IGSF1	Hypothyroidism, central, and testicular enlargement, X-linked recessive
FRMD7	Nystagmus 1, congenital, X-linked, X-linked;Nystagmus, infantile periodic alternating, X-linked, X-linked
GPC3	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic
PHF6	Borjeson-Forssman-Lehmann syndrome, X-linked recessive
HPRT1	HPRT-related gout, X-linked recessive;Lesch-Nyhan syndrome, X-linked recessive
SLC9A6	Mental retardation, X-linked syndromic, Christianson type, X-linked dominant
FHL1	Emery-Dreifuss muscular dystrophy 6, X-linked, X-linked recessive;Myopathy, X-linked, with postural muscle atrophy, X-linked recessive;Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, X-linked;Scapuloperoneal myopathy, X-linked dominant, X-linked dominant
CD40LG	Immunodeficiency, X-linked, with hyper-IgM, X-linked recessive
ARHGEF6	Mental retardation, X-linked 46, X-linked recessive
GPR101	Pituitary adenoma, growth hormone-secreting 2
ZIC3	Congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive;Heterotaxy, visceral, 1, X-linked, X-linked recessive;VACTERL association, X-linked, X-linked recessive
COD2	Cone dystrophy, progressive X-linked, 2, X-linked
TGCT1	Testicular germ cell tumor
F9	Hemophilia B, X-linked recessive;Thrombophilia, X-linked, due to factor IX defect
SOX3	Mental retardation, X-linked, with isolated growth hormone deficiency;Panhypopituitarism, X-linked, X-linked
FMR1	Fragile X syndrome, X-linked dominant;Fragile X tremor/ataxia syndrome, X-linked dominant;Premature ovarian failure 1, X-linked
MRSD	Mental retardation-skeletal dysplasia, X-linked
MYP1	Myopia-1, X-linked recessive
RP34	Retinitis pigmentosa 34
TKCR	Goeminne TKCR syndrome, X-linked
AFF2	Mental retardation, X-linked, FRAXE type, X-linked recessive
IDS	Mucopolysaccharidosis II, X-linked recessive
MAMLD1	Hypospadias 2, X-linked, X-linked recessive
MTM1	Myotubular myopathy, X-linked, X-linked recessive
VMA21	Myopathy, X-linked, with excessive autophagy, X-linked recessive
NSDHL	CHILD syndrome, X-linked dominant;CK syndrome, X-linked recessive
BGN	Meester-Loeys syndrome, X-linked;Spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive
FAM58A	STAR syndrome, X-linked dominant
SLC6A8	Cerebral creatine deficiency syndrome 1, X-linked recessive
BCAP31	Deafness, dystonia, and cerebral hypomyelination, X-linked recessive
ABCD1	Adrenoleukodystrophy, X-linked recessive;Adrenomyeloneuropathy, adult, X-linked recessive
SSR4	Congenital disorder of glycosylation, type Iy, X-linked recessive
L1CAM	CRASH syndrome, X-linked recessive;Corpus callosum, partial agenesis of, X-linked recessive;Hydrocephalus due to aqueductal stenosis, X-linked recessive;Hydrocephalus with Hirschsprung disease, X-linked recessive;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive;MASA syndrome, X-linked recessive
AVPR2	Diabetes insipidus, nephrogenic, X-linked recessive;Nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive
NAA10	Ogden syndrome, X-linked recessive, X-linked dominant
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), X-linked recessive
MECP2	Encephalopathy, neonatal severe, X-linked recessive;Mental retardation, X-linked syndromic, Lubs type, X-linked recessive;Mental retardation, X-linked, syndromic 13, X-linked recessive;Rett syndrome, X-linked dominant;Rett syndrome, atypical, X-linked dominant;Rett syndrome, preserved speech variant, X-linked dominant
OPN1LW	Blue cone monochromacy, X-linked recessive;Colorblindness, protan, X-linked
OPN1MW	Blue cone monochromacy, X-linked recessive;Colorblindness, deutan, X-linked
FLNA	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia
EMD	Emery-Dreifuss muscular dystrophy 1, X-linked, X-linked recessive
TAZ	Barth syndrome, X-linked recessive
ATP6AP1	Immunodeficiency 47, X-linked recessive
GDI1	Mental retardation, X-linked 41, X-linked dominant
G6PD	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive
IKBKG	Ectodermal dysplasia, hypohidrotic, with immune deficiency;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency;Immunodeficiency 33, X-linked recessive;Immunodeficiency, isolated;Incontinentia pigmenti, X-linked dominant;Invasive pneumococcal disease, recurrent isolated, 2
DKC1	Dyskeratosis congenita, X-linked, X-linked recessive
F8	Hemophilia A, X-linked recessive
RAB39B	Mental retardation, X-linked 72, X-linked recessive
SHOX	Langer mesomelic dysplasia, Autosomal recessive;Leri-Weill dyschondrosteosis, Autosomal dominant;Short stature, idiopathic familial
SRY	46XX sex reversal 1;46XY sex reversal 1
USP9Y	Spermatogenic failure, Y-linked, 2, Y-linked
DFNY1	Deafness, Y-linked 1 (1)