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{"sheet":"Sheet1","index":0,"n_rows":4648,"n_cols":2,"rows_kept":4648,"cut":false,"hidden":false,"merged":[]}
["Gene","Condition"]
["A2ML1","Noonan-Like 1"]
["A4GALT","P1PK system"]
["AAAS","Glucocorticoid deficiency with achalasia"]
["AAGAB","Keratoderma, palmoplantar, punctate type IA"]
["AARS","Charcot-Marie-Tooth disease, axonal, type 2N"]
["AARS","Epileptic encephalopathy, early infantile, 29"]
["AARS2","Combined oxidative phosphorylation deficiency 8"]
["AARS2","Leukoencephalopathy, progressive, with ovarian failure"]
["AASS","Hyperlysinemia"]
["ABAT","GABA transaminase deficiency"]
["ABCA1","Tangier disease"]
["ABCA12","Ichthyosis, congenital, autosomal recessive 4"]
["ABCA3","Surfactant metabolism dysfunction, pulmonary, 3"]
["ABCA4","Cone-rod dystrophy 3"]
["ABCA4","Macular degeneration, age-related, 2"]
["ABCA4","Retinitis pigmentosa 19"]
["ABCA4","Stargardt disease 1"]
["ABCB11","Cholestasis, progressive familial intrahepatic 2"]
["ABCB4","Cholestasis, progressive familial intrahepatic 3"]
["ABCB6","Blood group, Langereis system"]
["ABCB6","Microphthalmia, isolated, with coloboma 7"]
["ABCB7","Anemia, sideroblastic, with ataxia"]
["ABCC2","Dubin-Johnson syndrome"]
["ABCC6","Pseudoxanthoma elasticum"]
["ABCC8","Diabetes mellitus, transient neonatal, 2"]
["ABCC8","Hyperinsulinemic hypoglycemia, familial, 1"]
["ABCC9","Atrial fibrillation, familial, 12"]
["ABCC9","Cardiomyopathy, dilated, 1O"]
["ABCD1","Adrenoleukodystrophy"]
["ABCD1","Adrenomyeloneuropathy, adult"]
["ABCD3","Bile acid synthesis defect, congenital, 5"]
["ABCD4","Methylmalonic aciduria and homocystinuria, cblJ type"]
["ABCG2","Junior antigen"]
["ABCG5","Thrombocytopenia with sitosterolaemia 1"]
["ABCG8","Thrombocytopenia with sitosterolaemia 2"]
["ABHD12","Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"]
["ABHD5","Chanarin-Dorfman syndrome"]
["ABL1","congenital heart defects and skeletal malformations"]
["ABO","ABO group"]
["ACACA","Acetyl-CoA carboxylase deficiency 1"]
["ACACB","Acetyl-CoA carboxylase deficiency 2"]
["ACAD8","Isobutyryl-CoA dehydrogenase deficiency "]
["ACAD9","Mitochondrial complex I deficiency due to ACAD9 deficiency"]
["ACADL","ACADL deficiency"]
["ACADM","Acyl-CoA dehydrogenase, medium chain, deficiency of"]
["ACADM","MCAD deficiency"]
["ACADS","Acyl-CoA dehydrogenase, short-chain, deficiency of"]
["ACADSB","2-methylbutyrylglycinuria"]
["ACADVL","VLCAD deficiency"]
["ACAN","Spondyloepimetaphyseal dysplasia"]
["ACAN","Short stature, idiopathic familial_ACAN"]
["ACAT1","Alpha-methylacetoacetic aciduria"]
["ACAT2","ACAT2 deficiency"]
["ACBD5","Syndromic retinal disease_ACBD5"]
["ACD","Dyskeratosis congenita, autosomal recessive 7, autosomal dominant 6"]
["ACE","Renal tubular dysgenesis 1"]
["ACHE","Yt antigen"]
["ACO2","Infantile cerebellar-retinal degeneration"]
["ACO2","Optic atrophy 9"]
["ACOX1","Peroxisomal acyl-CoA oxidase deficiency"]
["ACOX2","BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6"]
["ACP2","Lysosomal acid phosphatase deficiency"]
["ACP5","Spondyloenchondrodysplasia with immune dysregulation"]
["ACPT","Hypoplastic Amelogenesis Imperfecta"]
["ACR","Male infertility due to acrosin deficiency"]
["ACSF3","Combined malonic and methylmalonic aciduria"]
["ACSL4","Mental retardation, X-linked 63"]
["ACTA1","Myopathy, congenital, with fiber-type disproportion 1"]
["ACTA1","Nemaline myopathy 3, autosomal dominant or recessive"]
["ACTA2","Aortic aneurysm, familial thoracic 6"]
["ACTA2","Moyamoya disease 5"]
["ACTB","Baraitser-Winter syndrome 1"]
["ACTB","Dystonia, juvenile-onset"]
["ACTC1","Atrial septal defect 5"]
["ACTC1","Cardiomyopathy, dilated, 1R"]
["ACTC1","Cardiomyopathy, familial hypertrophic, 11"]
["ACTC1","Left ventricular noncompaction 4"]
["ACTG1","Baraitser-Winter syndrome 2"]
["ACTG1","Deafness, autosomal dominant 20/26"]
["ACTG2","Visceral myopathy"]
["ACTN1","Bleeding disorder, platelet-type, 15"]
["ACTN2","Cardiomyopathy, dilated, 1AA"]
["ACTN2","Cardiomyopathy, familial hypertrophic, 23"]
["ACTN4","Glomerulosclerosis, focal segmental, 1"]
["ACVR1","Fibrodysplasia ossificans progressiva"]
["ACVR2B","Heterotaxy, visceral, 4, autosomal"]
["ACVRL1","Telangiectasia, hereditary hemorrhagic, type 2"]
["ACY1","Aminoacylase 1 deficiency"]
["ADA","Severe combined immunodeficiency due to ADA deficiency"]
["ADAM10","Reticulate acropigmentation of Kitamura"]
["ADAM17","Inflammatory skin and bowel disease, neonatal"]
["ADAM22","Epileptic encephalopathy, early infantile, 61"]
["ADAM9","Cone-rod dystrophy 9"]
["ADAMTS10","Weill-Marchesani syndrome 1"]
["ADAMTS10","Weill-Marchesani syndrome 1, recessive"]
["ADAMTS13","Thrombotic thrombocytopenic purpura, familial"]
["ADAMTS17","Weill-Marchesani-like syndrome"]
["ADAMTS18","Microcornea, myopic chorioretinal atrophy, and telecanthus"]
["ADAMTS2","Ehlers-Danlos Syndrome Type VIIC"]
["ADAMTS2","Ehlers-Danlos syndrome, type VIIC"]
["ADAMTSL2","Geleophysic dysplasia 1"]
["ADAMTSL4","Ectopia lentis et pupillae"]
["ADAR","Aicardi-goutieres syndrome 6"]
["ADAT3","Mental retardation, autosomal recessive 36"]
["ADCK3","Coenzyme Q10 deficiency, primary, 4"]
["ADCK3","Spinocerebellar ataxia, autosomal recessive 9"]
["ADCK4","Nephrotic syndrome, type 9"]
["ADCY1","Deafness, autosomal recessive 44"]
["ADCY10","Hypercalciuria, absorptive, susceptibility to"]
["ADCY3","Monogenic severe obesity"]
["ADCY5","Dyskinesia, familial, with facial myokymia"]
["ADCY6","Lethal congenital contracture syndrome 8"]
["ADD3","Cerebral palsy, spastic quadriplegic, 3"]
["ADK","Hypermethioninemia due to adenosine kinase deficiency"]
["ADNP","Mental retardation, autosomal dominant 28 /HELSMOORTEL-VAN DER AA SYNDROME"]
["ADRA2B","Epilepsy, myoclonic, familial adult, 2"]
["ADRBK2","Warts, hypogammaglobulinemia, infections, and myelokathexis 1"]
["ADSL","Adenylosuccinase deficiency"]
["ADSSL1","Myopathy, distal, 5"]
["AEBP1","Ehlers-Danlos syndrome classic-like-2"]
["AFF4","CHOPS syndrome"]
["AFG3L2","Spastic ataxia 5, autosomal recessive"]
["AFG3L2","Spinocerebellar ataxia 28"]
["AFG3L2","Progressive Micocephaly early onset seizure, spasticity, and basal ganglia involvement"]
["AGA","Aspartylglycosaminuria"]
["AGBL1","Corneal dystrophy, Fuchs endothelial, 8"]
["AGBL5","Retinitis pigmentosa 75"]
["AGK","Cataract 38, autosomal recessive"]
["AGK","Mitochondrial DNA depletion syndrome 10"]
["AGK","Sengers syndrome with hypertrophic cardiomyopathy"]
["AGL","Glycogen storage disease IIIa, IIIb"]
["AGPAT2","Lipodystrophy, congenital generalized, type 1"]
["AGPS","Chondrodysplasia punctata, rhizomelic, type 3"]
["AGRN","Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects"]
["AGT","Renal tubular dysgenesis 2"]
["AGTR1","Renal tubular dysgenesis 3"]
["AGTR2","Mental retardation, X-linked 88"]
["AGXT","Hyperoxaluria, primary, type 1"]
["AGXT","Hyperoxaluria, primary, type I"]
["AHCY","Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"]
["AHDC1","Mental retardation, autosomal dominant 25 / XIA-GIBBS"]
["AHI1","Joubert syndrome 3"]
["AICDA","Immunodeficiency with hyper IgM, type 2"]
["AIFM1","Charcot-Marie-Tooth disease, X-linked dominant, 4(Cowchock)"]
["AIFM1","Combined oxidative phosphorylation deficiency 6"]
["AIFM1","Deafness, X-linked 5"]
["AIFM1","X-linked childhood cerebellar ataxia"]
["AIMP1","Leukodystrophy, hypomyelinating 3"]
["AIPL1","Cone-rod dystrophy_AIPL1"]
["AIPL1","Leber congenital amaurosis 4"]
["AIPL1","Retinitis pigmentosa, juvenile_AIPL1"]
["AIRE","Autoimmune polyendocrinopathy syndrome type I"]
["AK1","Hemolytic anemia due to adenylate kinase deficiency"]
["AK2","Reticular dysgenesis"]
["AK7","Spermatogenic failure 27"]
["AKAP9","Long QT syndrome 11"]
["AKR1C2","46XY sex reversal 8"]
["AKR1D1","Bile acid synthesis defect, congenital, 2"]
["AKT1","Cowden syndrome 6"]
["AKT1","Hemangioma"]
["AKT2","Hypoinsulinemic hypoglycemia and hemihypertrophy"]
["AKT2","Hypoinsulinemic hypoglycemia with hemihypertrophy"]
["AKT3","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2"]
["ALAD","Porphyria, acute hepatic"]
["ALAS2","Hereditary sideroblastic anemia"]
["ALAS2","Protoporphyria, erythropoietic, X-linked"]
["ALDH18A1","Cutis laxa-corneal clouding-oligophrenia syndrome"]
["ALDH18A1","Cutis laxa, autosomal dominant 3"]
["ALDH18A1","Cutis laxa, autosomal recessive, type IIIA"]
["ALDH18A1","Spastic paraplegia 9A, autosomal dominant"]
["ALDH18A1","Spastic paraplegia 9B, autosomal recessive"]
["ALDH1A3","Microphthalmia, isolated 8"]
["ALDH3A2","Sjögren-Larsson syndrome"]
["ALDH4A1","Hyperprolinemia, type II"]
["ALDH5A1","Succinic semialdehyde dehydrogenase deficiency"]
["ALDH6A1","Methylmalonate semialdehyde dehydrogenase deficiency"]
["ALDH7A1","Epilepsy, pyridoxine-dependent"]
["ALDOA","Glycogen storage disease XII"]
["ALDOB","Fructose intolerance"]
["ALG1","Congenital disorder of glycosylation, type Ik"]
["ALG11","Congenital disorder of glycosylation, type Ip"]
["ALG12","Congenital disorder of glycosylation, type Ig"]
["ALG13","Congenital disorder of glycosylation, type Is"]
["ALG13","Epileptic encephalopathy, early infantile, 36"]
["ALG14","Myasthenic syndrome, congenital, 15, without tubular aggregates"]
["ALG2","Congenital disorder of glycosylation, type Ii"]
["ALG2","Myasthenic syndrome, congenital, 14, with tubular aggregates"]
["ALG3","Congenital disorder of glycosylation, type Id"]
["ALG6","Congenital disorder of glycosylation, type Ic"]
["ALG8","Congenital disorder of glycosylation, type Ih"]
["ALG8","Polycystic liver disease 3"]
["ALG9","Congenital disorder of glycosylation, type Il"]
["ALK","Neuroblastoma, susceptibility to, 3"]
["ALMS1","Alstrom syndrome"]
["ALOX12B","Ichthyosis, congenital, autosomal recessive 2"]
["ALOXE3","Ichthyosis, congenital, autosomal recessive 3"]
["ALPK3","Cardiomyopathy, familial hypertrophic, 27"]
["ALPL","hypophosphotasia"]
["ALS2","Amyotrophic lateral sclerosis 2, juvenile"]
["ALX1","Frontonasal dysplasia 3"]
["ALX3","Frontonasal dysplasia 1"]
["ALX4","Frontonasal dysplasia 2"]
["AMACR","Alpha-methylacyl-CoA racemase deficiency"]
["AMACR","Bile acid synthesis defect, congenital, 4"]
["AMBN","Amelogenesis imperfecta, type IF"]
["AMELX","Amelogenesis Imperfecta, type IE"]
["AMER1","Osteopathia striata with cranial sclerosis"]
["AMH","Persisten mullerian duct syndrome, type I"]
["AMHR2","Persisten mullerian duct syndrome, type II"]
["AMMECR1","developmental delay, midface hypoplasia and elliptocytosis"]
["AMN","Megaloblastic anemia-1, Norwegian type"]
["AMPD1","Myopathy due to myoadenylate deaminase deficiency"]
["AMPD2","Pontocerebellar hypoplasia, type 9"]
["AMPD2","Spastic paraplegia 63, autosomal recessive"]
["AMT","Glycine encephalopathy_AMT"]
["ANG","Amyotrophic lateral sclerosis 9"]
["ANGPTL3","Hypobetalipoproteinemia, familial, 2"]
["ANK1","Spherocytosis, type 1"]
["ANK2","Cardiac arrhythmia, ankyrin-B-related"]
["ANK2","Long QT syndrome 4"]
["ANK3","Mental retardation, autosomal recessive 37"]
["ANKH","Chondrocalcinosis 2"]
["ANKLE2","Microcephaly 16, primary, autosomal recessive"]
["ANKRD1","Cardiomyopathy, familial hypertrophic_ANKRD1"]
["ANKRD11","KBG syndrome"]
["ANKRD26","Thrombocytopenia 2"]
["ANKS6","Nephronophthisis 16"]
["ANLN","Glomerulosclerosis, focal segmental, 8"]
["ANO10","Spinocerebellar ataxia, autosomal recessive 10"]
["ANO3","Dystonia 24"]
["ANO5","Muscular dystrophy, limb-girdle, type 2L"]
["ANO5","Myoshi myopathy 3"]
["ANO6","Scott syndrome"]
["ANTXR1","GAPO syndrome"]
["ANTXR2","Hyaline fibromatosis syndrome"]
["ANXA11","Amytrophic lateral sclerosis 23"]
["AP1S1","MEDNIK syndrome"]
["AP1S2","Mental retardation, X-linked syndromic 5"]
["AP2S1","Hypocalciuric hypercalcemia, type III"]
["AP3B1","Hermansky-Pudlak syndrome 2"]
["AP3B2","Early-Onset Epileptic Encephalopathy with Optic Atrophy"]
["AP3B2","Epileptic encephalopathy, early infantile, 48"]
["AP3D1","Hermansky-Pudlak syndrome 10"]
["AP4B1","Spastic paraplegia 47"]
["AP4E1","Spastic paraplegia 51"]
["AP4M1","Spastic paraplegia 50"]
["AP4S1","Spastic paraplegia 52"]
["AP5Z1","Spastic paraplegia 48"]
["APC","Familial adenomatous polyposis 1"]
["APC2","Sotos syndrome 3"]
["APCDD1","Hypotrichosis 1"]
["APOA1","Familial visceral amyloidosis"]
["APOA1BP","Lethal Neurometabolic Disorder of Early Childhood"]
["APOB","Hypobetalipoproteinemia"]
["APOC3","Apolipoprotein C-III deficiency"]
["APOE","Alzheimer disease-2"]
["APOL1","Glomerulosclerosis, focal segmental, 4, susceptibility to"]
["APOPT1","Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency"]
["APOPT1","Mitochondrial complex IV deficiency_APOPT1"]
["APP","Alzheimer disease 1, familial"]
["APP","Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants"]
["APPL1","Maturity-onset diabetes of the young, type 14"]
["APRT","APRT deficiency"]
["APTX","Ataxia with oculomotor apraxia 1"]
["AQP1","Colton group antigen, Blood group "]
["AQP2","Nephrogenic diabetes insipidous"]
["AQP3","GIL antigen"]
["AQP5","Diffuse palmoplantar keratoderma, Bothnian type"]
["AR","Androgen insensitivity"]
["ARCN1","Craniofacial Syndrome due to COPI-Mediated Transport Defects"]
["ARFGEF2","Periventricular heterotopia with microcephaly"]
["ARFGEF2","Periventricular nodular heterotopia 2"]
["ARG1","Arginemia"]
["ARG1","Argininemia"]
["ARHGAP24","Focal segmental glomerulosclerosis"]
["ARHGAP31","Adams-Oliver syndrome 1"]
["ARHGDIA","Nephrotic syndrome, type 8"]
["ARHGEF10","Slowed nerve conduction velocity, AD"]
["ARHGEF18","Retinitis pigmentosa 78"]
["ARHGEF28","Amyotrophic lateral sclerosis"]
["ARHGEF6","Mental retardation, X-linked 46"]
["ARHGEF9","Epileptic encephalopathy, early infantile, 8"]
["ARID1A","Coffin-Siris syndrome 2"]
["ARID1A","Mental retardation, autosomal dominant 14"]
["ARID1B","Coffin-Siris syndrome 1"]
["ARID1B","Mental retardation, autosomal dominant 12"]
["ARID2","Coffin-Siris syndrome 6"]
["ARL13B","Joubert syndrome 8"]
["ARL2BP","Retinitis pigmentosa with or without situs inversus"]
["ARL6","Bardet-Biedl syndrome 3"]
["ARL6","Retinitis pigmentosa 55"]
["ARL6IP1","Spastic paraplegia 61, autosomal recessive"]
["ARL6IP1","Neuropathy, hereditary sensory and autonomic, type II_ARL6IP1"]
["ARMC4","Ciliary dyskinesia, primary, 23"]
["ARMC5","ACTH-independent macronodular adrenal hyperplasia 2"]
["ARMS2","Macular degeneration, age-related, 8"]
["ARNT2","Webb-Dattani syndrome"]
["ARSA","Metachromatic leukodystrophy"]
["ARSB","Mucopolysaccharidosis type VI (Maroteaux-Lamy)"]
["ARSE","Chondrodysplasia punctata, X-linked recessive"]
["ARSI","Spastic paraplegia 66, autosomal recessive"]
["ART4","Dombrock antigen"]
["ARV1","Epileptic encephalopathy, early infantile, 38"]
["ARX","Epileptic encephalopathy, early infantile, 1"]
["ARX","Hydranencephaly with abnormal genitalia"]
["ARX","Lissencephaly, X-linked 2"]
["ARX","Mental retardation, X-linked 29 and others"]
["ARX","Partington syndrome"]
["ASAH1","Proximal SMA with myoclonic epilepsy"]
["ASB10","Glaucoma 1, open angle, F"]
["ASCC1","Spinal muscular atrophy with congenital bone fractures 2"]
["ASCL1","Haddad syndrome"]
["ASH1L","Mental retardation, autosomal dominant 52"]
["ASL","Argininosuccinic aciduria"]
["ASNS","Asparagine synthetase deficiency"]
["ASPA","Canavan disease"]
["ASPH","Traboulsi syndrome"]
["ASPM","Microcephaly 5, primary, autosomal recessive"]
["ASS1","Citrullinemia"]
["ASXL1","Bohring-Opitz syndrome"]
["ASXL2","Shashi-Pena syndrome"]
["ASXL3","Bainbridge-Ropers syndrome"]
["ATAD3A","Harel-Yoon syndrome"]
["ATCAY","Ataxia, cerebellar, Cayman type"]
["ATF6","Achromatopsia 7"]
["ATIC","AICA-ribosiduria due to ATIC deficiency"]
["ATL1","Neuropathy, hereditary sensory, type ID"]
["ATL1","Spastic paraplegia 3A"]
["ATL3","Neuropathy, hereditary sensory, type IF"]
["ATM","Ataxia Telangiectasia"]
["ATM","Familial breast / ovarian cancer_ATM"]
["ATOH7","Persistent hyperplastic primary vitreous, autosomal recessive"]
["ATP13A2","Ceroid lipofuscinosis, neuronal, 12"]
["ATP13A2","Kufor Rakeb disease"]
["ATP13A2","Kufor-Rakeb syndrome"]
["ATP13A2","Spastic paraplegia 78, autosomal recessive"]
["ATP1A1","Charcot-Marie-Tooth disease, axonal, type 2DD"]
["ATP1A2","Migraine, familial hemiplegic, 2"]
["ATP1A3","Alternating Hemipelegia of childhood"]
["ATP1A3","Dystonia 12 / Rapid onset dystonia Parkinsonism"]
["ATP1A3","Rapid onset-dystonia Parkinsonism"]
["ATP2A1","Brody disease"]
["ATP2A2","Darier disease"]
["ATP2B3","Spinocerebellar ataxia, X-linked 1"]
["ATP2C1","Hailey-Hailey disease"]
["ATP5A1","Combined oxidative phosphorylation deficiency 22"]
["ATP5A1","Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4"]
["ATP5E","Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"]
["ATP6AP1","Immunodeficiency 47"]
["ATP6AP2","Mental retardation, X-linked, syndromic, Hedera type"]
["ATP6AP2","Parkinsonism with spasticity, X-linked"]
["ATP6AP2","Liver disease, autophagic"]
["ATP6V0A2","Cutis laxa, autosomal recessive, type IIA"]
["ATP6V0A4","Renal tubular acidosis, distal, autosomal recessive"]
["ATP6V1A","Cutis laxa, autosomal recessive, type IID"]
["ATP6V1A","Epileptic encephalopathy, early infantile or early childhood 3"]
["ATP6V1B1","Renal tubular acidosis with deafness"]
["ATP6V1B2","Zimmermann-Laband syndrome 2"]
["ATP6V1E1","Cutis laxa, autosomal recessive, type IIC"]
["ATP7A","Inclusion body myopathy / myositis ATP7A"]
["ATP7A","Menkes disease"]
["ATP7A","Spinal muscular atrophy, X-linked, proximal_ATP7A"]
["ATP7B","Wilson disease"]
["ATP8A2","Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4"]
["ATP8B1","Cholestasis, progressive familial intrahepatic 1"]
["ATPAF2","Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"]
["ATR","Cutaneous telangiectasia and cancer syndrome, familial"]
["ATR","Seckel syndrome 1"]
["ATRX","Alpha-thalassemia/mental retardation syndrome"]
["ATRX","Mental retardation-hypotonic facies syndrome, X-linked"]
["AUH","3-Methylglutaconic aciduria type I"]
["AURKC","Infertility associated with multi-tailed spermatozoa and excessive DNA"]
["AURKC","Spermatogenic failure 5"]
["AUTS2","Mental retardation, autosomal dominant 26"]
["AVP","Diabetes insipidus, neurohypophyseal"]
["AVPR2","Nephrogenic syndrome of inappropriate antidiuresis"]
["AXIN2","Colorectal cancer-oligodontia"]
["B2M","Amyloidosis, familial visceral"]
["B2M","Immunodeficiency 43"]
["B3GALNT1","Globoside system"]
["B3GALNT2","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11"]
["B3GALT6","Ehlers-Danlos syndrome, progeroid type, 2"]
["B3GALT6","Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"]
["B3GALTL","Peters-plus syndrome"]
["B3GAT3","Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects"]
["B3GNT1","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13"]
["B4GALNT1","Spastic paraplegia 26, autosomal recessive"]
["B4GALT1","Congenital disorder of glycosylation, type IId"]
["B4GALT7","Ehlers-Danlos syndrome with short stature and limb anomalies"]
["B9D1","Joubert syndrome 27"]
["B9D1","Meckel syndrome 9"]
["B9D2","Meckel syndrome, type 10"]
["BAAT","Hypercholanemia, familial 1"]
["BAG3","Cardiomyopathy, dilated, 1HH"]
["BAG3","Myopathy, myofibrillar, 6"]
["BANF1","Nestor-Guillermo progeria syndrome"]
["BAP1","Uveal melanoma"]
["BARD1","Hereditary breast/ovarian cancer"]
["BARD1","Hereditary breast_ovarian cancer_BARD1"]
["BBIP1","Bardet-Biedl syndrome 18"]
["BBS1","Bardet-Biedl syndrome 1"]
["BBS10","Bardet-Biedl syndrome 10"]
["BBS12","Bardet-Biedl syndrome 12"]
["BBS2","Bardet-Biedl syndrome 2"]
["BBS2","Retinitis pigmentosa 74"]
["BBS4","Bardet-Biedl syndrome 4"]
["BBS5","Bardet-Biedl syndrome 5"]
["BBS7","Bardet-Biedl syndrome 7"]
["BBS9","Bardet-Biedl syndrome 9"]
["BCAM","Lutheran system"]
["BCAP31","Deafness, dystonia, and cerebral hypomyelination"]
["BCAT2","Hypervalinemia or hyperleucine-isoleucinemia"]
["BCHE","Butyrylcholinesterase deficiency"]
["BCKDHA","Maple syrup urine disease, type Ia"]
["BCKDHB","Maple syrup urine disease, type Ib"]
["BCKDK","Branched-chain ketoacid dehydrogenase kinase deficiency"]
["BCL10","Immunodeficiency 37"]
["BCL11A","Dias-Logan syndrome"]
["BCL11B","Immunodeficiency 49"]
["BCL11B","Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities"]
["BCMO1","Hypercarotenemia and vitamin A deficiency, autosomal dominant"]
["BCOR","Microphthalmia, syndromic 2"]
["BCS1L","Leigh syndrome_BSC1L"]
["BCS1L","Mitochondrial complex III deficiency, nuclear type 1"]
["BDNF","Central hypoventilation 1"]
["BEST1","Macular dystrophy, vitelliform, 2 / BEST macular dystrophy"]
["BEST1","Retinitis pigmentosa 50"]
["BEST1","Vitreoretinochoroidopathy"]
["BFSP1","Cataract 33, multiple types"]
["BFSP2","Cataract 12, multiple types"]
["BGN","Spondyloepimetaphyseal dysplasia, X-linked"]
["BHLHA9","Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type"]
["BICC1","Renal dysplasia, cystic, susceptibility to"]
["BICD2","Spastic paraplegia_BICD2"]
["BICD2","Spinal muscular atrophy, dominant, proximal 2"]
["BICD2","Spinal muscular atrophy, lower extremity-predominant, 2, AD"]
["BIN1","Myopathy, centronuclear, autosomal recessive"]
["BLK","Maturity-onset diabetes of the young, type XI"]
["BLM","Bloom syndrome"]
["BLNK","Agammaglobulinemia 4"]
["BLOC1S3","Hermansky-Pudlak syndrome 8"]
["BLOC1S6","Hermansky-pudlak syndrome 9"]
["BLVRA","Hyperbiliverdinemia"]
["BMP1","Osteogenesis imperfecta, type XIII"]
["BMP15","Ovarian dysgenesis 2"]
["BMP15","Premature ovarian failure 4"]
["BMP2","Brachydactyly, type A2"]
["BMP2","Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies"]
["BMP4","Microphthalmia, syndromic 6"]
["BMP4","Orofacial cleft 11"]
["BMP7","CAKUT 1"]
["BMPER","Diaphanospondylodysostosis"]
["BMPR1A","Polyposis, juvenile intestinal"]
["BMPR1B","Acromesomelic dysplasia, Demirhan type"]
["BMPR2","Pulmonary hypertension, familial primary, 1, with or without HHT"]
["BMS1","Aplasia cutis congenita, nonsyndromic"]
["BOLA3","Multiple mitochondrial dysfunctions syndrome 2"]
["BPGM","Deficiency of bisphosphoglycerate mutase"]
["BRAF","Noonan syndrome 7/LEOPARD syndrome 3"]
["BRAT1","Rigidity and multifocal seizure syndrome, lethal neonatal"]
["BRCA1","Breast-ovarian cancer, familial, 1"]
["BRCA1","Fanconi anemia, complementation group S"]
["BRCA2","Breast-ovarian cancer, familial, 2"]
["BRCA2","Fanconi anemia, complementation group D1"]
["BRCC3","Moyamoya disease_BRCC3"]
["BRD4","Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies."]
["BRF1","Cerebellofaciodental syndrome"]
["BRIP1","Breast cancer, early-onset"]
["BRIP1","Fanconi anemia, complementation group J"]
["BRPF1","Syndromic intellectual disability with histone defect"]
["BRWD3","Mental retardation, X-linked 93"]
["BSCL2","Lipodystrophy, congenital generalized, type 2"]
["BSCL2","Neuronopathy, distal hereditary motor, type VC"]
["BSCL2","Spastic paraplegia 17"]
["BSCL2","Neuropathy, distal hereditary motor, type VA2"]
["BSG","High myopia"]
["BSG","OK antigen"]
["BSND","Bartter syndrome, type 4a"]
["BTD","Cardioencephalomyopathy, fatal infantile"]
["BTD","Biotinidase deficiency"]
["BTK","Agammaglobulinemia and isolated hormone deficiency"]
["BTK","Agammaglobulinemia, X-linked 1"]
["BUB1B","Mosaic variegated aneuploidy syndrome 1"]
["BVES","Muscular dystrophy, limb-girdle, type 2X"]
["C10orf11","Albinism, oculocutaneous, type VII"]
["C10orf2","Infantile onset spinocerebellar ataxia"]
["C10orf2","Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"]
["C10orf2","Perrault syndrome 5"]
["C10orf2","Progressive external ophthalmoplegia, autosomal dominant, 3"]
["C11orf83","Mitochondrial complex III deficiency, nuclear type 9"]
["C12orf57","Temtamy syndrome"]
["C12orf65","Combined oxidative phosphorylation deficiency 7"]
["C12orf65","Retinopathy , autosomal recessive"]
["C12orf65","Spastic paraplegia 55, autosomal recessive"]
["C15orf41","Dyserythropoietic anemia, congenital, type Ib"]
["C19orf12","Neurodegeneration with brain iron accumulation 4"]
["C19orf12","Spastic paraplegia 43, autosomal recessive"]
["C1orf172","ECTODERMAL DYSPLASIA 12"]
["C1QA","C1Q deficiency 1"]
["C1QB","C1Q deficiency 2"]
["C1QC","C1Q deficiency 3"]
["C1QTNF5","Retinal degeneration, late-onset, autosomal dominant"]
["C1R","Complement C1 deficiency"]
["C1R","Ehlers-Danlos syndrome, periodontal type, 1"]
["C1S","Ehlers-Danlos syndrome, periodontal type, 2"]
["C2","Complement C2 deficiency"]
["C2","Macular degeneration, age-related, 14a"]
["C21ORF2","Axial Spondylometaphyseal Dysplasia"]
["C21ORF2","Cone-rod dystrophy_C21ORF2"]
["C21ORF59","Ciliary dyskinesia, primary, 26"]
["C2CD3","Orofaciodigital syndrome XIV"]
["C2orf71","Retinitis pigmentosa 54"]
["C3","C3 deficiency"]
["C3","Complement component 3 deficiency"]
["C3","Macular degeneration, age-related, 9"]
["C4A","C4A deficiency"]
["C4B","C4B deficiency"]
["C4orf26","Amelogenesis imperfecta, type IIA4"]
["C5","Complement C5 deficiency"]
["C5orf42","Joubert syndrome 17"]
["C5orf42","Orofaciodigital syndrome VI"]
["C6","Complement C6 deficiency"]
["C6orf70","Periventricular nodular heterotopia 6"]
["C7","Complement C7 deficiency"]
["C7orf10","Glutaric aciduria III"]
["C8A","Complement C8 deficiency 1"]
["C8B","Complement C8 deficiency 2"]
["C8orf37","Bardet Biedl syndrome 21"]
["C8orf37","Bardet-Biedl syndrome 21"]
["C8orf37","Cone-rod dystrophy 16"]
["C8orf37","Retinitis pigmentosa 64"]
["C9","Complement C9 deficiency"]
["C9","Macular degeneration, age-related, 15"]
["CA12","Hyperchloridosis"]
["CA2","Osteopetrosis, autosomal recessive 3, with renal tubular acidosis"]
["CA4","Retinitis pigmentosa 17"]
["CA5A","Hyperammonemia due to carbonic anhydrase VA deficiency"]
["CA8","Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3"]
["CABP2","Deafness, autosomal recessive 93"]
["CABP4","Cone-rod synaptic disorder, congenital nonprogressive"]
["CACNA1A","Epileptic encephalopathy, early infantile, 42"]
["CACNA1A","Episodic ataxia, type 2"]
["CACNA1A","Migraine, familial hemiplegic, 1"]
["CACNA1B","Dystonia 23"]
["CACNA1C","Brugada syndrome 3"]
["CACNA1C","Long QT syndrome 8"]
["CACNA1C","Timothy syndrome"]
["CACNA1D","Primary aldosteronism, seizures, and neurologic abnormalities"]
["CACNA1D","Sinoatrial node dysfunction and deafness"]
["CACNA1F","Aland Island eye disease"]
["CACNA1F","Cone-rod dystropy, X-linked, 3"]
["CACNA1F","Night blindness, congenital stationary (incomplete), 2A, X-linked"]
["CACNA1G","Spinocerebellar ataxia 42"]
["CACNA1H","Hyperaldosteronism, familial, type IV"]
["CACNA1S","Hypokalemic periodic paralysis 1"]
["CACNA1S","Hypokalemic periodic paralysis, type 1"]
["CACNA1S","Myopathy, central core-candidate"]
["CACNA2D4","Retinal cone dystrophy 4"]
["CACNB2","Brugada syndrome 4"]
["CACNB4","Episodic ataxia, type 5"]
["CACNG2","Mental retardation, autosomal dominant 10"]
["CAD","Congenital disorder of glycosylation, type Iz"]
["CALM1","Long QT syndrome 14"]
["CALM1","Ventricular tachycardia, catecholaminergic polymorphic, 4hycardia"]
["CALM2","Long QT syndrome 15"]
["CALR3","Cardiomyopathy, familial hypertrophic, 19"]
["CAMTA1","Cerebellar ataxia, nonprogressive, with mental retardation"]
["CANT1","Desbuquois dysplasia 1"]
["CANT1","Epiphyseal dysplasia, multiple, 7"]
["CAPN1","Spastic paraplegia 76"]
["CAPN3","Muscular dystrophy, limb-girdle, type 2A"]
["CAPN5","Vitreoretinopathy, neovascular inflammatory"]
["CARD11","Immunodeficiency 11"]
["CARD11","Immunodeficiency 11B with atopic dermatitits"]
["CARD14","Pityriasis rubra pilaris"]
["CARD9","Candidiasis, familial, 2, autosomal recessive"]
["CARS2","Combined oxidative phosphorylation deficiency 27"]
["CASC5","Microcephaly 4, primary, autosomal recessive"]
["CASK","FG syndrome 4"]
["CASK","Mental retardation and microcephaly with pontine and cerebellar hypoplasia"]
["CASK","Mental retardation, X-linked syndromic"]
["CASP10","Autoimmune lymphoproliferative syndrome, type 2"]
["CASP10","Autoimmune lymphoproliferative syndrome, type II"]
["CASP14","Ichthyosis, congenital, autosomal recessive 12"]
["CASP8","Autoimmune lymphoproliferative syndrome, type IIB"]
["CASQ1","Myopathy, vacuolar, with CASQ1 aggregates"]
["CASQ2","Ventricular tachycardia, catecholaminergic polymorphic, 2"]
["CASR","Hyperparathyroidism, neonatal severe"]
["CASR","Hypocalciuric hypercalcemia, type I"]
["CAST","Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads"]
["CASZ1","Cardiomyopathy, dilated"]
["CAT","Acatalasemia"]
["CATSPER1","Spermatogenic failure 7"]
["CAV1","Lipodystrophy, congenital generalized, type 3"]
["CAV1","Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"]
["CAV1","Pulmonary hypertension, primary, 3"]
["CAV3","Long QT syndrome 9"]
["CAV3","Muscular dystrophy, limb-girdle, type 1C"]
["CAV3","Myopathy, distal, Tateyama type"]
["CAV3","Cardiomyopathy, familial hypertrophic_CAV3"]
["CBL","Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"]
["CBS","Homocystinuria (Hyperhomocysteinemia and thrombosis)"]
["CBX2","46XY sex reversal 5"]
["CC2D1A","Mental retardation, autosomal recessive 3"]
["CC2D2A","COACH syndrome 1"]
["CC2D2A","Joubert syndrome 9"]
["CC2D2A","Meckel syndrome 6"]
["CCBE1","Hennekam lymphangiectasia-lymphedema syndrome 1"]
["CCDC103","Ciliary dyskinesia, primary, 17"]
["CCDC11","Heterotaxy, visceral, 6, autosomal recessive"]
["CCDC111","Myopia 22, autosomal dominant"]
["CCDC114","Ciliary dyskinesia, primary, 20"]
["CCDC115","Congenital disorder of glycosylation, type Iio"]
["CCDC151","Ciliary dyskinesia, primary, 30"]
["CCDC22","Ritscher-Schinzel syndrome 2"]
["CCDC39","Ciliary dyskinesia, primary, 14"]
["CCDC40","Ciliary dyskinesia, primary, 15"]
["CCDC41","Nephronophthisis 18"]
["CCDC50","Deafness, autosomal dominant 44"]
["CCDC65","Ciliary dyskinesia, primary, 27"]
["CCDC78","Myopathy, centronuclear, 4"]
["CCDC8","3M syndrome 3"]
["CCDC88C","Hydrocephalus, nonsyndromic, autosomal recessive 1"]
["CCDC88C","Spinocerebellar ataxia 40"]
["CCM2","Cerebral cavernous malformation 2"]
["CCND2","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"]
["CCND2","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3"]
["CCNO","Ciliary dyskinesia, primary, 29"]
["CCT5","Neuropathy, hereditary sensory, with spastic paraplegia"]
["CD151","Nephropathy with pretibial epidermolysis bullosa and deafness"]
["CD151","Nephrophathy with pretibial epidernolysis bullosa and deafness"]
["CD151","Raph antigen"]
["CD164","Deafness, autosomal dominant 66"]
["CD19","Immunodeficiency, common variable, 3"]
["CD247","Immunodeficiency 25"]
["CD27","Lymphoproliferative syndrome 2"]
["CD2AP","Glomerulosclerosis, focal segmental, 3"]
["CD2AP","Nephrotic syndrome-candidate_CD2AP"]
["CD320","Transcobalamin receptor (TCBlR) deficiency (transcobalamin transport issue)"]
["CD36","Platelet glycoprotein IV deficiency"]
["CD3D","Immunodeficiency 19"]
["CD3E","Immunodeficiency 18"]
["CD3E","Immunodeficiency 18, with SCID variant"]
["CD3G"," Immunodeficiency 17, CD3 gamma deficient"]
["CD3G","Immunodeficiency 17"]
["CD40","Immunodeficiency with hyper-IgM, type 3"]
["CD40LG","Immunodeficiency with hyper IgM, type 1"]
["CD40LG","Immunodeficiency, X-linked, with hyper-IgM"]
["CD44","Indian group"]
["CD46","Hemolytic uremic syndrome, atypical, susceptibility to, 2"]
["CD55","Cromer blood group system"]
["CD59","CD59-mediated, with or without immune-mediated polyneuropathy, Hemolytic anemia "]
["CD59","Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy"]
["CD79A","Agammaglobulinemia 3, autosomal recessive"]
["CD79B","Agammaglobulinemia 6"]
["CD81","Immunodeficiency, common variable, 6"]
["CD8A","Cd8 deficiency, familial"]
["CD96","C syndrome (Opitz Trignocephaly)"]
["CDAN1","Anemia, congenital dyserythropoietic, type Ia"]
["CDC14A","Deafness, autosomal recessive 105"]
["CDC42","Developmental disorder_Noonan_like_CDC42"]
["CDC45","Meier-Gorlin syndrome 7"]
["CDC5L","CAKUT_CDC5L"]
["CDC6","Meier-Gorlin syndrome 5"]
["CDC73","Hyperparathyroidism, familial primary"]
["CDCA7","Immunodeficiency-centromeric instability-facial anomalies syndrome 3"]
["CDCA8","Thyroid dysgenesis"]
["CDH1","Hereditary diffuse gastric cancer"]
["CDH1","Blepharocheilodontic syndrome 1"]
["CDH15","Mental retardation, autosomal dominant 3"]
["CDH23","Deafness, autosomal recessive 12"]
["CDH23","Usher syndrome, type 1D"]
["CDH3","Hypotrichosis, congenital, with juvenile macular dystrophy"]
["CDH3","Ectodermal dysplasia, ectrodactyly, and macular dystrophy"]
["CDHR1","Cone-rod dystrophy 15"]
["CDHR1","Retinitis pigmentosa 65"]
["CDK4","Hereditary melanoma"]
["CDK5","Lissencephaly 7 with cerebellar hypoplasia"]
["CDK5RAP2","Microcephaly 3, primary, autosomal recessive"]
["CDK6","Microcephaly 12, primary, autosomal recessive"]
["CDKL5","Epileptic encephalopathy, early infantile, 2"]
["CDKN1B","Multiple endocrine neoplasia IV"]
["CDKN1C","IMAGE syndrome"]
["CDKN2A","Hereditary melanoma_CDKN2A"]
["CDON","Holoprosencephaly 11"]
["CDSN","Hypotrichosis 2"]
["CDSN","Peeling skin syndrome 1"]
["CDT1","Meier-Gorlin syndrome 4"]
["CEACAM16","Deafness, autosomal dominant 4B"]
["CEBPA","Leukemia, Acute Myeloid, Familial"]
["CEBPA","Leukemia, Acute Myeloid, Familial 1"]
["CEBPE","Specific granule deficiency"]
["CECR1","Polyarteritis nodosa, childhood-onset"]
["CEL","Maturity-onset diabetes of the young, type VIII"]
["CENPE","Microcephaly 13, primary, autosomal recessive"]
["CENPF","Ciliary dyskinesia, primary, 31"]
["CENPJ","Microcephaly 6, primary, autosomal recessive"]
["CENPJ","Seckel syndrome 4"]
["CEP104","Joubert syndrome 25"]
["CEP120"," Short-rib thoracic dysplasia 13 with or without polydactyly"]
["CEP120","Joubert syndrome 31"]
["CEP135","Microcephaly 8, primary, autosomal recessive"]
["CEP152","Microcephaly 9, primary, autosomal recessive"]
["CEP152","Seckel syndrome 5"]
["CEP164","Nephronophthisis 15"]
["CEP19","Morbid obesity and spermatogenic failure"]
["CEP250","Usher-Like"]
["CEP290","Bardet-Biedl syndrome 14"]
["CEP290","Joubert syndrome 5"]
["CEP290","Leber congenital amaurosis 10"]
["CEP290","Meckel syndrome 4"]
["CEP290","Nephronophthisis 6"]
["CEP290","Senior Loken Syndrome-6"]
["CEP290","Senior-Loken syndrome 6"]
["CEP41","Joubert syndrome 15"]
["CEP57","Mosaic variegated aneuploidy syndrome 2"]
["CEP63","Seckel syndrome 6"]
["CEP78","Cone-rod dystrophy associated with primary-cilia defects"]
["CERKL","Retinitis pigmentosa 26"]
["CERKL","Cone-rod dystrophy_CERKL"]
["CERS1","Epilepsy, progressive myoclonic, 8"]
["CERS3","Ichthyosis, congenital, autosomal recessive 9"]
["CES1","Carboxylesterase 1 deficiency"]
["CFB","Complement factor B deficiency"]
["CFB","Hemolytic uremic syndrome, atypical, susceptibility to, 4"]
["CFB","Macular degeneration, age-related, 14b"]
["CFC1","Cardiofaciocutaneous syndrome"]
["CFC1","Heterotaxy, visceral, 2, autosomal"]
["CFD","Complement factor D deficiency"]
["CFH","Complement factor H deficiency"]
["CFH","Hemolytic uremic syndrome, atypical, susceptibility to, 1"]
["CFH","Macular degeneration, age-related, 4"]
["CFHR1","Hemolytic uremic syndrome, atypical, susceptibility to"]
["CFHR3","Hemolytic uremic syndrome, atypical, susceptibility to_CFHR3"]
["CFHR4","Hemolytic uremic syndrome, atypical, susceptibility to_CFHR4"]
["CFHR5","Nephropathy due to CFHR5 deficiency"]
["CFI","Hemolytic uremic syndrome, atypical, susceptibility to, 3"]
["CFI","Macular degeneration, age-related, 13"]
["CFL2","Nemaline myopathy 7, autosomal recessive"]
["CFP","Properdin deficiency, X-linked"]
["CFTR","Cystic fibrosis"]
["CFTR","Hereditary Pancreatitis_CFTR"]
["CHAMP1","Mental retardation, autosomal dominant 40"]
["CHAT","Myasthenic syndrome, congenital, associated with episodic apnea"]
["CHCHD10","Frontotemporal dementia and/or amyotrophic lateral sclerosis 2"]
["CHCHD10","Spinal muscular atrophy, Jokela type"]
["CHCHD2","Parkinson disease 22, autosomal dominant"]
["CHD1","Pilarowski-Bjornsson syndrome"]
["CHD1L","CAKUT 2"]
["CHD2","Epileptic encephalopathy, childhood-onset"]
["CHD4","Sifrim-Hitz-Weiss syndrome"]
["CHD7","CHARGE syndrome 1"]
["CHD7","Hypogonadotropic hypogonadism 5 with or without anosmia"]
["CHD8","Autism, susceptibility to, 18"]
["CHEK2","Li Fraumeni like syndrome"]
["CHIC2","Leukemia, Acute Myeloid, Familial 2"]
["CHKB","Muscular dystrophy, congenital, megaconial type"]
["CHM","Choroideremia"]
["CHMP1A","Pontocerebellar hypoplasia, type 8"]
["CHMP2B","Amyotrophic lateral sclerosis 17"]
["CHMP2B","Dementia, familial, nonspecific"]
["CHMP2B","Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17"]
["CHMP4B","Cataract 31, multiple types"]
["CHN1","Duane syndrome type 2"]
["CHRDL1","Megalocornea 1, X-linked"]
["CHRM3","Eagle Barrett syndrome/ Prune Belly"]
["CHRM3","Prune belly syndrome"]
["CHRNA1","Multiple pterygium syndrome 1"]
["CHRNA1","Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNA1"]
["CHRNA2","Epilepsy, nocturnal frontal lobe, 4"]
["CHRNA4","Epilepsy, nocturnal frontal lobe, 1"]
["CHRNB1","Myasthenic syndrome, slow-channel congenital"]
["CHRNB2","Epilepsy, nocturnal frontal lobe, 3"]
["CHRND","Multiple pterygium syndrome 2"]
["CHRND","Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRND"]
["CHRNE","Myasthenic syndrome, fast-channel congenital, slow-channel congenital_CHRNE"]
["CHRNG","Multiple pterygium syndrome 3"]
["CHST14","Ehlers-Danlos syndrome, musculocontractural type 1"]
["CHST3","Spondyloepimetaphyseal dysplasia with congenital joint dislocations"]
["CHST6","Macular corneal dystrophy"]
["CHST8","Peeling skin syndrome 3"]
["CHSY1","Temtamy preaxial brachydactyly syndrome"]
["CHUK","Cocoon syndrome"]
["CIB2","Deafness, autosomal recessive 48"]
["CIB2","Usher syndrome, type IJ"]
["CIC","Mental retardation, autosomal dominant 45"]
["CIDEC","Lipodystrophy, familial partial, type 5"]
["CIITA","Bare lymphocyte syndrome type II, complementation group A"]
["CIRH1A","Cirrhosis, North American Indian childhood type"]
["CISD2","Wolfram syndrome 2"]
["CIT","Microcephaly 17, primary, autosomal recessive"]
["CITED2","Atrial septal defect 8"]
["CITED2","Ventricular septal defect 2"]
["CIZ1","Dystonia 23-candidate"]
["CKAP2L","Filippi syndrome"]
["CLCF1","Cold-induced sweating syndrome 2"]
["CLCN1","Myotonia congenita"]
["CLCN1","Myotonia congenita, AD and AR"]
["CLCN2","Leukoencephalopathy with ataxia"]
["CLCN2","Primary aldosteronism"]
["CLCN4","Mental retardation, X-linked 49/15"]
["CLCN5","Dent syndrome"]
["CLCN5","Hypophosphatemic rickets"]
["CLCN7","Osteopetrosis, autosomal dominant 2, autosomal recessive 4"]
["CLCNKA","Bartter syndrome, type 4b, digenic"]
["CLCNKB","Bartter syndrome, type 3, type 4b, digenic"]
["CLDN1","Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis"]
["CLDN14","Deafness, autosomal recessive 29"]
["CLDN16","Hypomagnesemia 3, renal"]
["CLDN19","Hypomagnesemia 5, renal, with ocular involvement"]
["CLEC7A","Candidiasis, familial, 4, autosomal recessive"]
["CLIC2","Mental retardation, X-linked, syndromic 32"]
["CLIC5","Deafness, autosomal recessive 103"]
["CLMP","Congenital short bowel syndrome_CLMP"]
["CLN3","Ceroid lipofuscinosis, neuronal, 3"]
["CLN5","Ceroid lipofuscinosis, neuronal, 5"]
["CLN6","Ceroid lipofuscinosis, neuronal, 6"]
["CLN8","Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant"]
["CLP1","Pontocerebellar hypoplasia, type 10"]
["CLPB","3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia"]
["CLPP","Perrault syndrome 3"]
["CLRN1","Retinitis pigmentosa 61"]
["CLRN1","Usher syndrome, type 3A"]
["CLTCL1","Congenital Insensitivity to Pain with Preserved Temperature sensation"]
["CNGA1","Retinitis pigmentosa 49"]
["CNGA3","Achromatopsia 2"]
["CNGB1","Retinitis pigmentosa 45"]
["CNGB3","Achromatopsia 3"]
["CNKSR2","Mental retardation, X-linked, syndromic, Houge type"]
["CNNM2","Hypomagnesemia 6, renal"]
["CNNM4","Jalili syndrome"]
["CNPY3","Epileptic encephalopathy, early infantile, 60"]
["CNTN1","Myopathy, congenital, Compton-North"]
["CNTN2","Epilepsy, myoclonic, familial adult, 5"]
["CNTNAP1","Lethal congenital contracture syndrome 7"]
["CNTNAP2","Cortical dysplasia-focal epilepsy syndrome"]
["COA3","Neuropathy,Exercise intolerance, Obesity & Short stature-complex IV"]
["COA5","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3"]
["COA5","Mitochondrial complex IV deficiency_COA5"]
["COA6","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4"]
["COASY","Neurodegeneration with brain iron accumulation 6"]
["COCH","Deafness, autosomal dominant 9"]
["COCH","Deafness, autosomal recessive 110"]
["COG1","Congenital disorder of glycosylation, type IIg"]
["COG2","Congenital disorder of glycosylation, type Iiq"]
["COG4","Congenital disorder of glycosylation, type IIj"]
["COG5","Congenital disorder of glycosylation, type IIi"]
["COG6","Congenital disorder of glycosylation, type IIl"]
["COG7","Congenital disorder of glycosylation, type IIe"]
["COG8","Congenital disorder of glycosylation, type IIh"]
["COL10A1","Metaphyseal chondrodysplasia, Schmid type"]
["COL11A1","Stickler syndrome, type II"]
["COL11A2","Deafness, autosomal dominant 13"]
["COL11A2","Deafness, autosomal recessive 53"]
["COL11A2","Stickler syndrome, type III"]
["COL12A1","Bethlem myopathy 2"]
["COL12A1","Ullrich congenital muscular dystrophy 2"]
["COL17A1","Epidermolysis bullosa, junctional, non-Herlitz type_COL17A1"]
["COL18A1","Knobloch syndrome 1"]
["COL1A1","Ehlers-Danlos syndrome, type I, type VIIA"]
["COL1A1","Ehlers-Danlos syndrome, type VIIA"]
["COL1A1","Osteogenesis imperfecta, type I, type III, type IV"]
["COL1A2","Ehlers-Danlos Syndrome Type VIIB"]
["COL1A2","Ehlers-Danlos syndrome, type VIIB"]
["COL1A2","Osteogenesis imperfecta, type II, type III, type IV"]
["COL25A1","Fibrosis of extraocular muscles, congenital, 5"]
["COL27A1","Steel syndrome"]
["COL2A1","Achondrogenesis, type II or hypochondrogenesis"]
["COL2A1","Avascular necrosis of femoral head, primary, 1"]
["COL2A1","Epiphyseal dysplasia, multiple, with myopia and deafness"]
["COL2A1","Stickler syndrome, type I"]
["COL3A1","Ehlers-Danlos syndrome, type IV, type III"]
["COL4A1","Porencephaly 1"]
["COL4A2","Porencephaly 2"]
["COL4A3","Alport syndrome, autosomal 1"]
["COL4A3BP","Mental retardation, autosomal dominant 34"]
["COL4A4","Alport, autosomal 2"]
["COL4A5","Alport syndrome, X-linked"]
["COL4A6","Deafness, X-linked 6"]
["COL4A6","Leiomyomatosis, diffuse, with Alport syndrome"]
["COL5A1","Ehlers-Danlos syndrome, type I, type II"]
["COL5A2","Ehlers-Danlos syndrome, type I"]
["COL6A1","Bethlem myopathy 1"]
["COL6A1","Ullrich congenital muscular dystrophy 1_COL6A1"]
["COL6A2","Bethlem myopathy 1B"]
["COL6A2","Ullrich congenital muscular dystrophy 1_COL6A2"]
["COL6A3","Bethlem myopathy"]
["COL6A3","Dystonia 27"]
["COL6A3","Ullrich congenital muscular dystrophy 1_COL6A3"]
["COL7A1","Epidermolysis bullosa dystrophica"]
["COL7A1","Epidermolysis bullosa dystrophica, AD"]
["COL7A1","Epidermolysis bullosa dystrophica, AR"]
["COL8A2","Corneal dystrophy, Fuchs endothelial, 1"]
["COL8A2","Corneal dystrophy, posterior polymorphous 2"]
["COL9A1","Epiphyseal dysplasia, multiple, 6"]
["COL9A1","Stickler syndrome, type IV"]
["COL9A2","Epiphyseal dysplasia, multiple, 2"]
["COL9A2","Stickler syndrome, type V"]
["COL9A3","Epiphyseal dysplasia, multiple, 3"]
["COL9A3","Stickler syndrome, type VI"]
["COLEC11","3MC syndrome 2"]
["COLQ","Myasthenic syndrome, congenital, 5"]
["COMP","Epiphyseal dysplasia, multiple 1"]
["COPA","Hereditary autoimmune-mediated lung disease and arthritis"]
["COQ2","Coenzyme Q10 deficiency, primary, 1"]
["COQ4","Coenzyme Q10 deficiency, primary, 7"]
["COQ6","Coenzyme Q10 deficiency, primary, 6"]
["COQ6","Nephrotic syndrome_COQ6"]
["COQ9","Coenzyme Q10 deficiency, primary, 5"]
["CORIN","Preeclampsia/eclampsia 5"]
["CORO1A","Immunodeficiency 8"]
["COX10","Leigh syndrome due to mitochondrial COX4 deficiency"]
["COX10","Mitochondrial complex IV deficiency_COX10"]
["COX14","Mitochondrial complex IV deficiency_COX14"]
["COX15","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2"]
["COX15","Leigh syndrome due to cytochrome c oxidase deficiency"]
["COX20","Mitochondrial complex IV deficiency_COX20"]
["COX4I1","Cytochrome c oxidase deficiency-candidate 1"]
["COX4I1","Fanconi anemia_COX4I1"]
["COX4I2","Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis"]
["COX6A1","Charcot-Marie-Tooth disease, recessive intermediate D"]
["COX6B1","Mitochondrial complex IV deficiency_COX6B1"]
["COX7A1","Cytochrome c oxidase deficiency-candidate 2"]
["COX7B","Linear skin defects with multiple congenital anomalies 2"]
["COX8A","Mitochondrial complex IV deficiency_COX8A"]
["CP","Aceruloplasminemia"]
["CPA6","Epilepsy, familial temporal lobe, 5"]
["CPA6","Febrile seizures, familial, 11"]
["CPAMD8","Autosomal-Recessive Anterior Segment Dysgenesis"]
["CPN1","Carboxypeptidase N deficiency"]
["CPOX","Coproporphyria"]
["CPS1","Carbamoylphosphate synthetase I deficiency"]
["CPT1A","Carnitine palmitoyltransferase deficiency I"]
["CPT1A","CPT deficiency, hepatic, type IA"]
["CPT1B","CPT deficiency"]
["CPT1C","CPT deficiency, hepatic, type IC"]
["CPT1C","Spastic paraplegia 73, autosomal dominant"]
["CPT2","Carnitine palmitoyltransferase deficiency II "]
["CPT2","CPT deficiency, hepatic, type II"]
["CR1","Knops system"]
["CR2","Immunodeficiency, common variable, 7"]
["CRADD","Mental retardation, autosomal recessive 34"]
["CRADD","Mental retardation, autosomal recessive 34, with variant lissencephaly"]
["CRAT","Neurodegeneration with brain iron accumulation 8"]
["CRB1","Leber congenital amaurosis 8"]
["CRB1","Retinitis pigmentosa 12"]
["CRB2","Glomerulosclerosis, focal segmental, 9"]
["CRBN","Mental retardation, autosomal recessive 2"]
["CREB3L1","Osteogenesis imperfecta, type XVI"]
["CREBBP","Rubinstein-Taybi syndrome 1"]
["CRELD1","Atrioventricular septal defect 2"]
["CRIPT","Short stature with microcephaly and distinctive facies"]
["CRLF1","Cold-induced sweating syndrome 1"]
["CRTAP","Osteogenesis imperfecta, type VII"]
["CRX","Cone-rod dystrophy 2"]
["CRX","Leber congenital amaurosis 7"]
["CRYAA","Cataract 9, multiple types"]
["CRYAB","Cardiomyopathy, dilated, 1II"]
["CRYAB","Cataract 16, multiple types"]
["CRYAB","Myopathy, myofibrillar, 2"]
["CRYBA1","Cataract 10, multiple types"]
["CRYBA2","Cataract 42"]
["CRYBA4","Cataract 23"]
["CRYBB1","Cataract 17, multiple types"]
["CRYBB2","Cataract 3, multiple types"]
["CRYBB3","Cataract 22, autosomal recessive"]
["CRYGB","Cataract 39, multiple types, autosomal dominant"]
["CRYGC","Cataract 2, multiple types"]
["CRYGD","Cataract 4, multiple types"]
["CRYGS","Cataract 20, multiple types"]
["CRYM","Deafness, autosomal dominant 40"]
["CSF1R","Leukoencephalopathy, diffuse hereditary, with spheroids"]
["CSF2RA","Surfactant metabolism dysfunction, pulmonary, 4"]
["CSF2RB","Surfactant metabolism dysfunction, pulmonary, 5"]
["CSF3R","Neutropenia, severe congenital, 7, autosomal recessive"]
["CSNK1D","Advanced sleep phase syndrome, familial, 2"]
["CSNK2A1","Okur-Chung neurodevelopmental syndrome"]
["CSPP1","Joubert syndrome 21"]
["CSRP3","Cardiomyopathy, dilated, 1M"]
["CSRP3","Cardiomyopathy, familial hypertrophic, 12"]
["CST3","Cerebral amyloid angiopathy"]
["CST3","Macular degeneration, age-related, 11"]
["CSTA","Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like, peeling skin syndrome 4"]
["CSTA","Peeling skin syndrome 4"]
["CSTB","Epilepsy, progressive myoclonic 1A (Baltic)"]
["CTC1","Cerebroretinal microangiopathy with calcifications and cysts 1"]
["CTCF","Mental retardation, autosomal dominant 21"]
["CTDP1","Congenital cataracts, facial dysmorphism, and neuropathy"]
["CTLA4","Autoimmune lymphoproliferative syndrome, type V"]
["CTNNA1","Macular dystrophy, patterned, 2"]
["CTNNA3","Arrhythmogenic right ventricular dysplasia 13"]
["CTNNB1","Mental retardation, autosomal dominant 19"]
["CTNNB1","Exudative vitreoretinopathy 7"]
["CTNND1","Blepharocheilodontic syndrome 2"]
["CTNND1","Cleft lip/Palate_CTNND1"]
["CTNS","Cystinosis"]
["CTPS1","Immunodeficiency 24"]
["CTRC","Hereditary Pancreatitis_CTRC"]
["CTSA","Galactosialidosis"]
["CTSC","Papillon-Lefèvre syndrome"]
["CTSD","Ceroid lipofuscinosis, neuronal, 10"]
["CTSF","Ceroid lipofuscinosis, neuronal, 13"]
["CTSK","Pycnodysostosis"]
["CUBN","Megaloblastic anemia-1, Finnish type"]
["CUL3","Pseudohypoaldosteronism type IIE_CUL3"]
["CUL4B","Mental retardation, X-linked, syndromic 15 (Cabezas type)"]
["CUL7","3M syndrome 1"]
["CWF19L1","Spinocerebellar ataxia, autosomal recessive 17"]
["CX3CR1","Macular degeneration, age-related, 12"]
["CXCR4","Warts, hypogammaglobulinemia, infections, and myelokathexis 2"]
["CYB5A","Methemoglobinemia, type IV"]
["CYB5R3","Methemoglobinemia, type I and type II"]
["CYBA","Chronic granulomatous disease, autosomal, due to deficiency of CYBA"]
["CYBB","Chronic granulomatous disease, X-linked"]
["CYBB","Immunodeficiency 34, mycobacteriosis, X-linked"]
["CYC1","Mitochondrial complex III deficiency, nuclear type 6"]
["CYCS","Thrombocytopenia 4"]
["CYLD","Brooke-Spiegler syndrome"]
["CYP11A1","Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete"]
["CYP11B1","Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency"]
["CYP11B1","Hyperaldosteronism, familial, type I"]
["CYP11B2","Hypoaldosteronism, congenital, due to CMO I deficiency"]
["CYP17A1","17-alpha-hydroxylase/17,20-lyase deficiency"]
["CYP19A1","Aromatase deficiency"]
["CYP1B1","Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset"]
["CYP1B1","Peters anomaly_CYP1B1"]
["CYP21A2","Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency"]
["CYP24A1","Infantile hypercalcemia"]
["CYP26A1","Hirschsprung_candidate_CYP26A1"]
["CYP26B1","Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies"]
["CYP26C1","Focal facial dermal dysplasia 4"]
["CYP27A1","Cerebrotendinous Xanthomatosis"]
["CYP27B1","Vitamin D-dependent rickets, type I"]
["CYP2R1","Vitamin D hydroxylation-deficient rickets, type Ib"]
["CYP2U1","Spastic paraplegia 56, autosomal recessive"]
["CYP4F22","Ichthyosis, congenital, autosomal recessive 5"]
["CYP4V2","Bietti crystalline corneoretinal dystrophy"]
["CYP7B1","Bile acid synthesis defect, congenital, 3"]
["CYP7B1","Spastic paraplegia 5A"]
["D2HGDH","D-2-hydroxyglutaric aciduria 1"]
["DAG1","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9"]
["DAG1","Muscular dystrophy, limb-girdle, type 2P"]
["DARC","Duffy blood group"]
["DARS","Hypomyelination with brainstem and spinal cord involvement and leg spasticity"]
["DARS2","Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation"]
["DBH","Dopamine beta-hydroxylase deficiency"]
["DBT","Maple syrup urine disease, type II"]
["DCAF17","Woodhouse-Sakati syndrome"]
["DCAF8","Giant axonal neuropathy 2, autosomal dominant"]
["DCC","Mirror movements, congenital"]
["DCC","Split brain syndrome"]
["DCC","Gaze palsy, horizontal, with progressive scoliosis 2"]
["DCDC2","Deafness, autosomal recessive 66"]
["DCDC2","Nephronophthisis 19"]
["DCDC2","Renal Hepatic Ciliopathy"]
["DCHS1","Van Maldergem syndrome 1 "]
["DCLRE1B","Dyskeratosis congenita like_DCLRE1B\n"]
["DCLRE1C","OMENN Syndrome 1"]
["DCLRE1C","Severe combined immunodeficiency, Athabascan type"]
["DCN","Congenital stromal corneal dystrophy"]
["DCPS","Al-Raqad syndrome"]
["DCTN1","Neuronopathy, distal hereditary motor, type VIIB"]
["DCTN1","Perry syndrome"]
["DCX","Lissencephaly, X-linked"]
["DDB2","Xeroderma pigmentosum, group E, DDB-negative subtype"]
["DDC","Aromatic L-amino acid decarboxylase deficiency"]
["DDHD1","Spastic paraplegia 28, autosomal recessive"]
["DDHD2","Spastic paraplegia 54, autosomal recessive"]
["DDOST","Congenital disorder of glycosylation, type Ir"]
["DDR2","Spondylometaepiphyseal dysplasia short limb-hand type"]
["DDX11","Warsaw Breakage Syndrome"]
["DDX3X","Mental retardation, X-linked 102"]
["DDX58","Singleton-Merten syndrome 2"]
["DDX59","Orofaciodigital syndrome V"]
["DEAF1","Mental retardation, autosomal dominant 24"]
["DECR1","Dienoyl-CoA reductase deficiency"]
["DENND5A","Epileptic encephalopathy, early infantile, 49"]
["DEPDC5","Epilepsy, familial focal, with variable foci 1"]
["DES","Cardiomyopathy, dilated, 1I"]
["DES","Muscular dystrophy, limb-girdle, type 2R"]
["DES","Myopathy, myofibrillar, 1"]
["DES","Inclusion body myopathy / myositis DES"]
["DFNA5","Deafness, autosomal dominant 5"]
["DFNB31","Deafness, autosomal recessive 31"]
["DFNB31","Usher syndrome, type 2D"]
["DFNB59","Deafness, autosomal recessive 59"]
["DGAT1","Diarrhea 7"]
["DGKE","Hemolytic uremic syndrome, atypical, susceptibility to, 7"]
["DGKE","Nephrotic syndrome, type 7"]
["DGUOK","Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"]
["DGUOK","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"]
["DGUOK","Spinal muscular atrophy, recessive, proximal_DGUOK"]
["DHCR24","Desmosterolosis"]
["DHCR7","Smith Lemli Opitz syndrome"]
["DHDDS","Retinitis pigmentosa 59"]
["DHDDS","Developmental delay and seizures with or without movement abnormalities"]
["DHFR","Megaloblastic anemia due to dihydrofolate reductase deficiency"]
["DHH","46XY sex reversal 7"]
["DHODH","Miller syndrome"]
["DHTKD1","Charcot-Marie-Tooth disease, axonal, type 2Q"]
["DIABLO","Deafness, autosomal dominant 64"]
["DIAPH1","Deafness, autosomal dominant 1"]
["DIAPH2","Premature ovarian failure 2A"]
["DIAPH3","Auditory neuropathy, autosomal dominant, 1"]
["DICER1","Pleuropulmonary blastoma"]
["DIS3L2","Perlman syndrome"]
["DISP1","Congenital diaphragmatic hernia candidate_DISP1"]
["DKC1","Dyskeratosis congenita, X-linked"]
["DLAT","Pyruvate dehydrogenase E2 deficiency"]
["DLC1","Nephrotic syndrome_DLC1"]
["DLD","Dihydrolipoamide dehydrogenase deficiency"]
["DLG3","Mental retardation, X-linked 90"]
["DLL3","Spondylocostal dysostosis 1, autosomal recessive"]
["DLL4","Adams-Oliver syndrome 6"]
["DLX3","Trichodontoosseous syndrome"]
["DLX5","Split-hand/foot malformation 1 with sensorineural hearing loss"]
["DMBX1","Dominant epilepsy with developmental delay and poor weight gain"]
["DMC1","Premature ovarian failure_DMC1"]
["DMC1","Spermatogenic failure_DMC1"]
["DMD","Cardiomyopathy, dilated, 3B"]
["DMD","Duchenne/Becker"]
["DMGDH","Dimethylglycine dehydrogenase deficiency"]
["DMP1","Hypophosphatemic rickets, autosomal recessive"]
["DMRT1","46XY ovotesticular DSD"]
["DMXL2","Polyendocrine-polyneuropathy syndrome"]
["DMXL2","Deafness, autosomal dominant 71"]
["DNA2","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6"]
["DNA2","Seckel syndrome 8"]
["DNAAF1","Ciliary dyskinesia, primary, 13"]
["DNAAF2","Ciliary dyskinesia, primary, 10"]
["DNAAF3","Ciliary dyskinesia, primary, 2"]
["DNAH1","spermatogenic failure 18 "]
["DNAH1","Ciliary dyskinesia, primary, 37"]
["DNAH11","Ciliary dyskinesia, primary, 7"]
["DNAH5","Ciliary dyskinesia, primary, 3"]
["DNAI1","Ciliary dyskinesia, primary, 1"]
["DNAI2","Ciliary dyskinesia, primary, 9"]
["DNAJB13","Ciliary dyskinesia, primary, 34"]
["DNAJB2","Spinal muscular atrophy, distal, autosomal recessive, 5"]
["DNAJB6","Distal myopathy_DNAJB6"]
["DNAJB6","Muscular dystrophy, limb-girdle, type 1E"]
["DNAJB6","Myopathy, myofibrillar"]
["DNAJC12","Hyperphenylalaninemia, Dystonia, and Intellectual Disability."]
["DNAJC19","3-Methylglutaconic aciduria (other types) V"]
["DNAJC19","Dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies"]
["DNAJC19","Dilated cardiomyopathy with ataxia "]
["DNAJC21","Bone marrow failure syndrome 3"]
["DNAJC21","Schwachman Diamond syndrome 2"]
["DNAJC3","Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus"]
["DNAJC5","Ceroid lipofuscinosis, neuronal, 4"]
["DNAJC6","Parkinson disease 19, juvenile-onset"]
["DNAL1","Ciliary dyskinesia, primary, 16"]
["DNAL4","Mirror movements 3"]
["DNM1","Epileptic encephalopathy, early infantile, 31"]
["DNM1L","Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1"]
["DNM1L","Optic atrophy 5"]
["DNM2","Charcot-Marie-Tooth disease, axonal, type 2M"]
["DNM2","Charcot-Marie-Tooth disease, dominant intermediate B"]
["DNM2","Lethal congenital contracture syndrome 5"]
["DNM2","Myopathy, centronuclear"]
["DNMT1","Neuropathy, hereditary sensory, type IE"]
["DNMT3A","Tatton-Brown-Rahman syndrome"]
["DNMT3A","Epileptic encephalopathy_DNMT3A"]
["DNMT3B","Immunodeficiency-centromeric instability-facial anomalies syndrome 1"]
["DOCK2","Immunodeficiency 40"]
["DOCK6","Adams-Oliver syndrome 2"]
["DOCK7","Epileptic encephalopathy, early infantile, 23 with cortical blindness"]
["DOCK8","Hyper-IgE recurrent infection syndrome, autosomal recessive"]
["DOCK8","Mental retardation, autosomal dominant 2"]
["DOK7","Myasthenic syndrome, congenital, 10"]
["DOLK","Congenital disorder of glycosylation, type Im"]
["DONSON","Microcephaly, short stature, and limb abnormalities"]
["DPAGT1","Congenital disorder of glycosylation, type Ij"]
["DPAGT1","Myasthenic syndrome, congenital, 13, with tubular aggregates"]
["DPH1","Developmental delay with short stature, dysmorphic features, and sparse hair"]
["DPM1","Congenital disorder of glycosylation, type Ie"]
["DPM2","Congenital disorder of glycosylation, type Iu"]
["DPM3","Congenital disorder of glycosylation, type Io"]
["DPP6","Mental retardation, autosomal dominant 33"]
["DPP6","Ventricular fibrillation, paroxysmal familial, 2"]
["DPY19L2","Spermatogenic failure 9"]
["DPYD","Dihydropyrimidine dehydrogenase deficiency"]
["DRAM2","Cone-rod dystrophy 21"]
["DRC1","Ciliary dyskinesia, primary, 21"]
["DSC2","Arrhythmogenic right ventricular dysplasia 11"]
["DSC3","Hypotrichosis and recurrent skin vesicles"]
["DSE","Ehlers-Danlos syndrome, musculocontractural type 2"]
["DSG1","Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE"]
["DSG2","Arrhythmogenic right ventricular dysplasia 10"]
["DSG2","Cardiomyopathy, dilated, 1BB"]
["DSG4","Hypotrichosis 6"]
["DSG4","Hypotrichosis, localized, autosomal recessive"]
["DSP","Arrhythmogenic right ventricular dysplasia 8"]
["DSP","Dilated cardiomyopathy with woolly hair and keratoderma"]
["DSP","Epidermolysis bullosa, lethal acantholytic"]
["DSPP","Deafness, autosomal dominant 39, with dentinogenesis"]
["DSPP","Dentin dysplasia, type II"]
["DST","Epidermolysis bullosa simplex, autosomal recessive 2"]
["DST","Neuropathy, hereditary sensory and autonomic, type VI"]
["DSTYK","Autosomal-Recessive complicated spastic paraparesis"]
["DSTYK","Congenital anomalies of kidney and urinary tract, susceptibility to"]
["DSTYK","Spastic paraplegia 23"]
["DTHD1","Leber congenital amaurosis_DHDT1"]
["DTNA","Left ventricular noncompaction 1, with or without congenital heart defects"]
["DTNBP1","Hermansky-Pudlak syndrome 7"]
["DUOX2","Thyroid dyshormonogenesis 6"]
["DUOXA2","Thyroid dyshormonogenesis 5"]
["DUSP6","Hypogonadotropic hypogonadism 19 with or without anosmia"]
["DVL1","Robinow syndrome, autosomal dominant 2"]
["DVL3","Robinow syndrome, autosomal dominant 3"]
["DYM","Dyggve-Melchior-Clausen syndrome"]
["DYM","Smith-McCort dysplasia 1"]
["DYNC1H1","Charcot-Marie-Tooth disease, axonal, type 2O"]
["DYNC1H1","Mental retardation, autosomal dominant 13"]
["DYNC1H1","Spinal muscular atrophy, dominant, proximal 1"]
["DYNC2H1","Short rib-polydactyly syndrome, type 3"]
["DYNC2LI1","Short-rib throacic dysplasia 15 with polydactyly"]
["DYNC2LI1","Ellis-van Creveld syndrome_DYNC2LI1"]
["DYRK1A","Mental retardation, autosomal dominant 7"]
["DYSF","Muscular dystrophy, limb-girdle, type 2B"]
["DYSF","Myopathy, distal, with anterior tibial onset (Myoshi)"]
["DYX1C1","Ciliary dyskinesia, primary, 25"]
["EARS2","Combined oxidative phosphorylation deficiency 12"]
["EBF3","ENCEPHALOPATHY, ATAXIA"]
["EBP","Chondrodysplasia punctata, X-linked dominant"]
["ECE1","Hirschsprung disease, cardiac defects, and autonomic dysfunction"]
["ECEL1","Arthrogryposis, distal, type 5D"]
["ECHS1","Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"]
["ECM1","Lipid proteinosis / Urbach-Wiethe disease"]
["EDA","Ectodermal dysplasia 1, hypohidrotic, X-linked"]
["EDA","Tooth agenesis, selective, X-linked 1"]
["EDAR","Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"]
["EDAR","Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"]
["EDARADD","Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant"]
["EDC3","Mental retardation, autosomal recessive 50"]
["EDN1","Auriculocondylar syndrome 3"]
["EDN3","Waardenburg syndrome, type 4B"]
["EDN3","Hirschsprung disease, susceptibility to, 4"]
["EDNRA","Mandibulofacial Dysostosis with Alopecia"]
["EDNRB","Waardenburg syndrome, type 4A"]
["EDNRB","Hirschsprung disease, susceptibility to, 2"]
["EEF1A2","Epileptic encephalopathy, early infantile, 33"]
["EEF1A2","Mental retardation, autosomal dominant 38"]
["EEF1A2","dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death"]
["EEF2","Spinocerebellar ataxia 26"]
["EFEMP1","Doyne honeycomb degeneration of retina"]
["EFEMP2","Cutis laxa, autosomal recessive, type IB"]
["EFNB1","Craniofrontonasal dysplasia"]
["EFTUD2","Mandibulofacial dysostosis, Guion-Almeida type"]
["EGF","Hypomagnesemia 4, renal"]
["EGFR","Familial Lung Cancer_EGFR"]
["EGLN1","Erythrocytosis, familial, 3"]
["EGR2","Charcot-Marie-Tooth disease, type 1D"]
["EGR2","Charcot-Marie-Tooth disease, type 4E"]
["EHHADH","Fanconi renotubular syndrome 3"]
["EHMT1","Kleefstra syndrome"]
["EIF2AK3","Wolcott-Rallison dysplasia"]
["EIF2AK3","Wolcott-Rallison syndrome"]
["EIF2AK4","Pulmonary venoocclusive disease 2"]
["EIF2B1","Leukoencephalopathy with vanishing white matter 1"]
["EIF2B2","Leukoencephalopathy with vanishing white matter 2"]
["EIF2B3","Leukoencephalopathy with vanishing white matter 3"]
["EIF2B4","Leukoencephalopathy with vanishing white matter 4"]
["EIF2B5","Leukoencephalopathy with vanishing white matter 5"]
["EIF2S3","Mental retardation, X-linked syndromic (MEHMO)"]
["EIF4A3","Robin sequence with cleft mandible and limb anomalies"]
["EIF4G1","Parkinson disease 18"]
["EIF4H","Williams syndrome critical region_EIF4H"]
["ELAC2","Combined oxidative phosphorylation deficiency 17"]
["ELANE","Neutropenia, severe congenital 1, autosomal dominant"]
["ELMO2","Autosomal-recessive intraosseous vascular malformations "]
["ELMOD2","Pulmonary fibrosis, idiopathic, susceptibility to_ELMOD2"]
["ELMOD3","Deafness, autosomal recessive 88"]
["ELN","Aortic supravalvular stenosis"]
["ELN","Cutis laxa, AD"]
["ELN","Cutis laxa, autosomal dominant"]
["ELOVL4","Spinocerebellar ataxia 34"]
["ELOVL4","Stargardt disease 3"]
["ELOVL5","Spinocerebellar ataxia 38"]
["ELP2","Mental retardation, autosomal recessive 58"]
["ELP4","Aniridia 2"]
["EMC1","Cerebellar atrophy, visual impairment, and psychomotor retardation"]
["EMD","Emery-Dreifuss muscular dystrophy 1, X-linked"]
["EMG1","Bowen-Conradi syndrome"]
["EML1","Band heterotopia"]
["EMP2","Nephrotic syndrome, type 10"]
["EMX2","Disorders of sex development_EMX2"]
["ENAM","Amelogenesis imperfecta, type IB"]
["ENAM","Amelogenesis imperfecta, type IC"]
["ENG","Telangiectasia, hereditary hemorrhagic, type 1"]
["ENO3","Glycogen storage disease XIII"]
["ENPP1","Cole disease"]
["ENPP1","Hypophosphatemic rickets, autosomal recessive, 2"]
["ENTPD1","Spastic paraplegia 64"]
["EOGT","Adams-Oliver syndrome 4"]
["EP300","Rubinstein-Taybi syndrome 2"]
["EPAS1","Erythrocytosis, familial, 4"]
["EPB41","Elliptocytosis-1"]
["EPB41L1","Mental retardation, autosomal dominant 11"]
["EPB42","Hereditary spherocytosis type 5"]
["EPCAM","Colorectal cancer, hereditary nonpolyposis, type 8"]
["EPCAM","Diarrhea 5, with tufting enteropathy, congenital"]
["EPG5","Vici syndrome"]
["EPHA2","Cataract 6, multiple types"]
["EPHB4","Hydrops fetalis, nonimmune, and/or atrial septal defect"]
["EPHB4","Capillary malformation_EPHB4"]
["EPHX1","Hypercholanemia, familial 2"]
["EPM2A","Epilepsy, progressive myoclonic 2A (Lafora)"]
["EPO","Erythrocytosis, familial, 5"]
["EPO","Diamond-Blackfan anemia-like"]
["EPOR","Erythrocytosis, familial, 1"]
["EPS8","Deafness, autosomal recessive 102"]
["EPT1","Spastic paraplegia due to Kennedy pathway phospholipid biosynthesis."]
["ERBB3","Lethal congenital contracture syndrome 2"]
["ERBB4","Amyotrophic lateral sclerosis 19"]
["ERBB4","Hirschsprung_candidate_ERBB4"]
["ERCC1","Cerebrooculofacioskeletal syndrome 4"]
["ERCC2","Cerebrooculofacioskeletal syndrome 2"]
["ERCC2","Trichothiodystrophy, nonphotosensitive 1"]
["ERCC2","Xeroderma pigmentosum, group D"]
["ERCC3","Trichothiodystrophy, nonphotosensitive 2"]
["ERCC3","Xeroderma pigmentosum, group B"]
["ERCC4","Fanconi anemia, complementation group Q"]
["ERCC4","Xeroderma pigmentosum, group F"]
["ERCC5","Cerebrooculofacioskeletal syndrome 3"]
["ERCC5","Xeroderma pigmentosum, group G"]
["ERCC6","Cerebrooculofacioskeletal syndrome 1"]
["ERCC6","Cockayne syndrome, type B"]
["ERCC6","Macular degeneration, age-related, 5"]
["ERCC6","Premature ovarian failure 11"]
["ERCC6","UV-sensitive syndrome 1"]
["ERCC6L2","Bone marrow failure syndrome 2"]
["ERCC8","Cockayne syndrome, type A"]
["ERCC8","UV-sensitive syndrome 2"]
["ERF","Craniosynostosis 4"]
["ERLIN1","Spastic paraplegia 62, autosomal recessive"]
["ERLIN2","Spastic paraplegia 18"]
["ERMAP","Radin blood groups"]
["ERMAP","Sciana blood groups"]
["ESCO2","Roberts Syndrome"]
["ESPN","Deafness, autosomal recessive 36"]
["ESR1","Estrogen resistance_ESR1"]
["ESR2","Estrogen resistance_ESR2"]
["ESRRB","Deafness, autosomal recessive 35"]
["ETFA","Glutaric acidemia IIA"]
["ETFB","Glutaric acidemia IIB"]
["ETFDH","Glutaric acidemia IIC"]
["ETHE1","Ethylmalonic encephalopathy"]
["ETV6","Thrombocytopenia 5"]
["ETV6","Leukemia, Acute Myeloid, Familial 3"]
["EVC","Ellis-van Creveld syndrome"]
["EVC","Weyers acrofacial dysostosis 1"]
["EVC2","Weyers acrofacial dysostosis 2"]
["EVC2","Ellis-van Creveld syndrome_EVC2"]
["EXOSC2","Short stature, hearing loss, retinitis pigmentosa, and distinctive facies"]
["EXOSC3","Pontocerebellar hypoplasia, type 1B"]
["EXOSC3","SMA + cerebellar hypoplasia_EXOSC3"]
["EXOSC8","Pontocerebellar hypoplasia, type 1C"]
["EXPH5","Epidermolysis bullosa, nonspecific, autosomal recessive"]
["EXT1","Hereditary multiple exostoses, type I"]
["EXT2","Hereditary multiple exostoses, type II"]
["EXTL3","IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES"]
["EYA1","Brachiootic syndrome 1"]
["EYA1","Branchiootic syndrome 1"]
["EYA1","Otofaciocervical syndrome"]
["EYA4","Cardiomyopathy, dilated, 1J"]
["EYA4","Deafness, autosomal dominant 10"]
["EYS","Retinitis pigmentosa 25"]
["EZH2","Weaver syndrome 1"]
["F10","Factor X deciciency"]
["F11","Factor XI deficiency"]
["F12","Factor XII deficiency"]
["F13A1","Factor 13A deficiency"]
["F13B","Factor 13B deficiency"]
["F2","Hypoprothrombinemia / Dysprothrombinemia"]
["F5","Factor V deficiency"]
["F7","Factor VII deficiency"]
["F8","Hemophilia A"]
["F9","Hemophilia B"]
["FA2H","Fatty Acid Hydroxylase Neurodegeneration"]
["FA2H","Spastic paraplegia 35"]
["FADD","Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations"]
["FAH","Tyrosinemia, type I"]
["FAM105B","Autoinflammation, panniculitis, and dermatosis syndrome"]
["FAM111A","Kenny-Caffey syndrome, type 2"]
["FAM111B","Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis"]
["FAM126A","Leukodystrophy, hypomyelinating, 5"]
["FAM134B","Neuropathy, hereditary sensory and autonomic, type IIB"]
["FAM161A","Retinitis pigmentosa 28"]
["FAM177A1","Macrocephaly, intellectual disability, dolichocephaly, mild obesity"]
["FAM189A2","Deafness, autosomal dominant 51_FAM189A2"]
["FAM20A","Amelogenesis imperfecta type IG and gingival fibromatosis syndrome"]
["FAM20C","Raine syndrome"]
["FAM58A","STAR syndrome"]
["FAM65B","Deafness, autosomal recessive 104"]
["FAM83H","Amelogenesis imperfecta, type III"]
["FAN1","Hereditary Colorectal Cancer"]
["FAN1","Interstitial nephritis, karyomegalic"]
["FANCA","Fanconi anemia, complementation group A"]
["FANCB","Fanconi anemia, complementation group B"]
["FANCC","Fanconi anemia, complementation group C"]
["FANCD2","Fanconi anemia, complementation group D2"]
["FANCE","Fanconi anemia, complementation group E"]
["FANCF","Fanconi anemia, complementation group F"]
["FANCG","Fanconi anemia, complementation group G"]
["FANCI","Fanconi anemia, complementation group I"]
["FANCL","Fanconi anemia, complementation group L"]
["FANCM","Fanconi anemia, complementation group M"]
["FANCM","Spermatogenic failure 28"]
["FANCM","Premature ovarian failure 15"]
["FAR1","Peroxisomal fatty acyl-CoA reductase 1 disorder"]
["FARS2","Combined oxidative phosphorylation deficiency 14"]
["FARS2","Spastic paraplegia 77"]
["FARSB","Multi-system Pulmonary Disease"]
["FAS","Autoimmune lymphoproliferative syndrome, type 1a"]
["FASLG","Autoimmune lymphoproliferative syndrome, type IB"]
["FASTKD2","Mitochondrial complex IV deficiency_FASTKD2"]
["FAT2","Spinocerebellar ataxia 45"]
["FAT4","Hennekam lymphangiectasia-lymphedema syndrome 2"]
["FAT4","Van Maldergem syndrome 2"]
["FBLIM1","chronic recurrent multifocal osteomyelitis"]
["FBLN1","Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses"]
["FBLN5","Charcot-Marie-Tooth disease, type 1"]
["FBLN5","Cutis laxa, autosomal dominant 2"]
["FBLN5","Cutis laxa, autosomal recessive, type IA"]
["FBLN5","Macular degeneration, age-related, 3"]
["FBN1","Marfan syndrome"]
["FBN1","Weill-Marchesani syndrome 2, dominant"]
["FBN1","Geleophysic dysplasia 2"]
["FBN2","Contractural arachnodactyly, congenital"]
["FBP1","Fructose-1,6-bidphosphatase deficiency"]
["FBXL4","Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)"]
["FBXO11","intellectual developmental disorder with dysmorphic facies and behavioral abnormalities"]
["FBXO31","Mental retardation, autosomal recessive 45"]
["FBXO38","Neuronopathy, distal hereditary motor, type IID"]
["FBXO7","Parkinson disease 15, autosomal recessive"]
["FCGR3A","Immunodeficiency 20"]
["FCN3","Immunodeficiency due to ficolin 3 deficiency"]
["FECH","Protoporphyria, erythropoietic, autosomal recessive"]
["FERMT1","Kindler syndrome"]
["FERMT3","Leukocyte adhesion deficiency, type III"]
["FEZF1","Hypogonadotropic hypogonadism 22 with or without anosmia"]
["FGA","Afibrinogenemia, congenital 1"]
["FGA","Amyloidosis, 3 or more types"]
["FGA","Dysfibrinogenemia, congenital 1"]
["FGB","Dysfibrinogenemia, congenital 2"]
["FGB","Afibrinogenemia, congenital 2"]
["FGD1","Aarskog-Scott syndrome"]
["FGD1","Mental retardation, X-linked syndromic 16 / Aarskog-Scott syndrome"]
["FGD3","Glucocorticoid deficiency 3"]
["FGD4","Charcot-Marie-Tooth disease, type 4H"]
["FGF10","LADD syndrome_FGF10"]
["FGF12","Epileptic encephalopathy, early infantile, 47"]
["FGF14","Spinocerebellar ataxia 27"]
["FGF16","Metacarpal 4-5 fusion"]
["FGF17","Hypogonadotropic hypogonadism 20 with or without anosmia"]
["FGF20","Renal hypodysplasia/aplasia 2"]
["FGF23","Hypophosphatemic rickets, autosomal dominant"]
["FGF23","Tumoral calcinosis, hyperphosphatemic, familial 1"]
["FGF3","Deafness with microtia and microdontia"]
["FGF8","Hypogonadotropic hypogonadism 6 with or without anosmia"]
["FGF9","Multiple synostoses syndrome 3"]
["FGF9","Disorders of sex development_FGF9"]
["FGFR1","Hypogonadotropic hypogonadism 2 with or without anosmia"]
["FGFR1","Jackson-Weiss syndrome, Pfeiffer syndrome, Trigonocephaly 1"]
["FGFR2","Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome"]
["FGFR2","LADD syndrome_FGFR2"]
["FGFR3","Achondroplasia"]
["FGFR3","Muenke syndrome"]
["FGFR3","Thanatophoric dysplasia, type I, type 2"]
["FGFR3","LADD syndrome_FGFR3"]
["FGG","Dysfibrinogenemia, congenital 3"]
["FGG","Afibrinogenemia, congenital 3"]
["FH","Leiomyomatosis and renal cell cancer"]
["FHL1","Emery-Dreifuss muscular dystrophy 6, X-linked"]
["FHL1","Scapuloperoneal myopathy, X-linked dominant"]
["FHL1","X-linked myopathy with postural muscle atrophy (XMPMA)"]
["FIBP","Thauvin-Robinet-Faivre syndrome"]
["FIG4","Amyotrophic lateral sclerosis 11"]
["FIG4","Charcot-Marie-Tooth disease, type 4J"]
["FIGLA","Premature ovarian failure 6"]
["FITM2","deafness-dystonia syndrome"]
["FKBP10","Osteogenesis imperfecta, type XI"]
["FKBP14","Ehlers Danlos with myopathy"]
["FKBP14","Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss"]
["FKRP","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5, B5, C5"]
["FKRP","Muscular dystrophy, limb-girdle, type 2I"]
["FKTN","Cardiomyopathy, dilated, 1X"]
["FKTN","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4, B4, C4"]
["FKTN","Muscular dystrophy, limb-girdle, type 2M"]
["FLCN","Birt-Hogg-Dube syndrome"]
["FLG","Ichthyosis vulgaris"]
["FLI1","Bleeding disorder, platelet-type, 21"]
["FLNA","Cardiac valvular dysplasia, X-linked"]
["FLNA","Ehlers-Danlos syndrome and periventricular nodular heterotopia"]
["FLNA","FG syndrome 2"]
["FLNA","FLNA related thrombocytopenia"]
["FLNA","Frontometaphyseal dysplasia 1"]
["FLNA","Periventricular nodular heterotopia 1"]
["FLNA","Congenital short bowel syndrome_FLNA"]
["FLNB","Atelosteogenesis, type I, type III"]
["FLNC","Cardiomyopathy, familial hypertrophic, 26"]
["FLNC","Cardiomyopathy, familial restrictive 5"]
["FLNC","Myopathy, distal, 4"]
["FLNC","Myopathy, myofibrillar, 5"]
["FLRT1","Spastic paraplegia 68, autosomal recessive"]
["FLRT3","Hypogonadotropic hypogonadism 21 with anosmia"]
["FLT4","Lymphedema, hereditary, IA"]
["FLVCR1","Ataxia, posterior column, with retinitis pigmentosa"]
["FLVCR2","Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome"]
["FMN2","Mental retardation, autosomal recessive 47"]
["FMO3","Trimethylaminuria"]
["FMR1","Premature ovarian failure 1"]
["FN1","Glomerulopathy with fibronectin deposits 2"]
["FN1","Spondylometaphyseal Dysplasia with Corner Fractures"]
["FOLR1","Neurodegeneration due to cerebral folate transport deficiency"]
["FOLR1","Neurodegeneration due to folate transport deficiency"]
["FOXC1","Axenfeld-Rieger syndrome, type 3"]
["FOXC2","Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus"]
["FOXE1","Bamforth-Lazarus syndrome"]
["FOXE3","Anterior segment mesenchymal dysgenesis / aphakia 2"]
["FOXE3","Aortic aneurysm, familial thoracic 11, susceptibility to"]
["FOXE3","Cataract 34, multiple types"]
["FOXF1","Alveolar capillary dysplasia with misalignment of pulmonary veins"]
["FOXG1","Rett syndrome, congenital variant"]
["FOXH1","Heterotaxy_FOXH1"]
["FOXI1","Enlarged vestibular aqueduct"]
["FOXL2","Blepharophimosis, epicanthus inversus, and ptosis, type 2"]
["FOXL2","Premature ovarian failure 3"]
["FOXN1","T-cell immunodeficiency, congenital alopecia, and nail dystrophy"]
["FOXP1","Mental retardation with language impairment and autistic features"]
["FOXP2","Speech-language disorder-1"]
["FOXP3","Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked"]
["FOXRED1","Leigh syndrome due to mitochondrial complex I deficiency_FOXRED1"]
["FOXRED1","Mitochondrial complex I deficiency_FOXRED1"]
["FPR1","Immunodeficiency_FPR1"]
["FRAS1","Fraser syndrome 1"]
["FREM1","Bifid nose with or without anorectal and renal anomalies"]
["FREM1","Manitoba oculotrichoanal syndrome / trignocephaly"]
["FREM2","Fraser syndrome 2"]
["FRMD7","Nystagmus 1, congenital, X-linked"]
["FRMPD4","Mental retardation, X-linked 104"]
["FRRS1L","Epileptic encephalopathy, early infantile, 37"]
["FSCN2","Retinitis pigmentosa 30"]
["FSHB","Follicle-stimulating hormone deficiency, isolated"]
["FSHR","Ovarian dysgenesis 1"]
["FTCD","Glutamate formiminotransferase deficiency"]
["FTH1","Hemochromatosis, type 5"]
["FTL","Neurodegeneration with brain iron accumulation 3 (Neuroferritinopathy)"]
["FTO","Growth retardation, developmental delay, coarse facies, and early death"]
["FTSJ1","Mental retardation, X-linked 9"]
["FUCA1","Fucosidosis"]
["FUS","Amyotrophic lateral sclerosis 6"]
["FUS","Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia"]
["FUT1","Bombay phenotype"]
["FUT3","Lewis group"]
["FUT8","Congenital disorder of glycosylation with defective fucosylation"]
["FXN","Friedreich ataxia"]
["FXYD2","Hypomagnesemia 2, renal"]
["FYCO1","Cataract 18, autosomal recessive"]
["FZD4","Exudative vitreoretinopathy 1"]
["FZD6","Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)"]
["G6PC","Glycogen storage disease Ia"]
["G6PC3","Dursun syndrome"]
["G6PC3","Neutropenia, severe congenital 4, autosomal recessive"]
["G6PD","Hemolytic anemia due to G6PD deficiency"]
["GAA","Glycogen storage disease II"]
["GAA","Muscular dystrophy, limb-girdle, type 2V"]
["GABBR2","Epileptic encephalopathy, early infantile, 59"]
["GABBR2","Neurodevelopmental disorder with poor language and loss of hand skills"]
["GABRA1","Epileptic encephalopathy, early infantile, 19"]
["GABRB1","Epileptic encephalopathy, early infantile, 45"]
["GABRB3","Epileptic encephalopathy, early infantile, 43"]
["GABRD","Epilepsy, generalized, with febrile seizures plus, type 5"]
["GABRG2","Epilepsy, generalized, with febrile seizures plus, type 3"]
["GABRG2","Febrile seizures, familial, 8"]
["GAD1","Cerebral palsy, spastic quadriplegic, 1"]
["GAL","Epilepsy, familial temporal lobe, 8"]
["GALC","Krabbe"]
["GALE","Galactose epimerase deficiency"]
["GALK1","Galactokinase deficiency with cataracts"]
["GALNS","Mucopolysaccharidosis IVA (Morquio syndrome A)"]
["GALNT3","Tumoral calcinosis, hyperphosphatemic, familial 2"]
["GALT","Galactosemia"]
["GAMT","Cerebral creatine deficiency syndrome 2"]
["GAN","Giant axonal neuropathy-1"]
["GANAB","Polycyctic kidney disease 3"]
["GARS","Charcot-Marie-Tooth disease, axonal, type 2D"]
["GARS","Neuronopathy, distal hereditary motor, type VA"]
["GARS","Neuropathy, distal hereditary motor, type VA"]
["GAS1","Brain malformation_GAS1"]
["GATA1","Anemia, X-linked, with/without neutropenia and/or platelet abnormalities"]
["GATA1","Thrombocytopenia with beta-thalassemia, X-linked"]
["GATA1","Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"]
["GATA2","Emberger syndrome"]
["GATA2","Immunodeficiency 21"]
["GATA2","CAKUT 3"]
["GATA2","Leukemia, Acute Myeloid, Familial 4"]
["GATA3","Hypoparathyroidism, sensorineural deafness, and renal dysplasia"]
["GATA4","Atrial septal defect 2"]
["GATA4","Atrioventricular septal defect 4"]
["GATA4","Testicular anomalies with or without congenital heart disease"]
["GATA4","Tetrology of Fallot"]
["GATA4","Ventricular septal defect 1"]
["GATA4","Tetralogy of Fallot 2"]
["GATA5","Congenital heart defects, multiple types, 5"]
["GATA6","Atrial septal defect 9"]
["GATA6","Atrioventricular septal defect 5"]
["GATA6","Conotruncal heart malformations_GATA6"]
["GATA6","Pancreatic agenesis and congenital heart defects"]
["GATA6","Tetralogy of Fallot 3"]
["GATAD1","Cardiomyopathy, dilated, 2B"]
["GATAD2B","Mental retardation, autosomal dominant 18"]
["GATM","Cerebral creatine deficiency syndrome 3"]
["GBA","Gaucher"]
["GBA","Parkinson disease, late-onset, susceptibility to"]
["GBA2","Spastic paraplegia 46, autosomal recessive"]
["GBE1","Glycogen storage disease IV"]
["GCDH","Glutaricaciduria, type I"]
["GCH1","Dystonia 5, Dopa responsive dystonia"]
["GCH1","Hyperphenylalaninemia, BH4-deficient, B"]
["GCK","Hyperinsulinemic hypoglycemia, familial, 3"]
["GCK","Maturity-onset diabetes of the young, type II"]
["GCLC","Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"]
["GCM2","Familial Isolated Hyperparathyroidism"]
["GCM2","Hypoparathyroidism, familial isolated"]
["GCNT2","Cataract 13 with adult i phenotype"]
["GCNT2","Ii antigens"]
["GCSH","Glycine encephalopathy_GCSH"]
["GDAP1","Charcot-Marie-Tooth disease, axonal, type 2K"]
["GDAP1","Charcot-Marie-Tooth disease, recessive intermediate, A"]
["GDAP1","Charcot-Marie-Tooth disease, type 4A"]
["GDF1","Tetralogy of Fallot 1"]
["GDF1","Transposition of the great arteries, dextro-looped 3"]
["GDF1","Conotruncal heart malformations_GDF1"]
["GDF2","Telangiectasia, hereditary hemorrhagic, type 5"]
["GDF3","Klippel-Feil syndrome 3, autosomal dominant"]
["GDF3","Microphthalmia with coloboma 6"]
["GDF3","Microphthalmia, isolated 7"]
["GDF5","Acromesomelic dysplasia, Hunter-Thompson type"]
["GDF5","Brachydactyly / du pan syndrome/ multiple synostoses"]
["GDF5","Chondrodysplasia, Grebe type"]
["GDF5","Multiple synostoses syndrome 2"]
["GDF6","Klippel-Feil syndrome 1, autosomal dominant"]
["GDF6","Leber congenital amaurosis 17"]
["GDF6","Microphthalmia, isolated 4"]
["GDF9","Premature ovarian failure 14"]
["GDI1","Mental retardation, X-linked 41"]
["GDNF","CAKUT 4"]
["GDNF","Central hypoventilation 2"]
["GDNF","Hirschsprung disease, susceptibility to, 3"]
["GEMIN4","Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"]
["GFAP","Alexander disease"]
["GFER","Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay"]
["GFI1","Neutropenia, severe congenital 2, autosomal dominant"]
["GFI1B","Bleeding disorder, platelet-type, 17"]
["GFM1","Combined oxidative phosphorylation deficiency 1"]
["GFPT1","Myasthenia, congenital, 12, with tubular aggregates"]
["GGCX","Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"]
["GH1","Growth hormone deficiency, isolated, type IA, 1B, II"]
["GH1","Kowarski syndrome"]
["GHR","Laron dwarfism"]
["GHRH","Gigantism due to GHRF hypersecretion"]
["GHSR","short stature"]
["GIF","Intrinsic factor deficiency"]
["GIPC3","Deafness, autosomal recessive 15"]
["GJA1","Atrioventricular septal defect 3"]
["GJA1","Craniometaphyseal dysplasia, autosomal recessive"]
["GJA1","Hypoplastic left heart syndrome 1"]
["GJA1","Erythrokeratodermia variabilis et progressiva"]
["GJA3","Cataract 14, multiple types"]
["GJA5","Atrial fibrillation, familial, 11"]
["GJA8","Cataract 1, multiple types"]
["GJB1","Charcot-Marie-Tooth neuropathy, X-linked dominant, 1"]
["GJB2","Deafness, autosomal dominant 3A"]
["GJB2","Deafness, autosomal recessive 1A"]
["GJB3","Deafness, autosomal dominant 2B"]
["GJB3","Deafness, autosomal dominant, with peripheral neuropathy"]
["GJB3","Deafness, digenic, GJB2/GJB3"]
["GJB3","Erythrokeratodermia variabilis et progressiva 1"]
["GJB4","Erythrokeratodermia variabilis et progressiva 2"]
["GJB6","Deafness, autosomal dominant 3B"]
["GJB6","Deafness, autosomal recessive 1B"]
["GJB6","Ectodermal dysplasia 2, Clouston type"]
["GJC2","Leukodystrophy, hypomyelinating, 2"]
["GJC2","Lymphedema, hereditary, IC"]
["GJC2","Spastic paraplegia 44"]
["GK","Glycerol kinase deficiency"]
["GLA","Fabry disease"]
["GLA","Fabry disease, cardiac variant"]
["GLB1","GM1 gangliosidosis"]
["GLB1","Mucopolysaccharidosis type IVB (Morquio)"]
["GLDC","Glycine encephalopathy_GLDC"]
["GLDN","Lethal Arthrogryposis"]
["GLDN","Lethal congenital contracture syndrome 11"]
["GLE1","Arthrogryposis, lethal, with anterior horn cell disease"]
["GLE1","Lethal congenital contracture syndrome 1"]
["GLI1","Ellis-van Creveld syndrome_GLI1"]
["GLI2","Holoprosencephaly-9"]
["GLI3","Greig cephalopolysyndactyly syndrome"]
["GLIS2","Nephronophthisis 7"]
["GLIS3","Diabetes mellitus, neonatal, with congenital hypothyroidism"]
["GLMN","Glomuvenous malformations"]
["GLRA1","Hyperekplexia, hereditary 1"]
["GLRB","Hyperekplexia 2"]
["GLRX5","Anemia, sideroblastic 3, pyridoxine-refractory, autosomal recessive"]
["GLUD1","Hyperinsulinism-hyperammonemia syndrome"]
["GLUD1","Hyperinsulinism-hyperammonemia syndrome, 6"]
["GLUL","Glutamine deficiency, congenital"]
["GLYCTK","D-glyceric aciduria"]
["GM2A","AB Variant  (GM2 gangliosidoses)"]
["GM2A","GM2 gangliosidosis AB variant"]
["GMNN","Meier-Gorlin syndrome 6"]
["GMPPA","Alacrima, achalasia, and mental retardation syndrome"]
["GMPPB","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14, B14, C14"]
["GMPPB","Muscular dystrophy, limb-girdle, type 2T"]
["GNA11","Hypocalciuric hypercalcemia, type II"]
["GNA14","Congenital and Sporadic Vascular Tumors"]
["GNAI3","Auriculocondylar syndrome 1"]
["GNAL","Dystonia 25"]
["GNAO1","Epileptic encephalopathy, early infantile, 17"]
["GNAO1","Neurodevelomental disorder with Iinvoluntary movements; NEDIM"]
["GNAQ","Sturge-Weber syndrome"]
["GNAS","ACTH-independent macronodular adrenal hyperplasia"]
["GNAS","McCune-Albright syndrome"]
["GNAS","Pseudohypoaldosteronism, type IA"]
["GNAS","Pseudohypoaldosteronism, type IC"]
["GNAS","Pseudohypoparathyroidism, type IB_GNAS"]
["GNAT1","Night blindness, congenital stationary, autosomal dominant 3"]
["GNAT1","Night blindness, congenital stationary, type 1G"]
["GNAT2","Achromatopsia 4"]
["GNB1","Mental retardation, autosomal dominant 42"]
["GNB3","Night blindness, congenital stationary, autosomal recessive"]
["GNB3","Night blindness, congenital stationary, type 1H"]
["GNB4","Charcot-Marie-Tooth disease, dominant intermediate F"]
["GNB5","Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia"]
["GNE","CDG candidate"]
["GNE","Inclusion body myopathy, autosomal recessive, 2 (Nonaka)"]
["GNMT","Glycine N-methyltransferase deficiency"]
["GNPAT","Chondrodysplasia punctata, rhizomelic, type 2"]
["GNPAT","Rhizomelic chondrodysplasia punctata, type 2"]
["GNPTAB","I cell disease / Mucolipidosis II alpha/beta"]
["GNPTG","Mucolipidosis III gamma"]
["GNRH1","Hypogonadotropic hypogonadism 12 with or without anosmia"]
["GNRHR","Hypogonadotropic hypogonadism 7 with or without anosmia"]
["GNS","Mucopolysaccharidosis type IIID / San Filippo syndrome D"]
["GORAB","Geroderma osteodysplasticum"]
["GOSR2","Epilepsy, progressive myoclonic 6"]
["GP1BA","Bernard Soulier syndrome, type A1 (recessive), type A2 (dominant) "]
["GP1BB","Bernard Soulier syndrome, type B"]
["GP6","Bleeding disorder, platelet-type, 11"]
["GP9","Bernard Soulier syndrome, type C"]
["GPC3","Simpson-Golabi-Behmel syndrome, type 1"]
["GPC6","Omodysplasia 1"]
["GPD1","Hypertriglyceridemia, transient infantile"]
["GPD1L","Brugada syndrome 2"]
["GPHN","Molybdenum cofactor deficiency C"]
["GPI","Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency"]
["GPNMB","Autosomal-Recessive Amyloidosis Cutis Dyschromica"]
["GPR125","Retinitis pigmentosa (autosomal recessive)"]
["GPR125","Retinitis pigmentosa_GPR125"]
["GPR126","Lethal congenital contracture syndrome 9"]
["GPR143","Nystagmus 6, congenital, X-linked"]
["GPR143","Ocular albinism, type I"]
["GPR179","Night blindness, congenital stationary (complete), 1E, autosomal recessive"]
["GPR56","Polymicrogyria, bilateral frontoparietal"]
["GPR64","X-Linked congenital bilateral absence of Vas Deferens"]
["GPR68","Amelogenesis imperfecta, hypomaturation type, IIA6"]
["GPR98","Febrile seizures, familial, 4"]
["GPR98","Usher syndrome, type 2C"]
["GPRASP2","HEARING LOSS-X-LINKED SYNDROMIC"]
["GPSM2","Chudley-McCullough syndrome"]
["GPSM2","Deafness, autosomal recessive 82/ Chudley-McCullough syndrome"]
["GPT2","Mental retardation, autosomal recessive 49"]
["GPX1","Hemolytic anemia due to glutathione peroxidase deficiency"]
["GPX4","Spondylometaphyseal dysplasia, Sedaghatian type"]
["GREM1","Hereditary mixed Polyposis"]
["GREM1","GREM1 related colon cancer"]
["GREM2","Tooth agenesis, selective, 9"]
["GRHL2","Deafness, autosomal dominant 28"]
["GRHL2","Corneal dystrophy, posterior polymorphous, 4"]
["GRHL3","Van der Woude syndrome 2"]
["GRHPR","Hyperoxaluria, primary, type II"]
["GRIA3","Mental retardation, X-linked 94"]
["GRID2","Ataxia-oculomotor apraxia 5"]
["GRID2","Spinocerebellar ataxia, autosomal recessive 18"]
["GRIK2","Mental retardation, autosomal recessive, 6"]
["GRIN1","Mental retardation, autosomal dominant 8"]
["GRIN1","Autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures"]
["GRIN2A","Early infantile epilepsy with encephalopathy"]
["GRIN2B","Epileptic encephalopathy, early infantile, 27"]
["GRIN2B","Mental retardation, autosomal dominant 6"]
["GRIN2D","Epileptic encephalopathy, early infantile, 46"]
["GRIP1","Fraser syndrome 3"]
["GRK1","Oguchi disease-2"]
["GRM1","Spinocerebellar ataxia, autosomal recessive 13"]
["GRM1","Spinocerebellar ataxia 44"]
["GRM6","Night blindness, congenital stationary (complete), 1B, autosomal recessive"]
["GRN","Ceroid lipofuscinosis, neuronal, 11"]
["GRN","Frontotemporal lobar degeneration with ubiquitin-positive inclusions"]
["GRXCR1","Deafness, autosomal recessive 25"]
["GRXCR2","Deafness, autosomal recessive 101"]
["GSC","Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities"]
["GSN","Amyloidosis, Finnish type"]
["GSS","Glutathione synthetase deficiency"]
["GSS","Hemolytic anemia due to glutathione synthetase deficiency"]
["GSTZ1","Tyrosinemia, type Ib"]
["GSTZ1","Maleylacetoacetate isomerase deficiency"]
["GTDC2","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8"]
["GTF2E2","Trichothiodystrophy 6, nonphotosensitive"]
["GTF2H3","Spermatogenic failure_GTF2H3"]
["GTF2H5","Trichothiodystrophy 3, photosensitive"]
["GTPBP3","Combined oxidative phosphorylation deficiency 23"]
["GTPBP3","Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy"]
["GUCA1A","Cone dystrophy 3"]
["GUCA1B","Retinitis pigmentosa 48"]
["GUCY1A3","Moyamoya 6 with achalasia"]
["GUCY2C","Diarrhea 6"]
["GUCY2C","meconium ileus"]
["GUCY2D","Cone-rod dystrophy 6"]
["GUCY2D","Leber congenital amaurosis 1"]
["GUF1","Epileptic encephalopathy, early infantile, 40"]
["GUSB","Mucopolysaccharidosis VII (Sly syndrome)"]
["GYG1","Glycogen storage disease XV"]
["GYPA","MN antigen"]
["GYPB","Ss antigen"]
["GYPC","Gerbich antigen"]
["GYS1","Glycogen storage disease 0, muscle"]
["GYS2","Glycogen storage disease, type 0"]
["H6PD","Cortisone reductase deficiency 1"]
["HABP2","VTE (Venous thromboembolism) susceptibility"]
["HACE1","Spastic paraplegia and psychomotor retardation with or without seizures"]
["HADH","3-hydroxyacyl-CoA dehydrogenase deficiency"]
["HADH","Hyperinsulinemic hypoglycemia, familial, 4"]
["HADHA","LCHAD deficiency"]
["HADHA","LCHAD deficiency / Trifunctional protein deficiency"]
["HADHA","Trifunctional protein deficiency 1"]
["HADHB","Trifunctional protein deficiency 2"]
["HAMP","Hemochromatosis, type 2B"]
["HARS","Charcot-Marie-Tooth disease, axonal, type 2W"]
["HARS","Usher syndrome type 3B"]
["HARS2","Perrault syndrome 2"]
["HAX1","Neutropenia, severe congenital 3, autosomal recessive"]
["HCCS","Linear skin defects with multiple congenital anomalies 1"]
["HCCS","Microphthalmia, syndromic 7 / Linear skin defects"]
["HCFC1","Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )"]
["HCN1","Epileptic encephalopathy, early infantile, 24"]
["HCN4","Brugada syndrome 8"]
["HCN4","Sick sinus syndrome 2"]
["HDAC4","Brachydactyly-mental retardation syndrome"]
["HDAC6","Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"]
["HDAC8","Cornelia de Lange syndrome 5"]
["HDAC8","Wilson-Turner syndrome_HDAC8"]
["HEATR2","Ciliary dyskinesia, primary, 18"]
["HECW2","Neurodevelopmental disorder with hypotonia, seizures, and absent language"]
["HELLS","Immunodeficiency-centromeric instability-facial anomalies syndrome 4"]
["HEPACAM","Megalencephalic leukoencephalopathy with subcortical cysts 2A"]
["HERC1","Macrocephaly, dysmorphic facies, and psychomotor retardation"]
["HERC2","Mental retardation, autosomal recessive 38"]
["HES7","Spondylocostal dysostosis 4, autosomal recessive"]
["HESX1","Pituitary hormone deficiency, combined, 5"]
["HESX1","Septooptic dysplasia"]
["HEXA","Tay Sachs"]
["HEXA","Tay Sachs disease (GM2 gangliosidoses)"]
["HEXB","Sandhoff disease"]
["HEXB","Sandhoff disease (GM2 gangliosidoses)"]
["HFE","Hemochromatosis, type 1"]
["HFE2","Hemochromatosis, type 2A"]
["HFM1","Premature ovarian failure 9"]
["HGD","Alkaptonuria"]
["HGF","Deafness, autosomal recessive 39"]
["HGSNAT","Mucopolysaccharidosis type IIIC (Sanfilippo C)"]
["HGSNAT","Retinitis pigmentosa 73"]
["HIBCH","3-hydroxyisobutryl-CoA hydrolase deficiency"]
["HINT1","Neuromyotonia and axonal neuropathy, autosomal recessive"]
["HIVEP2","Mental retardation, autosomal dominant 43"]
["HK1","Charcot-Marie-Tooth disease, type 4G (Russe)"]
["HK1","Hemolytic anemia due to hexokinase deficiency"]
["HK1","Retinitis pigmentosa 79"]
["HLCS","Holocaboxylase synthetase deficiency"]
["HMBS","Porphyria, acute intermittent"]
["HMCN1","Macular degeneration, age-related, 1"]
["HMGB3","Microphthalmia, syndromic 13"]
["HMGCL","3-Hydroxy 3-methylglutaric aciduria"]
["HMGCS2","HMG-CoA synthase-2 deficiency"]
["HMOX1","Heme oxygenase-1 deficiency"]
["HMX1","Oculoauricular syndrome"]
["HNF1A","Maturity-onset diabetes of the young, type III"]
["HNF1B","Maturity-onset diabetes of the young"]
["HNF1B","Renal cysts and diabetes syndrome"]
["HNF1B","Mayer-Rokitansky-Küster-Hauser syndrome_HNF1B"]
["HNF4A","Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young"]
["HNF4A","Maturity-onset diabetes of the young, type I"]
["HNMT","Mental retardation, autosomal recessive 51"]
["HNRNPA1","Amyotrophic lateral sclerosis 20"]
["HNRNPA1","Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia 3"]
["HNRNPA2B1","Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2"]
["HNRNPDL","Muscular dystrophy, limb-girdle, type 1G"]
["HNRNPH2","Mental retardation, X-linked, syndromic, Bain type"]
["HNRNPU","Epileptic encephalopathy, early infantile, 54"]
["HOGA1","Hyperoxaluria, primary, type III"]
["HOMER2","Deafness, autosomal dominant 68"]
["HOXA1","Athabaskan brainstem dysgenesis syndrome / Bosley-Salih-Alorainy syndrome"]
["HOXA1","Bosley-Salih-Alorainy syndrome"]
["HOXA11","Radioulnar synostosis with amegakaryocytic thrombocytopenia 1"]
["HOXA13","Guttmacher syndrome"]
["HOXA13","Hand-foot-uterus syndrome"]
["HOXA2","Microtia with or without hearing impairment"]
["HOXA4","CAKUT_HOXA4"]
["HOXB1","Facial paresis, hereditary congenital, 3"]
["HOXB13","Hereditary prostate cancer_HOXB13"]
["HOXB6","CAKUT_HOXB6"]
["HOXC13","Ectodermal dysplasia 9, hair/nail type"]
["HOXD10","Vertical talus, congenital"]
["HOXD13","Synpolydactyly"]
["HOXD13","VACTERL 1"]
["HPCA","Dystonia 2, Torsion, Autosomal Recessive; "]
["HPD","Tyrosinemia, type III"]
["HPGD","Hypertrophic osteoarthropathy, primary, autosomal recessive 1"]
["HPRT1","Lesch-Nyhan syndrome"]
["HPS1","Hermansky-Pudlak syndrome 1"]
["HPS3","Hermansky-Pudlak syndrome 3"]
["HPS4","Hermansky-Pudlak syndrome 4"]
["HPS5","Hermansky-Pudlak syndrome 5"]
["HPS6","Hermansky-Pudlak syndrome 6"]
["HPSE2","Urofacial syndrome 1"]
["HR","Atrichia with papular lesions"]
["HR","Hypotrichosis 4"]
["HRAS","Costello syndrome"]
["HRG","Thrombophilia due to elevated HRG"]
["HS6ST1","Hypogonadotropic hypogonadism 15 with or without anosmia"]
["HSD11B1","Cortisone reductase deficiency 2"]
["HSD11B2","Apparent mineralcorticoid excess"]
["HSD17B10","17-beta-hydroxysteroid dehydrogenase X deficiency"]
["HSD17B10","Mental retardation, X-linked syndromic 10"]
["HSD17B3","Pseudohermaphroditism, male, with gynecomastia"]
["HSD17B4","Perrault syndrome 1"]
["HSD3B2","3-beta-hydroxysteroid dehydrogenase, type II, deficiency"]
["HSD3B7","Bile acid synthesis defect, congenital, 1"]
["HSF4","Cataract 5, multiple types"]
["HSPA9","Anemia, sideroblastic, 4"]
["HSPA9","Even-plus syndrome"]
["HSPB1","Charcot-Marie-Tooth disease, axonal, type 2F"]
["HSPB1","Neuronopathy, distal hereditary motor, type IIB"]
["HSPB3","Neuronopathy, distal hereditary motor, type IIC"]
["HSPB8","Charcot-Marie-Tooth disease, axonal, type 2L"]
["HSPB8","Distal myopathy and motor neuropathy"]
["HSPB8","Neuronopathy, distal hereditary motor, type IIA"]
["HSPD1","Leukodystrophy, hypomyelinating, 4"]
["HSPD1","Spastic paraplegia 13"]
["HSPG2","Dyssegmental dysplasia, Silverman-Handmaker type"]
["HSPG2","Schwartz-Jampel syndrome, type 1"]
["HTR1A","Periodic fever, menstrual cycle dependent"]
["HTRA1","Carasil"]
["HTRA1","Macular degeneration, age-related, 7"]
["HTRA2","3-methylglutaconic aciduria, type VIII"]
["HTT","Lopes-Maciel-Rodan Syndrome"]
["HUWE1","Mental retardation, X-linked syndromic, Turner type"]
["HYAL1","Mucopolysaccharidosis type IX"]
["HYAL2","CLEFTING"]
["HYDIN","Ciliary dyskinesia, primary, 5"]
["HYLS1","Hydrolethalus syndrome 1"]
["IARS","Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"]
["IARS2","Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"]
["IBA57","Fatal infantile leukodystrophy"]
["IBA57","Multiple mitochondrial dysfunctions syndrome 3"]
["IBA57","Spastic paraplegia 74, autosomal recessive"]
["ICAM4","Blood group, Landsteiner-Wiener"]
["ICK","Endocrine-cerebroosteodysplasia"]
["ICK","Juvenile myoclonic epilepsy-10"]
["ICOS","Immunodeficiency, common variable, 1"]
["IDH1","Vascular malformation_IDH1"]
["IDH2","D-2-hydroxyglutaric aciduria 2"]
["IDH3B","Retinitis pigmentosa 46"]
["IDS","Mucopolysaccharidosis II (Hunter syndrome)"]
["IDUA","Mucopolysaccharidosis Is (Hurler)"]
["IER3IP1","Microcephaly, epilepsy, and diabetes syndrome"]
["IFIH1","Aicardi-Goutieres syndrome 7"]
["IFIH1","Singleton-Merten syndrome 1"]
["IFITM5","Osteogenesis imperfecta, type V"]
["IFNAR2","Immunodeficiency 45"]
["IFNGR1","Immunodeficiency 27A/B"]
["IFNGR2","Immunodeficiency 28"]
["IFRD1","Spinocerebellar ataxia 18"]
["IFT122","Cranioectodermal dysplasia 1"]
["IFT140","Short-rib thoracic dysplasia 9 with or without polydactyly"]
["IFT140","Leber congenital amaurosis_IFT140"]
["IFT140","Retinitis pigmentosa 80"]
["IFT172","Bardet-Biedl syndrome 20"]
["IFT172","Retinitis pigmentosa 71"]
["IFT172","Short-rib thoracic dysplasia 10 with or without polydactyly"]
["IFT27","Bardet-Biedl syndrome 19"]
["IFT43","Cranioectodermal dysplasia 3"]
["IFT43","Retinitis pigmentosa, 81"]
["IFT43","Short-rib thoracic dysplasia 17 with or without polydactyly"]
["IFT52","Short-rib thoracic dysplasia 16 with or without polydactyly"]
["IFT80","Short-rib thoracic dysplasia 2 with or without polydactyly"]
["IGBP1","Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"]
["IGBP1","Mental retardation, X-linked syndromic 28"]
["IGF1","Growth retardation with deafness and mental retardation due to IGF1 deficiency"]
["IGF1R","Insulin-like growth factor I, resistance to"]
["IGFALS","Acid-labile subunit, deficiency of"]
["IGFBP7","Retinal arterial macroaneurysm with supravalvular pulmonic stenosis"]
["IGHM","Agammaglobulinemia 1"]
["IGHMBP2","Neuronopathy, distal hereditary motor, type VI"]
["IGHMBP2","Spinal muscular atrophy, distal, autosomal recessive, 1"]
["IGLL1","Agammaglobulinemia 2"]
["IGSF1","Hypothyroidism, central, and testicular enlargement"]
["IHH","Acrocapitofemoral dysplasia"]
["IKBKAP","Dysautonomia, familial"]
["IKBKB","Immunodeficiency 15"]
["IKZF1","Immunodeficiency, common variable, 13"]
["IL10","Immunodeficiency_IL10"]
["IL10RA","Inflammatory bowel disease 28, early onset, autosomal recessive"]
["IL10RB","Inflammatory bowel disease 25, early onset, autosomal recessive"]
["IL11RA","Craniosynostosis and dental anomalies"]
["IL12B","Immunodeficiency 29, mycobacteriosis"]
["IL12RB1","Immunodeficiency 30"]
["IL17F","Candidiasis, familial, 6, autosomal dominant"]
["IL17RA","Candidiasis, familial, 5, autosomal recessive / Immunodeficiency 51"]
["IL17RC","Candidiasis, familial, 9"]
["IL17RD","Hypogonadotropic hypogonadism 18 with or without anosmia"]
["IL1RAPL1","Mental retardation, X-linked 21/34"]
["IL1RN","Interleukin 1 receptor antagonist deficiency"]
["IL2","Severe combined immunodeficiency due to IL2 deficiency"]
["IL21","Immunodeficiency, common variable, 11"]
["IL21R","Immunodeficiency, primary, autosomal recessive, IL21R-related"]
["IL2RA","Immunodeficiency 41 with lymphoproliferation and autoimmunity"]
["IL2RG","Severe combined immunodeficiency, X-linked"]
["IL31RA","Amyloidosis, primary localized cutaneous, 2"]
["IL36RN","Psoriasis 14, generalized pustular"]
["IL6ST","Immunodeficiency and craniosynostosis"]
["IL7R","Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type"]
["ILDR1","Deafness, autosomal recessive 42"]
["IMPA1","Mental retardation, autosomal recessive 59"]
["IMPAD1","Chondrodysplasia with joint dislocations, GRAPP type"]
["IMPDH1","Leber congenital amaurosis 11"]
["IMPDH1","Retinitis pigmentosa 10"]
["IMPG1","Macular dystrophy, vitelliform, 4"]
["IMPG2","Macular dystrophy, vitelliform, 5"]
["IMPG2","Retinitis pigmentosa 56"]
["INF2","Charcot-Marie-Tooth disease, dominant intermediate E"]
["INF2","Glomerulosclerosis, focal segmental, 5"]
["INPP5E","Joubert syndrome 1"]
["INPP5E","Mental retardation, truncal obesity, retinal dystrophy, and micropenis"]
["INPP5K","Congenital Muscular Dystrophy with cataracts and Mild Cognitive Impairment"]
["INPPL1","Opsismodysplasia"]
["INS","Maturity-onset diabetes of the young, type X"]
["INSL3","Cryptorchidism_INSL3"]
["INSR","Diabetes mellitus, insulin-resistant, with acanthosis nigricans"]
["INSR","Donahue syndrome / Leprechaunism"]
["INSR","Hyperinsulinemic hypoglycemia, familial, 5"]
["INSR","Hypoglycemia"]
["INSR","Rabson-Mendenhall syndrome"]
["INTU","Short-rib throacic dysplasia 20 with polydactyly"]
["INTU","Orofaciodigital syndrome XVII"]
["INVS","Nephronophthisis 2"]
["INVS","Nephronophthisis 2, infantile"]
["IQCB1","Nephronophthisis 5"]
["IQCB1","Senior Loken Syndrome-5"]
["IQCB1","Senior-Loken syndrome 5"]
["IQCE","Postaxial polydactyly type A7 "]
["IQSEC2","Mental retardation, X-linked 1"]
["IRAK4","IRAK4 deficiency"]
["IRF6","Orofacial cleft 6"]
["IRF6","Popliteal pterygium syndrome 1"]
["IRF6","Van der Woude syndrome"]
["IRF7","Immunodeficiency 39"]
["IRF8","Immunodeficiency 32A, mycobacteriosis, autosomal dominant"]
["IRF8","Monocyte and dendritic cell deficiency, autosomal recessive, Immunodeficiency 32B"]
["IRX1","Macular dystrophy, North Carolina type 1"]
["IRX5","Hamamy syndrome"]
["ISCA2","Multiple mitochondrial dysfunctions syndrome 4"]
["ISCU","Myopathy with lactic acidosis, hereditary"]
["ISG15","Immunodeficiency 38"]
["ISPD","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"]
["ISPD","Muscular dystrophy, limb-girdle, type 2U"]
["ITCH","Autoimmune disease, syndromic multisystem"]
["ITGA2B","Glanzmann thrombasthenia_ITGA2B"]
["ITGA3","interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"]
["ITGA6","Epidermolysis bullosa, junctional, with pyloric stenosis"]
["ITGA7","Muscular dystrophy, congenital, due to ITGA7 deficiency"]
["ITGA8","Renal hypodysplasia/aplasia 1"]
["ITGB2","Leukocyte adhesion deficiency"]
["ITGB3","Glanzmann thrombasthenia_ITGB3"]
["ITGB4","Epidermolysis bullosa"]
["ITGB4","Epidermolysis bullosa, junctional, non-Herlitz type_ITGB4"]
["ITGB6","Amelogenesis imperfecta, type IH"]
["ITK","Lymphoproliferative syndrome 1"]
["ITM2B","Dementia, familial British"]
["ITM2B","Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities"]
["ITPA","Epileptic encephalopathy, early infantile, 35"]
["ITPR1","Spinocerebellar ataxia 15 / 29"]
["ITPR2","Anhidrosis, isolated, with normal sweat glands"]
["ITSN1","Nephrotic syndrome_ITSN1"]
["ITSN2","Nephrotic syndrome_ITSN2"]
["IVD","Isovaleric acidemia"]
["IYD","Thyroid dyshormonogenesis 4"]
["JAG1","Alagille syndrome 1"]
["JAG1","Tetralogy of Fallot 4"]
["JAGN1","Neutropenia, severe congenital, 6, autosomal recessive"]
["JAK2","Erythrocytosis, somatic"]
["JAK3","SCID, autosomal recessive, T-negative/B-positive type"]
["JAM3","Hemorrhagic destruction of the brain, subependymal calcification, and cataracts"]
["JPH2","Cardiomyopathy, familial hypertrophic 17"]
["JUP","Arrhythmogenic right ventricular dysplasia 12"]
["JUP","Naxos disease with epidermolysis"]
["KAL1","Hypogonadotropic hypogonadism 1 with or without anosmia"]
["KAL1","Kallmann syndrome 1"]
["KANK1","Cerebral palsy, spastic quadriplegic, 2"]
["KANK2","Palmoplantar keratoderma and woolly hair"]
["KANK2","Nephrotic syndrome, type 16"]
["KANK4","FSGS_KANK4"]
["KANSL1","Koolen-De Vries syndrome"]
["KARS","Charcot-Marie-Tooth disease, recessive intermediate, B"]
["KARS","Deafness, autosomal recessive 89"]
["KARS","Leukoencephalopathy with hearing loss"]
["KAT6A","Mental retardation, autosomal dominant 32"]
["KAT6A","Microcephaly and global developmental delay"]
["KAT6B","Genitopatellar syndrome"]
["KAT6B","SBBYSS syndrome / GENITOPATELLAR SYNDROME"]
["KAT6B","Noonan-Like 2"]
["KATNB1","Microcephaly, lissencephaly, brain malformations, seizures"]
["KBTBD13","Nemaline myopathy 6, autosomal dominant"]
["KCNA1","Episodic ataxia 1"]
["KCNA1","Paroxysmal kinesigenic dyskinesia_KCNA1"]
["KCNA2","Epileptic encephalopathy, early infantile, 32"]
["KCNA2","Spastic paraplegia_KCNA2"]
["KCNA5","Atrial fibrillation, familial, 7"]
["KCNB1","Epileptic encephalopathy, early infantile, 26"]
["KCNC1","Epilepsy, progressive myoclonic 7"]
["KCNC3","Spinocerebellar ataxia 13"]
["KCND3","Spinocerebellar ataxia 19"]
["KCND3","Brugada syndrome 9"]
["KCNE1","Jervell and Lange-Nielsen syndrome 2"]
["KCNE1","Long QT syndrome 5"]
["KCNE2","Atrial fibrillation, familial, 4"]
["KCNE2","Long QT syndrome 6"]
["KCNE3","Brugada syndrome 6"]
["KCNH1","Temple-Baraitser syndrome"]
["KCNH1","Zimmermann-Laband syndrome 1"]
["KCNH2","Long QT syndrome 2"]
["KCNH2","Short QT syndrome-1"]
["KCNJ1","Bartter syndrome, type 2"]
["KCNJ10","Enlarged vestibular aqueduct, digenic"]
["KCNJ10","SESAME syndrome"]
["KCNJ11","Diabetes mellitus, transient neonatal, 3"]
["KCNJ11","Hyperinsulinemic hypoglycemia, familial, 2"]
["KCNJ11","Maturity-onset diabetes of the young, type XIII"]
["KCNJ13","Leber congenital amaurosis 16"]
["KCNJ13","Snowflake vitreoretinal degeneration"]
["KCNJ2","Andersen syndrome"]
["KCNJ2","Anderson cardiodysrhythmic periodic paralysis"]
["KCNJ2","Atrial fibrillation, familial, 9"]
["KCNJ2","Long QT syndrome 7"]
["KCNJ2","Short QT syndrome-3"]
["KCNJ5","Hyperaldosteronism, familial, type III"]
["KCNJ5","Long QT syndrome 13"]
["KCNJ6","Keppen-Lubinsky Syndrome"]
["KCNK3","Pulmonary hypertension, primary, 4"]
["KCNK9","Birk-Barel mental retardation dysmorphism syndrome"]
["KCNMA1","Generalized epilepsy and paroxysmal dyskinesia"]
["KCNMA1","Cerebellar atrophy, developmental delay, and seizures (CADEDS)"]
["KCNQ1","Atrial fibrillation, familial, 3"]
["KCNQ1","Jervell and Lange-Nielsen syndrome 1"]
["KCNQ1","Long QT syndrome 1"]
["KCNQ1","Short QT syndrome-2"]
["KCNQ2","Epileptic encephalopathy, early infantile, 7"]
["KCNQ2","Seizures, benign neonatal, 1"]
["KCNQ3","Seizures, benign neonatal, type 2"]
["KCNQ4","Deafness, autosomal dominant 2A"]
["KCNQ5","Mental retardation, autosomal dominant 46"]
["KCNT1","Epilepsy, nocturnal frontal lobe, 5"]
["KCNT1","Epileptic encephalopathy, early infantile, 14"]
["KCNV2","Retinal cone dystrophy 3B"]
["KCTD1","Scalp-ear-nipple syndrome"]
["KCTD17","Dystonia 26, myoclonic"]
["KCTD7","Ceroid lipofuscinosis, neuronal, 14"]
["KCTD7","Epilepsy, progressive myoclonic 3, with or without intracellular inclusions"]
["KDM1A","Cleft palate, psychomotor retardation, and distinctive facial features"]
["KDM1A","Multiple myeloma susceptibility"]
["KDM5C","Mental retardation, X-linked, syndromic, Claes-Jensen type"]
["KDM6A","Kabuki syndrome 2"]
["KDSR","Progressive Symmetric Erythrokeratoderma"]
["KDSR","Erythrokeratodermia variabilis et progressiva 4"]
["KEL","Kell antigen"]
["KERA","Cornea plana congenita, recessive"]
["KHDC3L","Hydatidiform mole, recurrent, 2"]
["KIAA0196","Ritscher-Schinzel syndrome 1"]
["KIAA0196","Spastic paraplegia 8"]
["KIAA0226","Spinocerebellar ataxia, autosomal recessive 15"]
["KIAA0556","Joubert syndrome 26"]
["KIAA0586","Joubert syndrome 23"]
["KIAA0586","Short-rib thoracic dysplasia 14 with polydactyly"]
["KIAA0753","Orofaciodigital syndrome XV"]
["KIAA1033","Mental retardation, autosomal recessive 43"]
["KIAA1109","Alkuraya-Kucinskas syndrome"]
["KIAA1109","Disorder of brain development with arthrogryposis"]
["KIAA1279","Goldberg-Shprintzen megacolon syndrome"]
["KIAA1549","Retinitis pigmentosa_KIAA1549"]
["KIAA2022","Mental retardation, X-linked 98"]
["KIDINS220","Spastic paraplegia, intellectual disability, nystagmus, and obesity"]
["KIDINS220","cerebral ventriculomegaly and limb contractures"]
["KIF11","Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"]
["KIF14","Meckel syndrome 12"]
["KIF14","Microcephaly_KIF14"]
["KIF1A","Mental retardation, autosomal dominant 9"]
["KIF1A","Neuropathy, hereditary sensory, type IIC"]
["KIF1A","Spastic paraplegia 30"]
["KIF1B","Charcot-Marie-Tooth disease, axonal, type 2A1"]
["KIF1B","Hereditary pheochromcytoma_KIF1B"]
["KIF1C","Spastic ataxia 2, autosomal recessive"]
["KIF1C","Spastic paraplegia 58, autosomal recessive"]
["KIF21A","Fibrosis of extraocular muscles, congenital, 1"]
["KIF22","Spondyloepimetaphyseal dysplasia with joint laxity, type 2"]
["KIF23","Hydrops_KIF23"]
["KIF2A","Cortical dysplasia, complex, with other brain malformations 3"]
["KIF4A","Mental retardation, X-linked 100"]
["KIF5A","Spastic paraplegia 10,"]
["KIF5C","Cortical dysplasia, complex, with other brain malformations 2"]
["KIF7","Acrocallosal syndrome"]
["KIF7","Hydrolethalus syndrome 2"]
["KIF7","Joubert syndrome 12"]
["KIRREL3","Mental retardation, autosomal dominant 4"]
["KISS1","Hypogonadotropic hypogonadism 13 with or without anosmia"]
["KISS1R","Hypogonadotropic hypogonadism 8 with or without anosmia"]
["KISS1R","Precocious puberty, central, 1"]
["KIT","Gastrointestinal stromal tumor_KIT"]
["KIT","Leukemia, Acute Myeloid, Familial 5"]
["KITLG","Deafness, autosomal dominant 69"]
["KITLG","Hyperpigmentation, familial progressive, 2"]
["KL","Tumoral calcinosis 1"]
["KLC2","Spastic paraparesis, Optic atrophy & Polyneuropathy"]
["KLF1","Anemia, dyserythropoietic congenital, type IV"]
["KLF1","Blood group--Lutheran inhibitor"]
["KLF11","Maturity-onset diabetes of the young, type VII"]
["KLHL10","Spermatogenic failure 11"]
["KLHL15","Mental retardation, X-linked 103"]
["KLHL24","Skin Fragility, Epidermolysis bullosa simplex, generalized, with scarring and hair loss"]
["KLHL3","Pseudohypoaldosteronism, type IID"]
["KLHL40","Nemaline myopathy 8, autosomal recessive"]
["KLHL41","Nemaline myopathy 9, autosomal recessive"]
["KLHL7","Cold-induced sweating syndrome 3"]
["KLHL7","Retinitis pigmentosa 42"]
["KLK4","Amelogenesis imperfecta, type IIA1"]
["KLKB1","Prekallikrein (fletcher) factor deficiency "]
["KLLN","Cowden syndrome 4"]
["KMT2A","Wiedemann-Steiner syndrome"]
["KMT2B","Early-Onset Generalized Dystonia"]
["KMT2C","Kleefstra syndrome 2"]
["KMT2D","Kabuki syndrome 1"]
["KNG1","Kininogen deficiency"]
["KPTN","Mental retardation, autosomal recessive 41"]
["KRAS","Noonan syndrome 3 / Cardiofaciocutaneous syndrome 2"]
["KRAS","RAS-associated autoimmune leukoproliferative disorder"]
["KRAS","Leukemia, Acute Myeloid, Familial 6"]
["KRIT1","Cerebral cavernous malformation 1"]
["KRT1","Epidermolytic hyperkeratosis_KRT1"]
["KRT1","Ichthyosis histrix, Curth-Macklin type"]
["KRT1","Palmoplantar keratoderma, epidermolytic_KRT1"]
["KRT10","Ichthyosis with confetti"]
["KRT10","Epidermolytic hyperkeratosis_KRT10"]
["KRT12","Meesmann corneal dystrophy_KRT12"]
["KRT13","White sponge nevus 2"]
["KRT14","Epidermolysis bullosa simplex _KRT14"]
["KRT16","Pachyonychia congenita 1, Jadassohn-Lewandowsky type"]
["KRT17","Pachyonychia congenita 2, Jackson-Lawler type"]
["KRT18","Cirrhosis, cryptogenic 1"]
["KRT2","Ichthyosis bullosa of Siemens"]
["KRT3","Meesmann corneal dystrophy_KRT3"]
["KRT4","White sponge nevus 1"]
["KRT5","Epidermolysis bullosa simplex_KRT5"]
["KRT6A","Pachyonychia congenita 3, Jadassohn-Lewandowsky type"]
["KRT6B","Pachyonychia congenita 4, Jackson-Lawler type"]
["KRT6C","Palmoplantar keratoderma, nonepidermolytic, focal or diffuse"]
["KRT71","Hypotrichosis 13"]
["KRT74","Ectodermal dysplasia 7, hair/nail type"]
["KRT74","Hypotrichosis 3"]
["KRT74","Woolly hair, autosomal dominant"]
["KRT8","Cirrhosis, cryptogenic 2"]
["KRT81","Monilethrix 1"]
["KRT83","Monilethrix 2"]
["KRT83","Erythrokeratodermia variabilis et progressiva 5"]
["KRT85","Ectodermal dysplasia 4, hair/nail type"]
["KRT86","Monilethrix 3"]
["KRT9","Palmoplantar keratoderma, epidermolytic_KRT9"]
["KY","Myopathy, myofibrillar, 7"]
["KYNU","Hydroxykynureninuria"]
["KYNU","Vertebral, cardiac, renal, and limb defects syndrome 2"]
["L1CAM","Corpus callosum, partial agenesis of"]
["L1CAM","Hydrocephalus due to aqueductal stenosis"]
["L1CAM","Spastic paraplegia 1"]
["L2HGDH","L-2-hydroxyglutaric aciduria"]
["LAMA1","Poretti-Boltshauser syndrome"]
["LAMA2","Muscular dystrophy, congenital merosin-deficient"]
["LAMA3","Epidermolysis bullosa, junctional, Herlitz type"]
["LAMA4","Cardiomyopathy, dilated, 1JJ"]
["LAMA5","Nephrotic syndrome-candidate_LAMA5"]
["LAMB1","Lissencephaly 5"]
["LAMB2","Nephrotic syndrome, type 5"]
["LAMB3","Amelogenesis imperfecta, type IA"]
["LAMB3","Epidermolysis bullosa, junctional, Herlitz type, non-Herlitz type"]
["LAMC2","Epidermolysis bullosa, junctional, Herlitz type, non-Herlitz type_LAMC2"]
["LAMC3","Cortical malformations, occipital"]
["LAMP2","Danon disease"]
["LAMP2","Danon myopathy"]
["LAMTOR2","Immunodeficiency due to defect in MAPBP-interacting protein"]
["LARGE","Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6"]
["LARP7","Alazami syndrome"]
["LARS","Infantile liver failure syndrome 1"]
["LARS2","Perrault syndrome 4"]
["LAS1L","Wilson-Turner syndrome_LAS1L"]
["LBR","Greenberg skeletal dysplasia"]
["LBR","Reynolds syndrome"]
["LCA5","Leber congenital amaurosis 5"]
["LCAT","Fish-eye disease"]
["LCAT","Norum disease"]
["LCK","Immunodeficiency 22"]
["LCT","Lactase deficiency, congenital"]
["LDB3","Cardiomyopathy, dilated 1C"]
["LDB3","Cardiomyopathy, familial hypertrophic, 24"]
["LDB3","Left ventricular noncompaction 3"]
["LDB3","Myopathy, myofibrillar, 4"]
["LDHA","Glycogen storage disease XI"]
["LDHB","Lactate dehydrogenase-B deficiency"]
["LDLR","Hypercholesterolemia, familial"]
["LDLRAP1","Hypercholesterolemia, familial, autosomal recessive"]
["LEFTY2","Left-right axis malformations"]
["LEMD2","Cataract 46"]
["LEMD3","Buschke-Ollendorff syndrome"]
["LEMD3","Osteopoikilosis"]
["LEP","Obesity"]
["LEPR","Obesity, morbid, due to leptin receptor deficiency"]
["LEPRE1","Osteogenesis imperfecta, type VIII"]
["LEPREL1","Myopia, high, with cataract and vitreoretinal degeneration"]
["LFNG","Spondylocostal dysostosis 3, autosomal recessive"]
["LGI1","Epilepsy, familial temporal lobe, 1"]
["LGI4","Arthrogryposis Multiplex Congenita"]
["LHB","Hypogonadotropic hypogonadism 23 with or without anosmia"]
["LHCGR","Leydig cell hypoplasia with pseudohermaphroditism"]
["LHFPL5","Deafness, autosomal recessive 67"]
["LHX1","Mayer-Rokitansky-Küster-Hauser syndrome_LHX1"]
["LHX3","Pituitary hormone deficiency, combined, 3"]
["LHX4","Pituitary hormone deficiency, combined, 4"]
["LIAS","Hyperglycinemia, lactic acidosis, and seizures"]
["LIFR","Schwartz-Jampel syndrome, type 2"]
["LIG1","DNA ligase I deficiency"]
["LIG4","LIG4 syndrome"]
["LIM2","Cataract 19"]
["LIMK1","Williams syndrome critical region_LIMK1"]
["LIMS2","Muscular dystrophy, limb-girdle, type 2W"]
["LINS","Mental retardation, autosomal recessive 27"]
["LIPA","Lysosomal Acid Lipase deficiency"]
["LIPE","Lipodystrophy, familial partial, type 6"]
["LIPH","Hypotrichosis 7"]
["LIPH","Hypotrichosis, localized, autosomal recessive 2. woolly hair"]
["LIPN","Ichthyosis, congenital, autosomal recessive 8"]
["LIPT1","Lipoyltransferase 1 deficiency"]
["LITAF","Charcot-Marie-Tooth disease, type 1C"]
["LMAN1","Combined factor V and VIII deficiency 1"]
["LMAN2L","Mental retardation, autosomal recessive, 52"]
["LMBR1","Polydactyly, preaxial type II"]
["LMBRD1","Methylmalonic aciduria and homocystinuria, cblF type"]
["LMF1","Lipase deficiency, combined"]
["LMNA","Cardiomyopathy, dilated, 1A"]
["LMNA","Charcot-Marie-Tooth disease, axonal, type 2B1"]
["LMNA","Emery-Dreifuss muscular dystrophy 2"]
["LMNA","Emery-Dreifuss muscular dystrophy 3"]
["LMNA","Hutchinson-Gilford progeria"]
["LMNA","Lipodystrophy, familial partial, type 2"]
["LMNA","Mandibuloacral dysplasia"]
["LMNA","Muscular dystrophy, congenital"]
["LMNA","Muscular dystrophy, limb-girdle, type 1B"]
["LMNB1","Adult onset leukodystrophy"]
["LMNB2","Epilepsy, progressive myoclonic, 9"]
["LMOD3","Nemaline myopathy 10"]
["LMX1B","Nail-patella syndrome"]
["LONP1","CODAS syndrome"]
["LOR","Vohwinkel syndrome with ichthyosis"]
["LOX","Aortic aneurysm, familial thoracic 10"]
["LOXHD1","Deafness, autosomal recessive 77"]
["LOXL2","Intracranial aneurysm_LOXL2"]
["LPAR6","Hypotrichosis 8"]
["LPIN1","Myoglobinuria, acute recurrent, autosomal recessive"]
["LPIN2","Majeed syndrome"]
["LPL","Combined hyperlipidemia, familial"]
["LPP","Leukemia, Acute Myeloid, Familial 7"]
["LRAT","Leber congenital amaurosis 14"]
["LRAT","Retinitis pigmentosa, juvenile_LRAT"]
["LRBA","Immunodeficiency, common variable, 8, with autoimmunity"]
["LRIG2","Urofacial syndrome 2"]
["LRIT3","Night blindness, congenital stationary (complete), 1F, autosomal recessive"]
["LRP2","Donnai-Barrow syndrome"]
["LRP4","Cenani-Lenz syndactyly syndrome"]
["LRP4","Myasthenic syndrome, congenital, 17"]
["LRP5","Exudative vitreoretinopathy 4"]
["LRP5","Osteogenesis imperfecta"]
["LRP5","Osteopetrosis, autosomal dominant 1"]
["LRP5","Polycystic liver disease 4"]
["LRP6","Tooth agenesis, selective, 7"]
["LRPAP1","Myopia 23, autosomal recessive"]
["LRPPRC","Leigh syndrome, French-Canadian type"]
["LRRC6","Ciliary dyskinesia, primary, 19"]
["LRRC8A","Agammaglobulinemia 5"]
["LRRK1","osteosclerotic metaphyseal dysplasia"]
["LRRK2","Parkinson disease 8"]
["LRSAM1","Charcot-Marie-Tooth disease, axonal, type 2P"]
["LRTOMT","Deafness, autosomal recessive 63"]
["LSS","Cataract 44"]
["LTBP2","Glaucoma 3, primary congenital, D"]
["LTBP2","Weill-Marchesani syndrome 3, recessive"]
["LTBP3","Tooth agenesis, selective, 6, Dental anomalies and short stature"]
["LTBP3","Geleophysic dysplasia 3"]
["LTBP3","Aortic aneurysm, familial thoracic_LTBP3"]
["LTBP4","Cutis laxa, autosomal recessive, type IC"]
["LTC4S","Leukotriene C4 synthase deficiency"]
["LYRM4","Combined oxidative phosphorylation deficiency 19"]
["LYRM7","Mitochondrial complex III deficiency, nuclear type 8"]
["LYST","Chediak Higashi"]
["LYST","Chediak-Higashi syndrome"]
["LYST","Spastic paraplegia_LYST"]
["LYZ","Amyloidosis, renal"]
["LZTFL1","Bardet-Biedl syndrome 17"]
["LZTR1","Noonan syndrome 10"]
["MAB21L2","Microphthalmia, syndromic 14"]
["MAD2L2","Fanconi anemia, complementation group V"]
["MAF","Ayme-Gripp syndrome"]
["MAF","Cataract 21, multiple types"]
["MAFA","Insulinomatosis and diabetes mellitus"]
["MAFB","Duane syndrome type 3"]
["MAFB","Multicentric carpotarsal osteolysis syndrome"]
["MAFB","Focal segmental glomerulosclerosis with Duane syndrome"]
["MAG","Spastic paraplegia 75, autosomal recessive"]
["MAGED2","Bartter syndrome, type 5, antenatal, transient"]
["MAGEL2","Schaaf-Yang syndrome"]
["MAGI2","Nephrotic syndrome, type 15"]
["MAGI2","Early infantile epilepsy with encephalopathy_MAGI2"]
["MAGT1","Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia"]
["MAK","Retinitis pigmentosa 62"]
["MALT1","Immunodeficiency 12"]
["MAMLD1","Hypospadias 2, X-linked"]
["MAN1B1","Mental retardation, autosomal recessive 15"]
["MAN2B1","Alpha Mannosidosis"]
["MANBA","Mannosidosis, beta"]
["MAOA","Brunner syndrome"]
["MAP2K1","Cardiofaciocutaneous syndrome 3"]
["MAP2K2","Cardiofaciocutaneous syndrome 4"]
["MAP3K1","46XY sex reversal 6"]
["MAP3K14","Immunodeficiency_MAP3K14"]
["MAP3K7","Frontometaphyseal Dysplasia 2"]
["MAPKAPK3","Macular dystrophy, patterned, 3"]
["MAPKBP1","Nephronophthisis 20"]
["MAPRE2","Symmetric circumferential skin creases, congenital, 2"]
["MAPT","Dementia, frontotemporal, with or without parkinsonism"]
["MARS","Charcot-Marie-Tooth disease, axonal, type 2U"]
["MARS","Spastic paraplegia 70"]
["MARS2","Combined oxidative phosphorylation deficiency 25"]
["MARS2","Spastic ataxia 3, autosomal recessive"]
["MARVELD2","Deafness, autosomal recessive 49"]
["MASP1","3MC syndrome 1"]
["MASP2","MASP2 deficiency"]
["MAT1A","Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency"]
["MAT2A","Thoracid aortic disease"]
["MATN3","Epiphyseal dysplasia, multiple, 5"]
["MATN3","Spondyloepimetaphyseal dysplasia_MATN3"]
["MATR3","Amyotrophic lateral sclerosis 21"]
["MATR3","Distal myopathy_MATR3"]
["MAX","{Pheochromocytoma, susceptibility to}"]
["MBD4","Clonal hematopoiesis and early-onset AML"]
["MBD5","Mental retardation, autosomal dominant 1"]
["MBL2","Chronic infections, due to MBL deficiency"]
["MBOAT7","Mental retardation, autosomal recessive 57"]
["MBTPS2","IFAP syndrome with or without BRESHECK syndrome"]
["MBTPS2","Keratosis follicularis spinulosa decalvans, X-linked"]
["MBTPS2","Osteogenesis imperfecta, type XIX"]
["MC2R","Glucocorticoid deficiency, due to ACTH unresponsiveness"]
["MC4R","Obesity, autosomal dominant"]
["MCCC1","3-Methylcrotonyl-CoA carboxylase deficiency 1"]
["MCCC2","3-Methylcrotonyl-CoA carboxylase deficiency 2"]
["MCEE","Methylmalonyl-CoA epimerase deficiency"]
["MCFD2","Combined factor V and VIII deficiency 2"]
["MCM2","Deafness, autosomal dominant 70"]
["MCM3AP","Charcot Marie Tooth (recessive) with intellectual disability"]
["MCM4","Natural killer cell and glucocorticoid deficiency with DNA repair defect"]
["MCM5","Meier-Gorlin syndrome 8 "]
["MCM8","Premature ovarian failure 10"]
["MCM9","Ovarian dysgenesis 4"]
["MCOLN1","Mucolipidosis IV"]
["MCPH1","Microcephaly 1, primary, autosomal recessive"]
["MECOM","Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"]
["MECP2","Encephalopathy, neonatal severe"]
["MECP2","Mental retardation, X-linked syndromic, Lubs type"]
["MECP2","Rett syndrome"]
["MECR","Childhood-Onset Dystonia and Optic Atrophy"]
["MED12","FG syndrome 1"]
["MED12","Lujan Fryns syndrome"]
["MED12","Lujan-Fryns syndrome"]
["MED12","Ohdo syndrome, X-linked"]
["MED12","Opitz-Kaveggia syndrome"]
["MED13L","Transposition of the great arteries, dextro-looped 1"]
["MED13L","Intellectual disability_MED13L"]
["MED17","Microcephaly, postnatal progressive, with seizures and brain atrophy"]
["MED23","Mental retardation, autosomal recessive 18"]
["MED25","Charcot-Marie-Tooth disease, axonal, type 2B2"]
["MEF2A","Coronary artery disease, autosomal dominant, 1"]
["MEF2C","Mental retardation, autosomal dominant 20"]
["MEF2C","Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"]
["MEFV","Familial Mediterranean fever AD/AR"]
["MEGF10","Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"]
["MEGF8","Carpenter syndrome 2"]
["MEN1","Multiple endocrine neoplasia 1"]
["MEOX1","Klippel-Feil syndrome 2, autosomal recessive"]
["MERTK","Retinitis pigmentosa 38"]
["MESP2","Spondylocostal dysostosis 2, autosomal recessive"]
["MET","Deafness, autosomal recessive 97"]
["MET","Renal cell carcinoma, papillary, 1, familial and somatic"]
["MET","Hereditary diffuse gastric cancer_MET"]
["METTL23","Mental retardation, autosomal recessive 44"]
["MFAP5","Aortic aneurysm, familial thoracic 9"]
["MFF","Encephalopathy due to defective mitochondrial and peroxisomal fission 2"]
["MFN2","Charcot-Marie-Tooth disease, axonal, type 2A2A"]
["MFN2","Charcot-Marie-Tooth disease, type 2A2"]
["MFRP","Microphthalmia, isolated 5"]
["MFRP","Nanophthalmos 2"]
["MFSD2A","Microcephaly 15, primary, autosomal recessive"]
["MFSD8","Ceroid lipofuscinosis, neuronal, 7"]
["MGAT2","Congenital disorder of glycosylation, type IIa"]
["MGME1","Mitochondrial DNA depletion syndrome 11"]
["MGP","Keutel syndrome"]
["MIB1","Left ventricular noncompaction 7"]
["MICU1","Proximal myopathy, intellecutal disability, movement disorder"]
["MID1","Opitz GBBB syndrome, type I"]
["MID2","Mental retardation, X-linked 101"]
["MIP","Cataract 15, multiple types"]
["MIPEP","Combined oxidative phosphorylation deficiency 31"]
["MIR17HG","Feingold syndrome 2"]
["MIR184","EDICT syndrome"]
["MIR204","Retinal dystrophy and iris coloboma with or without cataract"]
["MIR96","Deafness, autosomal dominant 50"]
["MITF","Hereditary renal cancer_MITF"]
["MITF","Waardenburg syndrome, type 2A"]
["MKKS","Bardet-Biedl syndrome 6"]
["MKRN3","Precocious puberty, central, 2"]
["MKS1","Bardet-Biedl syndrome 13"]
["MKS1","Joubert syndrome 28"]
["MKS1","Meckel syndrome 1"]
["MLC1","Megalencephalic leukoencephalopathy with subcortical cysts"]
["MLF1","Leukemia, Acute Myeloid, Familial 8"]
["MLH1","Colorectal cancer, hereditary nonpolyposis, type 2"]
["MLH3","Colorectal cancer, hereditary nonpolyposis, type 7"]
["MLLT10","Leukemia, Acute Myeloid, Familial 9"]
["MLPH","Griscelli syndrome, type 3"]
["MLXIPL","Williams syndrome critical region_MLXIPL"]
["MLYCD","Malonyl-CoA decarboxylase deficiency"]
["MMAA","Methylmalonic aciduria, vitamin B12-responsive"]
["MMAB","Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"]
["MMACHC","Methylmalonic aciduria and homocystinuria, cblC type"]
["MMADHC","Methylmalonic aciduria and homocystinuria, cblD type"]
["MME","Charcot-Marie-Tooth disease, axonal, type 2T"]
["MME","Spinocerebellar ataxia 43"]
["MMP1","Epidermolysis bullosa dystrophica, autosomal recessive, modifier of"]
["MMP13","Metaphyseal anadysplasia 1"]
["MMP13","Spondyloepimetaphyseal dysplasia, Missouri type"]
["MMP14","Winchester syndrome"]
["MMP2","Multicentric osteolysis, nodulosis, and arthropathy"]
["MMP20","Amelogenesis imperfecta, type IIA2"]
["MMP21","Heterotaxy, visceral, 7, autosomal"]
["MMP9","Metaphyseal anadysplasia 2"]
["MNX1","Currarino syndrome"]
["MOCOS","Xanthinuria, type II"]
["MOCS1","Molybdenum cofactor deficiency A"]
["MOCS2","Molybdenum cofactor deficiency B"]
["MOGS","Congenital disorder of glycosylation, type IIb"]
["MORC2","Charcot-Marie-Tooth disease, axonal, type 2Z"]
["MPDU1","Congenital disorder of glycosylation, type If"]
["MPDZ","Hydrocephalus, nonsyndromic, autosomal recessive 2"]
["MPI","Congenital disorder of glycosylation, type Ib"]
["MPL","Congenital amegakaryocytic thrombocytopenia"]
["MPLKIP","Trichothiodystrophy 4, nonphotosensitive"]
["MPV17","Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"]
["MPZ","Charcot-Marie-Tooth disease, axonal, type 2I"]
["MPZ","Charcot-Marie-Tooth disease, axonal, type 2J"]
["MPZ","Charcot-Marie-Tooth disease, dominant intermediate D"]
["MPZ","Charcot-Marie-Tooth disease, type 1B"]
["MRAP","Glucocorticoid deficiency 2"]
["MRE11A","Ataxia-telangiectasia-like disorder 1"]
["MRPL3","Combined oxidative phosphorylation deficiency 9"]
["MRPL44","Combined oxidative phosphorylation deficiency 16"]
["MRPS16","Combined oxidative phosphorylation deficiency 2"]
["MRPS2","Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies"]
["MRPS2","Combined oxidative phosphorylation deficiency 36"]
["MRPS22","Combined oxidative phosphorylation deficiency 5"]
["MRPS22","Premature ovarian failure_MRPS22"]
["MS4A1","Immunodeficiency, common variable, 5"]
["MSH2","Colorectal cancer, hereditary nonpolyposis, type 1"]
["MSH3","Adenomatous polyposis, recessive_MSH3"]
["MSH5","Premature ovarian failure 13"]
["MSH6","Colorectal cancer, hereditary nonpolyposis, type 5"]
["MSMO1","Microcephaly, congenital cataract, and psoriasiform dermatitis"]
["MSN","Immunodeficiency 50"]
["MSRB3","Deafness, autosomal recessive 74"]
["MSTN","Muscle hypertrophy"]
["MSX1","Ectodermal dysplasia 3, Witkop type"]
["MSX1","Orofacial cleft 5"]
["MSX1","Tooth agenesis, selective, 1, with or without orofacial cleft"]
["MSX2","Craniosynostosis 2"]
["MTAP","Diaphyseal medullary stenosis with malignant fibrous histiocytoma"]
["MTFMT","Combined oxidative phosphorylation deficiency 15"]
["MTHFD1","Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"]
["MTHFR","Homocysteinuria"]
["MTM1","Myotubular myopathy, X-linked"]
["MTMR2","Charcot-Marie-Tooth disease, type 4B1"]
["MTO1","Combined oxidative phosphorylation deficiency 10"]
["MTOR","Smith-Kingsmore syndrome"]
["MTPAP","Spastic ataxia 4"]
["MTR","Homocystinuria-megaloblastic anemia, cblG complementation type"]
["MTR","Hyperhomocystinemia -methionine synthase- cbl G"]
["MTRR","Homocystinuria-megaloblastic anemia, cbl E type"]
["MTRR","Hyperhomocystinemia -methionine synthase reductae - cblE"]
["MTSS1L","Neurodegeneration with brain iron accumulation "]
["MTTP","Abetalipoproteinemia"]
["MUC5B","Pulmonary fibrosis, idiopathic, susceptibility to_MUC5B"]
["MUSK","Myasthenic syndrome, congenital, 9"]
["MUT","Methylmalonic aciduria, mut(0) type"]
["MUTYH","Familial adenomatous polyposis 2"]
["MUTYH","MYH associated polyposis"]
["MVK","Ataxia and retinitis pigmentosa"]
["MVK","Hyper-IgD syndrome"]
["MVK","Mevalonic aciduria"]
["MVK","Porokeratosis 3, multiple types"]
["MYBPC1","Arthrogryposis, distal, type 1B"]
["MYBPC1","Lethal congenital contracture syndrome 4"]
["MYBPC3","Cardiomyopathy, dilated, 1MM"]
["MYBPC3","Cardiomyopathy, familial hypertrophic, 4"]
["MYBPC3","Left ventricular noncompaction 10"]
["MYCN","Feingold syndrome 1"]
["MYD88","Pyogenic bacterial infections, recurrent, due to MYD88 deficiency"]
["MYF5","External Ophthalmoplegia, Rib, and Vertebral Anomalies"]
["MYF6","Myopathy, centronuclear, 3"]
["MYH11","Aortic aneurysm, familial thoracic 4"]
["MYH14","Deafness, autosomal dominant 4A"]
["MYH2","Inclusion body myopathy-3"]
["MYH3","Arthrogryposis, distal, type 2A"]
["MYH3","Arthrogryposis, distal, type 8"]
["MYH6","Atrial septal defect 3"]
["MYH6","Cardiomyopathy, dilated, 1EE"]
["MYH6","Cardiomyopathy, familial hypertrophic, 14"]
["MYH6","Sick sinus syndrome 3"]
["MYH7","Cardiomyopathy, dilated, 1S"]
["MYH7","Cardiomyopathy, familial hypertrophic, 1"]
["MYH7","Left ventricular noncompaction 5"]
["MYH7","Myopathy, distal, 1 (LAING)"]
["MYH7","Myopathy, myosin storage"]
["MYH7","Scapuloperoneal syndrome, myopathic type"]
["MYH8","Arthrogryposis, distal, type 7"]
["MYH8","Trismus-pseudocamptodactyly syndrome"]
["MYH9","Deafness, autosomal dominant 17"]
["MYH9","Epstein syndrome"]
["MYH9","Fechtner syndrome"]
["MYH9","Fechtner/Epstein syndrome"]
["MYH9","May-Hegglin anomaly"]
["MYH9","Sebastian syndrome"]
["MYL2","Cardiomyopathy, familial hypertrophic, 10"]
["MYL2","Myopathy congenital_MYL2"]
["MYL3","Cardiomyopathy, familial hypertrophic, 8"]
["MYL4","Atrial fibrillation, familial, 18"]
["MYLK","Aortic aneurysm, familial thoracic 7"]
["MYLK","Megacystis Microcolon Intestinal Hypoperistalsis Syndrome."]
["MYLK2","Cardiomyopathy, hypertrophic, midventricular, digenic"]
["MYO15A","Deafness, autosomal recessive 3"]
["MYO18B","Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism"]
["MYO1A","Deafness, autosomal dominant 48"]
["MYO1E","Glomerulosclerosis, focal segmental, 6"]
["MYO1E","Nephrotic syndrome-candidate_MYO1E"]
["MYO3A","Deafness, autosomal recessive 30"]
["MYO5A","Griscelli syndrome, type 1"]
["MYO5B","Microvillus inclusion disease"]
["MYO6","Deafness, autosomal dominant 22"]
["MYO6","Deafness, autosomal recessive 37"]
["MYO7A","Deafness, autosomal dominant 11"]
["MYO7A","Deafness, autosomal recessive 2"]
["MYO7A","Usher syndrome, type 1B"]
["MYOC","Glaucoma 1, open angle, A"]
["MYOT","Muscular dystrophy, limb-girdle, type 1A"]
["MYOT","Myopathy, myofibrillar, 3"]
["MYOZ2","Cardiomyopathy, familial hypertrophic, 16"]
["MYPN","Cardiomyopathy, dilated, 1KK"]
["MYPN","Cardiomyopathy, familial hypertrophic, 22"]
["MYPN","Cardiomyopathy, familial restrictive 4"]
["MYPN","Nemaline myopathy 11, autosomal recessive"]
["MYSM1","MYSM1 deficiency"]
["MYT1","Oculo-auriculo-vertebral spectrum"]
["MYT1L","Mental retardation, autosomal dominant 39"]
["NAA10","Microphthalmia, syndromic 1"]
["NAA10","Ogden syndrome"]
["NAA15","Mental retardation, autosomal dominant 50"]
["NACC1","Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"]
["NAGA","Schindler disease, type I, type II"]
["NAGLU","Charcot-Marie-Tooth disease, axonal, type 2V"]
["NAGLU","Mucopolysaccharidosis type IIIB (Sanfilippo B)"]
["NAGS","N-acetylglutamate synthase deficiency"]
["NALCN","Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay"]
["NALCN","Hypotonia, infantile, with psychomotor retardation and characteristic facies 1"]
["NANOS1","Spermatogenic failure 12"]
["NARS2","Combined oxidative phosphorylation deficiency 24"]
["NAT8L","N-acetylaspartate deficiency"]
["NBAS","Infantile liver failure syndrome 2 / Acute liver failure"]
["NBAS","Short stature, optic nerve atrophy, and Pelger-Huet anomaly"]
["NBEA","NBEA bleeding disorder"]
["NBEAL2","Gray platelet syndrome"]
["NBN","Nijmegen breakage syndrome"]
["NCAPD2","Microcephaly 21, primary, autosomal recessive"]
["NCF1","Chronic granulomatous disease due to deficiency of NCF-1"]
["NCF2","Chronic granulomatous disease due to deficiency of NCF-2"]
["NCF4","Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III"]
["NCSTN","Acne inversa, familial, 1"]
["NDE1","Lissencephaly 4 (with microcephaly)"]
["NDP","Exudative vitreoretinopathy 2, X-linked"]
["NDP","Norrie disease"]
["NDRG1","Charcot-Marie-Tooth disease, type 4D"]
["NDST1","Mental retardation, autosomal recessive 46"]
["NDUFA1","Mitochondrial complex I deficiency_NDUFA1"]
["NDUFA10","Leigh syndrome_NDUFA10"]
["NDUFA10","Mitochondrial complex I deficiency_NDUFA10"]
["NDUFA11","Mitochondrial complex I deficiency_NDUFA11"]
["NDUFA12","Leigh syndrome due to mitochondrial complex I deficiency_NDUFA12"]
["NDUFA2","Leigh syndrome due to mitochondrial complex I deficiency_NDUFA2"]
["NDUFA9","Leigh syndrome due to mitochondrial complex I deficiency_NDUFA9"]
["NDUFAF1","Mitochondrial complex I deficiency_NDUFAF1"]
["NDUFAF2","Leigh syndrome_NDUFAF2"]
["NDUFAF2","Mitochondrial complex I deficiency_NDUFAF2"]
["NDUFAF3","Mitochondrial complex I deficiency_NDUFAF3"]
["NDUFAF4","Mitochondrial complex I deficiency_NDUFAF4"]
["NDUFAF5","Mitochondrial complex I deficiency_NDUFAF5"]
["NDUFAF6","Leigh syndrome due to mitochondrial complex I deficiency_NDUFAF6"]
["NDUFB11","Linear skin defects with multiple congenital anomalies 3"]
["NDUFB3","Mitochondrial complex I deficiency_NDUFB3"]
["NDUFB8","Leigh syndrome due to mitochondrial complex I deficiency_NDUFB8"]
["NDUFB9","Mitochondrial complex I deficiency_NDUFB9"]
["NDUFS1","Mitochondrial complex I deficiency_NDUFS1"]
["NDUFS2","Mitochondrial complex I deficiency_NDUFS2"]
["NDUFS3","Leigh syndrome due to mitochondrial complex I deficiency_NDUFS3"]
["NDUFS3","Mitochondrial complex I deficiency_NDUFS3"]
["NDUFS4","Leigh syndrome_NDUFS4"]
["NDUFS4","Leigh syndrome due to mitochondrial complex I deficiency_NDUFS4"]
["NDUFS4","Mitochondrial complex I deficiency_NDUFS4"]
["NDUFS6","Mitochondrial complex I deficiency_NDUFS6"]
["NDUFS7","Leigh syndrome_NDUFS7"]
["NDUFS7","Leigh syndrome due to mitochondrial complex I deficiency_NDUFS7"]
["NDUFS8","Leigh syndrome due to mitochondrial complex I deficiency_NDUFS8"]
["NDUFV1","Mitochondrial complex I deficiency_NDUFV1"]
["NDUFV2","Hypertrophic cardiomyopathy and encephalopathy with or without hypotonia"]
["NDUFV2","Mitochondrial complex I deficiency_NDUFV2"]
["NEB","Nemaline myopathy 2, autosomal recessive"]
["NECAP1","Epileptic encephalopathy, early infantile, 21"]
["NEDD4L","Periventricular nodular heterotopia 7"]
["NEFH","ALS candidate genes"]
["NEFH","Charcot-Marie-Tooth disease, axonal, type 2CC"]
["NEFL","Charcot-Marie-Tooth disease, axonal, type 2E"]
["NEFL","Charcot-Marie-Tooth disease, type 1F"]
["NEFL","Charcot-Marie-Tooth disease, dominant intermediate G"]
["NEIL1","Nephrotic syndrome-candidate_NEIL1"]
["NEK1","Short rib-polydactyly syndrome, type 2A"]
["NEK1","Amyotrophic lateral sclerosis susceptibility_NEK1"]
["NEK2","Retinitis pigmentosa 67"]
["NEK8","Nephronophthisis 9"]
["NEK9","Lethal congenital contracture syndrome 10"]
["NEK9","Nevus Comedonicus"]
["NEU1","Sialidosis"]
["NEUROD1","Maturity-onset diabetes of the young, type VI"]
["NEUROG3","Diarrhea 4, malabsorptive, congenital"]
["NEXN","Cardiomyopathy, dilated, 1CC"]
["NEXN","Cardiomyopathy, familial hypertrophic, 20"]
["NF1","Neurofibromatosis 1"]
["NF2","Neurofibromatosis 2"]
["NFAT5","Immunodeficiency_NFAT5"]
["NFE2L2","Immunodeficiency, developmental delay, and hypohomocysteinemia"]
["NFIX","Marshall-Smith syndrome"]
["NFIX","Sotos syndrome 2"]
["NFKB1","Immunodeficiency, common variable, 12"]
["NFKB2","Immunodeficiency, common variable, 10"]
["NFKBIA","Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency"]
["NFU1","Multiple mitochondrial dysfunctions syndrome 1"]
["NGF","Neuropathy, hereditary sensory and autonomic, type V"]
["NGLY1","Congenital disorder of glycosylation, type Iv"]
["NHEJ1","Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation"]
["NHLRC1","Epilepsy, progressive myoclonic 2B (Lafora)"]
["NHP2","Dyskeratosis congenita, autosomal recessive 2"]
["NHS","Cataract 40, X-linked"]
["NHS","Nance-Horan syndrome"]
["NIN","Seckel syndrome 7"]
["NIPA1","Spastic paraplegia 6,"]
["NIPAL4","Ichthyosis, congenital, autosomal recessive 6"]
["NIPBL","Cornelia de Lange syndrome 1"]
["NKX2-1","Benign hereditary chorea"]
["NKX2-5","Atrial septal defect 7"]
["NKX2-5","Hypoplastic left heart syndrome 2"]
["NKX2-5","Hypothyroidism, congenital nongoitrous, 5"]
["NKX2-5","Hypothyroidism, congenital, nongoitrous, 5"]
["NKX2-5","Ventricular septal defect 3"]
["NKX2-5","Tetralogy of Fallot 5"]
["NKX2-5","Conotruncal heart malformations_NKX2-5"]
["NKX2-6","Conotruncal heart malformations_NKX2-6"]
["NKX3-2","Spondylo-megaepiphyseal-metaphyseal dysplasia"]
["NLGN3","Asperger syndrome susceptibility, X-linked 1"]
["NLGN4X","Mental retardation, X-linked"]
["NLRC4","Autoinflammation with infantile enterocolitis"]
["NLRP1","Autoinflammation with arthritis and dyskeratosis"]
["NLRP1","Corneal intraepithelial dyskeratosis and ectodermal dysplasia"]
["NLRP12","Familial cold autoinflammatory syndrome 2"]
["NLRP3","CINCA syndrome"]
["NLRP3","Muckle-Wells syndrome"]
["NLRP3","Deafness, autosomal dominant 34"]
["NLRP7","Hydatidiform mole"]
["NME8","Ciliary dyskinesia, primary, 6"]
["NMNAT1","Leber congenital amaurosis 9"]
["NNT","Glucocorticoid deficiency 4"]
["NOBOX","Premature ovarian failure 5"]
["NOD2","Blau syndrome"]
["NODAL","Heterotaxy, visceral, 5"]
["NOG","Multiple synostoses syndrome 1"]
["NOL3","Familial cortical myoclonus"]
["NONO","Mental retardation, X-linked, syndromic 34"]
["NOP10","Dyskeratosis congenita, autosomal recessive 1"]
["NOTCH1","Adams-Oliver syndrome 5"]
["NOTCH1","Aortic supravalvular stenosis_NOTCH1"]
["NOTCH1","Aortic valve disease 1"]
["NOTCH2","Alagille syndrome 2"]
["NOTCH3","Cadasil"]
["NOTCH3","Myofibromatosis, infantile 2"]
["NPC1","Niemann-Pick disease, type C1, D"]
["NPC1","Niemann-Pick disease, type C1, type D"]
["NPC2","Niemann-pick disease, type C2"]
["NPHP1","Bardet Biedl syndrome"]
["NPHP1","Joubert syndrome 4"]
["NPHP1","Nephronophthisis 1"]
["NPHP1","Senior Loken Syndrome-1"]
["NPHP1","Senior-Loken syndrome 1"]
["NPHP3","Meckel syndrome 7"]
["NPHP3","Nephronophthisis 3"]
["NPHP3","Renal-hepatic-pancreatic dysplasia 1"]
["NPHP4","Nephronophthisis 4"]
["NPHP4","Senior Loken Syndrome-4"]
["NPHP4","Senior-Loken syndrome 4"]
["NPHS1","Nephrotic syndrome, type 1"]
["NPHS2","Nephrotic syndrome, type 2"]
["NPPA","Atrial fibrillation, familial, 6"]
["NPR2","Acromesomelic dysplasia, Maroteaux type"]
["NPR2","Epiphyseal chondrodysplasia, Miura type"]
["NPR3","Enhanced Growth and Connective Tissue Abnormalities"]
["NPRL2","Epilepsy, familial focal, with variable foci 2"]
["NPRL3","Epilepsy, familial focal, with variable foci 3"]
["NR0B1","46XY sex reversal 2, dosage-sensitive"]
["NR0B2","Obesity, mild, early-onset"]
["NR1H4","Cholestasis, progressive familial intrahepatic, 5"]
["NR2E3","Retinitis pigmentosa 37"]
["NR2F1","Bosch-Boonstra-Schaaf optic atrophy syndrome"]
["NR2F2","Congenital heart defects, multiple types, 4"]
["NR2F2","Testis development and cardiac defects"]
["NR3C1","Cortisol resistance"]
["NR3C2","Pseudohypoaldosteronism type I, autosomal dominant"]
["NR3C2","Pseudohypoaldosteronism type IIE_NR3C2"]
["NR5A1","46XY sex reversal 3"]
["NR5A1","Premature ovarian failure 7"]
["NR5A1","Spermatogenic failure 8"]
["NR5A1","46,XX sex reversal 4"]
["NRAS","Noonan syndrome 6"]
["NRG1","Hirschsprung_candidate_NRF1"]
["NRL","Retinitis pigmentosa 27"]
["NRXN1"," Pitt-Hopkins-like syndrome 2"]
["NRXN1","Pitt-Hopkins-like syndrome 2"]
["NSD1","Sotos syndrome 1"]
["NSD1","Leukemia, Acute Myeloid, Familial 10"]
["NSDHL","CHILD syndrome / CK syndrome"]
["NSMCE2","Seckel syndrome 10"]
["NSMF","Hypogonadotropic hypogonadism 9 with or without anosmia"]
["NSUN2","Mental retardation, autosomal recessive 5"]
["NT5C2","Spastic paraplegia 45"]
["NT5C3A","Anemia, hemolytic, due to UMPH1 deficiency"]
["NT5E","Calcification of joints and arteries"]
["NTF4","Glaucoma 1, open angle, O"]
["NTHL1","Familial adenomatous polyposis 3"]
["NTN1","Arthrogryposis, distal, type 9"]
["NTN1","Congenital mirror movements_NTN1"]
["NTNG1","Rett syndrome_candidate"]
["NTRK1","Insensitivity to pain, congenital, with anhidrosis"]
["NTRK2","Obesity, hyperphagia, and developmental delay"]
["NTRK2","Epileptic encephalopathy, early infantile, 58"]
["NUBPL","Mitochondrial complex I deficiency_NUBPL"]
["NUP107","Nephrotic syndrome, type 11"]
["NUP107","Ovarian dysgenesis 6"]
["NUP155","Atrial fibrillaion familial 15"]
["NUP205","Nephrotic syndrome, type 13"]
["NUP62","Striatonigral degeneration, infantile"]
["NUP93","Nephrotic syndrome, type 12"]
["NUS1","Congenital disorder of glycosylation, type Iaa"]
["NUS1","Mental retardation, autosomal dominant 55 with seizures"]
["NXF5","X-linked FSGS with heart block"]
["NYX","Night blindness, congenital stationary (complete), 1A, X-linked"]
["OAS1","Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia"]
["OAT","Gyrate atrophy of choroid and retina with or without ornithinemia"]
["OBFC1","Cerebroretinal microangiopathy with calcifications and cysts 2"]
["OBSL1","3M syndrome 2"]
["OCA2","Albinism, oculocutaneous, type II"]
["OCLN","Pseudo TORCH syndrome 1"]
["OCRL","Dent syndrome 2"]
["OFD1","Joubert syndrome 10"]
["OFD1","Oral-facial-digital syndrome 1"]
["OFD1","Orofaciodigital syndrome I"]
["OFD1","Retinitis pigmentosa 23"]
["OFD1","Simpson-Golabi-Behmel syndrome, type 2"]
["OGDH","Alpha-ketoglutarate dehydrogenase deficiency"]
["OGT","Mental retardation, X-linked 106"]
["OPA1","Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"]
["OPA1","Optic atrophy 1"]
["OPA1","Optic atrophy plus syndrome"]
["OPA3","3-Methylglutaconic aciduria (other types) III"]
["OPA3","Optic atrophy 3"]
["OPHN1","Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance"]
["OPTN","Amyotrophic lateral sclerosis 12"]
["OPTN","Glaucoma 1, open angle, E"]
["OR2W3","Retinitis pigmentosa_OR2W3"]
["ORAI1"," Myopathy, tubular aggregate, 2"]
["ORAI1","Immunodeficiency, common variable, 9"]
["ORC1","Meier-Gorlin syndrome 1"]
["ORC4","Meier-Gorlin syndrome 2"]
["ORC6","Meier-Gorlin syndrome 3"]
["OSBPL2","Deafness, autosomal dominant 67"]
["OSMR","Amyloidosis, primary localized cutaneous, 1"]
["OSTM1","Osteopetrosis, autosomal recessive 5"]
["OTC","Ornithine transcarbamylase deficiency"]
["OTOA","Deafness, autosomal recessive 22"]
["OTOF","Deafness, autosomal recessive 9"]
["OTOG","Deafness, autosomal recessive 18B"]
["OTOGL","Deafness, autosomal recessive 84B"]
["OTX2","Agnathia-otocephaly complex 2"]
["OTX2","Microphthalmia, syndromic 5"]
["OTX2","Pituitary hormone deficiency, combined, 6"]
["OTX2","Retinal dystrophy, early-onset, with or without pituitary dysfunction"]
["OVOL2","Corneal dystrophy, posterior polymorphous, 1"]
["OXCT1","Succinyl CoA:3-oxoacid CoA transferase deficiency"]
["P2RX1","Bleeding disorder due to P2RX1 defect"]
["P2RX2","Deafness, autosomal dominant 41"]
["P2RY12","Bleeding disorder, platelet-type, 8"]
["P4HA2","Myopia 25, autosomal dominant"]
["P4HB","Cole-Carpenter syndrome"]
["PABPN1","Oculopharyngeal muscular dystrophy"]
["PACS1","Mental retardation, autosomal dominant 17 / Schuurs-Hoeijmakers syndrome"]
["PADI6","Female Infertility Characterized by Early Embryonic Arrest"]
["PAFAH1B1","Lissencephaly 1"]
["PAH","Phenylketonuria"]
["PAK3","Mental retardation, X-linked 30/47"]
["PALB2","Fanconi anemia, complementation group N"]
["PALB2","Hereditary breast_ovarian cancer_PALB2"]
["PALLD","{Pancreatic cancer, susceptibility to, 1}"]
["PAM16","Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"]
["PANK2","Neurodegeneration with brain iron accumulation 1"]
["PAPSS2","Brachyolmia 4 with mild epiphyseal and metaphyseal changes"]
["PARK2","Parkinson disease, juvenile, type 2"]
["PARK7","Parkinson disease 7, autosomal recessive early-onset"]
["PARN","Dyskeratosis congenita, autosomal recessive 6"]
["PARN","Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4"]
["PAX1","Otofaciocervical syndrome 2"]
["PAX2","Glomerulosclerosis, focal segmental, 7"]
["PAX2","Papillorenal syndrome"]
["PAX2","Renal coloboma syndrome"]
["PAX3","Waardenburg syndrome, type 1, type 3"]
["PAX4","Maturity-onset diabetes of the young, type IX"]
["PAX6","Aniridia 1"]
["PAX6","Coloboma, ocular"]
["PAX6","Foveal hypoplasia 1"]
["PAX6","Peters anomaly_PAX6"]
["PAX8","Congenital hypothyroidism 2"]
["PAX8","Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia"]
["PAX9","Tooth agenesis, selective, 3"]
["PBX1","CAKUTHED"]
["PC","Pyruvate carboxylase deficiency"]
["PCBD1","Hyperphenylalaninemia, BH4-deficient, D"]
["PCBD1","Hypomagnesemia and Renal Magnesium Wasting."]
["PCCA","Propionicacidemia_PCCA"]
["PCCB","Propionicacidemia_PCCB"]
["PCDH15","Deafness, autosomal recessive 23"]
["PCDH15","Usher syndrome, type 1F"]
["PCDH19","Epileptic encephalopathy, early infantile, 9"]
["PCDHB4","Microcephaly, global developmental delay"]
["PCK1","Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency"]
["PCK2","PEPCK deficiency, mitochondrial"]
["PCLO","Pontocerebellar hypoplasia, type 3"]
["PCNA","Ataxia-telangiectasia-like disorder 2"]
["PCNT","Microcephalic osteodysplastic primordial dwarfism, type II"]
["PCSK1","Obesity with impaired prohormone processing"]
["PCSK9","Hypercholesterolemia, familial, 3"]
["PCYT1A","Spondylometaphyseal dysplasia with cone-rod dystrophy"]
["PDCD10","Cerebral cavernous malformations 3"]
["PDE10A","Dyskinesia, limb and orofacial, infantile-onset"]
["PDE10A","Striatal degeneration, autosomal dominant 2"]
["PDE11A","Pigmented nodular adrenocortical disease, primary, 2"]
["PDE4D","Acrodysostosis 2, with or without hormone resistance"]
["PDE6A","Retinitis pigmentosa 43"]
["PDE6B","Night blindness, congenital stationary, autosomal dominant 2"]
["PDE6B","Retinitis pigmentosa 40"]
["PDE6C","Cone dystrophy 4"]
["PDE6D","Joubert syndrome 22"]
["PDE6G","Retinitis pigmentosa 57"]
["PDE6H","Retinal cone dystrophy 3A"]
["PDE8B","Pigmented nodular adrenocortical disease, primary, 3"]
["PDE8B","Striatal degeneration, autosomal dominant 1"]
["PDGFB","Basal ganglia calcification, idiopathic, 5"]
["PDGFRA","Gastrointestinal stromal tumor_PDGFRA"]
["PDGFRB","Basal ganglia calcification, idiopathic, 4"]
["PDGFRB","Myofibromatosis, infantile, 1"]
["PDHA1","Leigh syndrome, X-linked"]
["PDHA1","Pyruvate dehydrogenase E1-alpha deficiency"]
["PDHB","Pyruvate dehydrogenase E1-beta deficiency"]
["PDHX","Lacticacidemia due to PDX1 deficiency 1"]
["PDK3","Charcot-Marie-Tooth disease, X-linked dominant, 6"]
["PDP1","Pyruvate dehydrogenase phosphatase deficiency"]
["PDSS1","Coenzyme Q10 deficiency, primary, 2"]
["PDSS2","Coenzyme Q10 deficiency, primary, 3"]
["PDX1","Maturity-onset diabetes of the young, type IV"]
["PDX1","Pancreatic agenesis"]
["PDX1","Lacticacidemia due to PDX1 deficiency 2"]
["PDYN","Spinocerebellar ataxia 23"]
["PDZD7","Usher syndrome, type IIC"]
["PDZD7","Deafness, autosomal recessive 57"]
["PEPD","Prolidase deficiency"]
["PER2","Advanced sleep phase syndrome, familial, 1"]
["PER3","Advanced sleep phase syndrome, familial, 3"]
["PET100","Mitochondrial complex IV deficiency_PET100"]
["PEX1","Peroxisome biogenesis disorder 1A, 1B"]
["PEX10","Peroxisome biogenesis disorder 6A, 6B"]
["PEX11B","Peroxisome biogenesis disorder 14B"]
["PEX12","Peroxisome biogenesis disorder 3A, 3B"]
["PEX13","Peroxisome biogenesis disorder 11A, 11B"]
["PEX14","Peroxisome biogenesis disorder 13A"]
["PEX16","Peroxisome biogenesis disorder 8A, 8B"]
["PEX19","Peroxisome biogenesis disorder 12A"]
["PEX2","Peroxisome biogenesis disorder 5A, 5B"]
["PEX26","Peroxisome biogenesis disorder 7A, 7B"]
["PEX3","Peroxisome biogenesis disorder 10A"]
["PEX3","Peroxisome biogenesis disorder 10B"]
["PEX5","Chondrodysplasia punctata, rhizomelic, type 5"]
["PEX5","Peroxisome biogenesis disorder 2A, 2B"]
["PEX5","Rhizomelic chondrodysplasia punctata, type 5"]
["PEX6","Peroxisome biogenesis disorder 4A, 4B"]
["PEX7","Chondrodysplasia punctata, rhizomelic, type 1"]
["PEX7","Peroxisome biogenesis disorder 9B"]
["PEX7","Rhizomelic chondrodysplasia punctata, type 1"]
["PFKM","Glycogen storage disease VII"]
["PFN1","Amyotrophic lateral sclerosis 18"]
["PGAM2","Glycogen storage disease X"]
["PGAP1","Encephalopathy, hypotonia, microcephaly "]
["PGAP1","Mental retardation, autosomal recessive 42"]
["PGAP1","Glycosylphosphatidylinositol biosynthesis defect 9"]
["PGAP2","Hyperphosphatasia with mental retardation syndrome 3"]
["PGAP2","Glycosylphosphatidylinositol biosynthesis defect 8"]
["PGAP3","Hyperphosphatasia with mental retardation syndrome 4"]
["PGAP3","Glycosylphosphatidylinositol biosynthesis defect 10"]
["PGK1","Phosphoglycerate kinase 1 deficiency"]
["PGM1","Congenital disorder of glycosylation, type It"]
["PGM1","Glycogen storage disease XIV"]
["PGM3","Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia"]
["PGM3","Immunodeficiency 23"]
["PHC1","Microcephaly 11, primary, autosomal recessive"]
["PHEX","Hypophosphatemic rickets, X-linked dominant"]
["PHF6","Borjeson-Forssman-Lehmann syndrome"]
["PHF8","Mental retardation syndrome, X-linked, Siderius type"]
["PHGDH","Phosphoglycerate dehydrogenase deficiency"]
["PHIP","Developmental delay, intellectual disability, obesity, and dysmorphic features"]
["PHKA1","Glycogen storage disease IXd"]
["PHKA2","Glycogen storage disease, type IXa1, type IXa2"]
["PHKB","Glycogen storage disease, IXb"]
["PHKG2","Glycogen storage disease IXc"]
["PHOX2A","Fibrosis of extraocular muscles, congenital, 2"]
["PHOX2A","Central hypoventilation 4"]
["PHOX2B","Central hypoventilation syndrome, congenital, with or without Hirschsprung disease"]
["PHOX2B","Neural crest derivative tumors"]
["PHOX2B","Neuroblastoma, Hereditary"]
["PHYH","Refsum disease"]
["PI4KA","Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"]
["PIBF1","Joubert syndrome 33"]
["PIEZO1","Lymphedema, hereditary, III"]
["PIEZO2","Arthrogryposis, distal, type 3"]
["PIEZO2","Arthrogryposis, distal, type 5"]
["PIEZO2","Marden-Walker syndrome"]
["PIGA","Multiple congenital anomalies-hypotonia-seizures syndrome 2"]
["PIGA","Simpson-Golabi-Behmel syndrome"]
["PIGA","Glycosylphosphatidylinositol biosynthesis defect 4"]
["PIGG","Mental retardation, autosomal recessive 53"]
["PIGG","Glycosylphosphatidylinositol biosynthesis defect 13"]
["PIGL","CHIME syndrome"]
["PIGL","Glycosylphosphatidylinositol biosynthesis defect 5"]
["PIGM","Glycosylphosphatidylinositol biosynthesis defect 1"]
["PIGN","Multiple congenital anomalies-hypotonia-seizures syndrome 1"]
["PIGN","Glycosylphosphatidylinositol biosynthesis defect 3"]
["PIGO","Hyperphosphatasia with mental retardation syndrome 2"]
["PIGO","Glycosylphosphatidylinositol biosynthesis defect 6"]
["PIGT","Multiple congenital anomalies-hypotonia-seizures syndrome 3"]
["PIGT","Glycosylphosphatidylinositol biosynthesis defect 7"]
["PIGV","Hyperphosphatasia with mental retardation syndrome 1"]
["PIGV","Glycosylphosphatidylinositol biosynthesis defect 2"]
["PIGW","Hyperphosphatasia with mental retardation syndrome 5"]
["PIGW","Glycosylphosphatidylinositol biosynthesis defect 11"]
["PIH1D3","Ciliary dyskinesia, primary, 36, X-linked"]
["PIK3CA","CLOVE syndrome / Cowden 5"]
["PIK3CA","Cowden syndrome 5"]
["PIK3CD","Immunodeficiency 14"]
["PIK3R1","Agammaglobulinemia 7, autosomal recessive"]
["PIK3R1","Immunodeficiency 36"]
["PIK3R1","SHORT syndrome"]
["PIK3R2","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1"]
["PIK3R5","Ataxia-oculomotor apraxia 3"]
["PIKFYVE","Corneal fleck dystrophy"]
["PINK1","Parkinson disease 6, early onset"]
["PIP5K1C","Lethal congenital contracture syndrome 3"]
["PITPNM3","Cone-rod dystrophy 5"]
["PITX1","Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly"]
["PITX1","Liebenberg syndrome"]
["PITX2","Axenfeld-Rieger syndrome, type 1"]
["PITX2","Peters anomaly_PITX2"]
["PITX3","Cataract 11, multiple types / syndromic"]
["PITX3","Anterior segment mesenchymal dysgenesis / aphakia 1"]
["PKD1","Polycystic kidney disease, adult type 1"]
["PKD1L1","Heterotaxy, visceral, 8, autosomal"]
["PKD2","Polycystic kidney disease, adult type 2"]
["PKHD1","Polycystic kidney disease recessive 1"]
["PKLR","Pyruvate kinase deficiency"]
["PKP1","Ectodermal dysplasia/skin fragility syndrome"]
["PKP2","Arrhythmogenic right ventricular dysplasia 9"]
["PLA2G4A","Phospholipase A2, group IV A, deficiency of"]
["PLA2G5","Fleck retina, familial benign"]
["PLA2G6","Neurodegeneration with brain iron accumulation 2A,2B"]
["PLA2G6","Parkinson disease 14, autosomal recessive"]
["PLAGL1","Diabetes mellitus, transient neonatal"]
["PLAT","Thrombophilia, familial, due to decreased release of PLAT"]
["PLAU","Quebec platelet disorder"]
["PLCB1","Epileptic encephalopathy, early infantile, 12"]
["PLCB4","Auriculocondylar syndrome 2"]
["PLCD1","Nail disorder, nonsyndromic congenital, 3, (leukonychia)"]
["PLCE1","Nephrotic syndrome, type 3"]
["PLCG2","Autoinflammation, antibody deficiency, and immune dysregulation syndrome"]
["PLCZ1","Spermatogenic failure 17"]
["PLD3","Spinocerebellar ataxia 46"]
["PLEC","Muscular dystrophy with epidermolysis bullosa simplex"]
["PLEC","Muscular dystrophy, limb-girdle, type 2Q"]
["PLEKHG5","Charcot-Marie-Tooth disease, recessive intermediate C"]
["PLEKHG5","Spinal muscular atrophy, distal, autosomal recessive, 4"]
["PLEKHM1","Osteopetrosis, autosomal recessive 6"]
["PLG","Plasminogen deficiency, type 1"]
["PLIN1","Lipodystrophy, familial partial, type 4"]
["PLK1S1","Retinitis pigmentosa 69"]
["PLK4","Microcephaly and chorioretinopathy, autosomal recessive, 2"]
["PLK4","Microcephaly, growth failure and retinopathy"]
["PLN","Cardiomyopathy, dilated, 1P"]
["PLN","Cardiomyopathy, familial hypertrophic, 18"]
["PLOD1","Ehlers-Danlos Syndrome Type VI"]
["PLOD1","Ehlers-Danlos syndrome, type VI"]
["PLOD2","Bruck syndrome 2"]
["PLOD3","Lysyl hydroxylase 3 deficiency"]
["PLP1","Spastic paraplegia 2"]
["PMM2","Congenital disorder of glycosylation, type Ia"]
["PMM2","Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia"]
["PMP22","Charcot-Marie-Tooth disease, type 1A"]
["PMP22","Charcot-Marie-Tooth disease, type 1E"]
["PMS2","Colorectal cancer, hereditary nonpolyposis, type 4"]
["PNKD","Dystonia 8, Paroxysmal nonkinesigenic dyskinesia"]
["PNKD","Paroxysmal nonkinesigenic dyskinesia"]
["PNKP","Ataxia-oculomotor apraxia 4"]
["PNKP","Epileptic encephalopathy, early infantile, 10"]
["PNKP","Microcephaly, seizures, and developmental delay"]
["PNP","Immunodeficiency due to purine nucleoside phosphorylase deficiency"]
["PNPLA1","Ichthyosis, congenital, autosomal recessive 10"]
["PNPLA2","Neutral lipid storage disease with myopathy"]
["PNPLA6","Boucher-Neuhauser syndrome"]
["PNPLA6","Spastic paraplegia 39"]
["PNPO","Pyridoxamine 5'-phosphate oxidase deficiency"]
["PNPT1","Combined oxidative phosphorylation deficiency 13"]
["PNPT1","Deafness, autosomal recessive 70"]
["POC1A","Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis"]
["POC1B","Cone-rod dystrophy 20"]
["POF1B","Premature ovarian failure 2B"]
["POFUT1","Microcephaly, global developmental delay with cardiac and vascular features."]
["POGLUT1","Muscular dystrophy, limb-girdle, type 2Z"]
["POGZ","Mental retardation, autosomal dominant 37 / White-Sutton syndrome"]
["POLA1","Pigmentary disorder, reticulate, with systemic manifestations, X-linked"]
["POLD1","Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome"]
["POLD1","Colon cancer_POLD1"]
["POLE","FILS syndrome"]
["POLG","Mitochondrial DNA depletion syndrome 4A, 4B"]
["POLG","Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)"]
["POLG","Progressive external ophthalmoplegia, autosomal dominant 1"]
["POLG2","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"]
["POLH","Xeroderma pigmentosum, variant type"]
["POLR1A","Acrofacial Dysostosis, Cincinnati Type"]
["POLR1C","Leukodystrophy, hypomyelinating, 11"]
["POLR1C","Treacher Collins syndrome 3"]
["POLR1D","Treacher Collins syndrome 2"]
["POLR2C","Premature ovarian failure_POLR2C"]
["POLR3A","Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism"]
["POLR3A","Tremor ataxia with central hypomyelination"]
["POLR3B","Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism"]
["POMC","Obesity, adrenal insufficiency, and red hair due to POMC deficiency"]
["POMGNT1","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3"]
["POMGNT1","Muscular dystrophy, limb-girdle, type 2O"]
["POMGNT1","Retinitis pigmentosa 76"]
["POMP","Keratosis linearis with ichthyosis congenita and sclerosing keratoderma"]
["POMP","Proteasome-associated autoinflammatory syndrome, 2"]
["POMT1","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, B1, C1"]
["POMT1","Muscular dystrophy, limb-girdle, type 2K"]
["POMT2","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, B2, C2"]
["POMT2","Muscular dystrophy, limb-girdle, type 2N"]
["POP1","Anauxetic dysplasia 2"]
["POR","Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"]
["PORCN","Focal dermal hypoplasia"]
["POT1","Familial cutaneous malignant melanoma"]
["POU1F1","Pituitary hormone deficiency, combined, 1"]
["POU3F2","Obesity developmental delay intellectual disability"]
["POU3F4","Deafness, X-linked 2"]
["POU4F3","Deafness, autosomal dominant 15"]
["PPA2","Sudden Unexpected Cardiac Arrest In Infancy "]
["PPARG","Insulin resistance, severe, digenic A"]
["PPARG","Lipodystrophy, familial partial, type 3"]
["PPARG","Obesity, severe 1"]
["PPIB","Osteogenesis imperfecta, type IX"]
["PPM1D","Mental retardation, autosomal dominant"]
["PPM1D","Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)"]
["PPM1K","Maple syrup urine disease, mild variant"]
["PPOX","Porphyria variegata"]
["PPP1CB","Noonan syndrome-like disorder with loose anagen hair 2"]
["PPP1R15B","Microcephaly, short stature, and impaired glucose metabolism 2"]
["PPP1R3A","Insulin resistance, severe, digenic B"]
["PPP2R1A","Mental retardation, autosomal dominant 36"]
["PPP2R5B","Overgrowth syndrome with intellectual disability"]
["PPP2R5D","Mental retardation, autosomal dominant 35"]
["PPP3CA","Infantile or early childhood epileptic encephalopathy"]
["PPT1","Ceroid lipofuscinosis, neuronal, 1"]
["PQBP1","Mental retardation, X-linked 55"]
["PQBP1","Renpenning syndrome"]
["PRCD","Retinitis pigmentosa 36"]
["PRDM12","Congenital Insensitivity to Pain with Hypohidrosis "]
["PRDM12","Neuropathy, hereditary sensory and autonomic, type VIII"]
["PRDM13","Macular dystrophy, North Carolina type 2"]
["PRDM16","Cardiomyopathy, dilated, 1LL"]
["PRDM16","Left ventricular noncompaction 8"]
["PRDM5","Brittle cornea syndrome 2"]
["PRDM6","Patent ductus arteriosis 3"]
["PRDM8","Epilepsy, progressive myoclonic, 10"]
["PREPL","Myasthenic syndrome, congenital, 22"]
["PRF1","Hemophagocytic lymphohistiocytosis, familial, 2"]
["PRG4","Camptodactyly-arthropathy-coxa vara-pericarditis syndrome"]
["PRICKLE1","Epilepsy, progressive myoclonic 1B"]
["PRICKLE1","Progressive myoclonus epilepsy-ataxia syndrome"]
["PRKACA","Pigmented nodular adrenocortical disease, primary, 4"]
["PRKACG","Bleeding disorder, platelet-type, 19"]
["PRKAG2","Cardiomyopathy, familial hypertrophic, 6"]
["PRKAG2","Glycogen storage disease of heart, lethal congenital"]
["PRKAG2","Wolff-Parkinson-White syndrome"]
["PRKAR1A","Acrodysostosis 1, with or without hormone resistance"]
["PRKAR1A","Carney complex, types I and II"]
["PRKAR1A","Pigmented nodular adrenocortical disease, primary, 1"]
["PRKCD","Autoimmune lymphoproliferative syndrome, type III"]
["PRKCG","Spinocerebellar ataxia 14"]
["PRKCSH","Polycystic liver disease 1"]
["PRKD1","Congenital heart defects and ectodermal dysplasia"]
["PRKDC","Immunodeficiency 26, with or without neurologic abnormalities"]
["PRKG1","Aortic aneurysm, Familial thoracic 8 "]
["PRKRA","Dystonia 16"]
["PRMT7","Short stature, brachydactyly, intellectual developmental disability, and seizures"]
["PRNP","Huntington disease-like 1"]
["PROC","Thrombophilia due to protein C deficiency, autosomal dominant"]
["PRODH","Hyperprolinemia, type I"]
["PROK2","Hypogonadotropic hypogonadism 4 with or without anosmia"]
["PROKR2","Hypogonadotropic hypogonadism 3 with or without anosmia"]
["PROM1","Cone-rod dystrophy 12"]
["PROM1","Macular dystrophy, retinal, 2"]
["PROM1","Retinitis pigmentosa 41"]
["PROP1","Pituitary hormone deficiency, combined, 2"]
["PROS1","Thrombophilia due to protein S deficiency, autosomal dominant"]
["PROS1","Thrombophilia due to protein S deficiency, autosomal recessive"]
["PROSC","Vitamin-B6-Dependent Epilepsy"]
["PRPF3","Retinitis pigmentosa 18"]
["PRPF31","Retinitis pigmentosa 11"]
["PRPF4","Retinitis pigmentosa 70"]
["PRPF6","Retinitis pigmentosa 60"]
["PRPF8","Retinitis pigmentosa 13"]
["PRPH2","Leber congenital amaurosis 18"]
["PRPH2","Macular dystrophy, patterned, 1"]
["PRPH2","Macular dystrophy, vitelliform, 3"]
["PRPH2","Retinitis pigmentosa 7"]
["PRPH2","Retinitis punctata albescens 1"]
["PRPH2","Cone-rod dystrophy_PRPH2"]
["PRPS1","Arts syndrome"]
["PRPS1","Charcot-Marie-Tooth disease, X-linked recessive, 5"]
["PRPS1","Deafness, X-linked 1"]
["PRPS1","Mental retardation, X-linked syndromic 18 / Arts syndrome"]
["PRRT2","Convulsions, familial infantile, with paroxysmal choreoathetosis"]
["PRRT2","Dystonia 10"]
["PRRT2","Episodic kinesigenic dyskinesia 1"]
["PRRT2","Seizures, benign familial infantile, 2"]
["PRRX1","Agnathia-otocephaly complex 1"]
["PRSS1","Hereditary Pancreatitis_PRSS1"]
["PRSS12","Mental retardation, autosomal recessive 1"]
["PRSS56","Microphthalmia, isolated 6"]
["PRX","Charcot-Marie-Tooth disease, type 4F"]
["PSAP","Combined SAP deficiency"]
["PSAP","Gaucher disease, atypical"]
["PSAP","Krabbe disease, atypical"]
["PSAP","Metachromatic leukodystrophy due to SAP-b deficiency"]
["PSAT1","Phosphoserine aminotransferase deficiency"]
["PSEN1","Acne inversa, familial, 3"]
["PSEN1","Alzheimer disease, type 3"]
["PSEN1","Cardiomyopathy, dilated, 1U"]
["PSEN1","Dementia, frontotemporal"]
["PSEN2","Alzheimer disease-4"]
["PSEN2","Cardiomyopathy, dilated, 1V"]
["PSENEN","Acne inversa, familial, 2"]
["PSENEN","Dowling-Degos disease associated with acne inversa."]
["PSMB8","Autoinflammation, lipodystrophy, and dermatosis syndrome"]
["PSMB9","Proteasome-associated autoinflammatory syndrome 3, digenic"]
["PSMC3IP","Ovarian dysgenesis 3"]
["PSMD12","Stankiewicz-Isidor syndrome"]
["PSPH","Phosphoserine phosphatase deficiency"]
["PSTPIP1","Pyogenic sterile arthritis, pyoderma gangrenosum, and acne"]
["PTCH1","Basal Cell Nevus Syndrome 1"]
["PTCH1","Holoprosencephaly-7"]
["PTCH2","Basal cell nevus syndrome 2"]
["PTCHD1","Autism, susceptibility to, X-linked 4"]
["PTDSS1","Lenz-Majewski hyperostotic dwarfism"]
["PTEN","Cowden syndrome 1"]
["PTEN","VATER association with macrocephaly and ventriculomegaly"]
["PTF1A","Diabetes mellitus, permanent neonatal, with cerebellar agenesis"]
["PTF1A","Pancreatic agenesis 2"]
["PTH","Hypoparathyroidism"]
["PTH1R","Chondrodysplasia, Blomstrand type"]
["PTH1R","Eiken syndrome"]
["PTH1R","Failure of tooth eruption, primary"]
["PTH1R","Metaphyseal chondrodysplasia, Murk Jansen type"]
["PTHLH","Brachydactyly, type E2"]
["PTPLA","Myopathy congenital_PTPLA"]
["PTPN11","Noonan syndrome 1"]
["PTPN11","Leukemia, Acute Myeloid, Familial 11"]
["PTPN14","Choanal atresia and lymphedema"]
["PTPN23","Brain Atrophy and Developmental Delay"]
["PTPRC","Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive"]
["PTPRO","Nephrotic syndrome, type 6"]
["PTPRQ","Deafness, autosomal recessive 84A"]
["PTPRQ","Deafness, autosomal dominant 73"]
["PTRF","Lipodystrophy, congenital generalized, type 4"]
["PTRH2","Ataxia, developmental delay,hearing loss"]
["PTRH2","Infantile-onset multisystem neurologic, endocrine, and pancreatic disease"]
["PTS","Hyperphenylalaninemia, BH4-deficient, A"]
["PUF60","Verheij syndrome"]
["PURA","Mental retardation, autosomal dominant 31"]
["PUS1","Mitochondrial myopathy and sideroblastic anemia 1"]
["PUS1","Myopathy, lactic acidosis, and sideroblastic anemia 1, Mitochondrial myopathy"]
["PUS3","Mental retardation, autosomal recessive 55"]
["PVRL1","Cleft lip/palate-ectodermal dysplasia syndrome"]
["PVRL1","Orofacial cleft 7"]
["PVRL4","Ectodermal dysplasia-syndactyly syndrome 1"]
["PXDN","Corneal opacification and other ocular anomalies"]
["PYCR1","Cutis laxa, autosomal recessive, type IIB"]
["PYCR2","Leukodystrophy, hypomyelinating, 10"]
["PYGL","Glycogen storage disease VI"]
["PYGM","Glycogen storage disease V McArdle disease"]
["PYROXD1","Myopathy, myofibrillar, 8"]
["QARS","Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures"]
["QDPR","Hyperphenylalaninemia, BH4-deficient, C"]
["RAB18","Warburg micro syndrome 3"]
["RAB23","Carpenter syndrome"]
["RAB23","Carpenter syndrome 1"]
["RAB27A","Griscelli syndrome, type 2"]
["RAB28","Cone-rod dystrophy 18"]
["RAB33B","Smith-McCort dysplasia 2"]
["RAB39B","Mental retardation, X-linked 72"]
["RAB39B","Waisman syndrome"]
["RAB3GAP1","Warburg micro syndrome 1"]
["RAB3GAP2","Spastic paraplegia 69"]
["RAB3GAP2","Warburg micro syndrome 2"]
["RAB40AL","Mental retardation, X-linked, syndromic, Martin-Probst type"]
["RAB7A","Charcot-Marie-Tooth disease, axonal, type 2B"]
["RAC1","Mental retardation, autosomal dominant 48"]
["RAC2","Neutrophil immunodeficiency syndrome"]
["RAD21","Cornelia de Lange syndrome 4"]
["RAD50","Nijmegen Breakage-Like syndrome"]
["RAD51","Fanconi anemia, complementation group R"]
["RAD51C","Fanconi anemia, complementation group O"]
["RAD51D","Hereditary breast_ovarian cancer_RAD51D"]
["RAF1","Cardiomyopathy, dilated, 1NN"]
["RAF1","Noonan syndrome 5"]
["RAG1","Severe combined immunodeficiency, B cell-negative 1"]
["RAG1","OMENN Syndrome 2"]
["RAG2","Severe combined immunodeficiency, B cell-negative 2"]
["RAG2","OMENN Syndrome 3"]
["RAI1","Smith Magenis syndrome"]
["RAPSN","Myasthenic syndrome, congenital, 11"]
["RARB","Microphthalmia, syndromic 12"]
["RARS","Leukodystrophy, hypomyelinating, 9"]
["RARS2","Pontocerebellar hypoplasia, type 6"]
["RASA1","Parkes Weber syndrome"]
["RASGRP1","Autoimmune lymphoproliferative syndrome_RASGRP1"]
["RASGRP2","Bleeding disorder, platelet-type, 18"]
["RAX","Microphthalmia, isolated 3"]
["RAX2","Cone-rod dystrophy 11"]
["RAX2","Macular degeneration, age-related, 6"]
["RB1","Retinoblastoma"]
["RBBP8","Seckel syndrome 2"]
["RBCK1","Polyglucosan body myopathy 1 with or without immunodeficiency"]
["RBM10","TARP syndrome"]
["RBM20","Cardiomyopathy, dilated, 1DD"]
["RBM28","Alopecia, neurologic defects, and endocrinopathy syndrome"]
["RBM8A","Thrombocytopenia with absent radius"]
["RBMX","Mental retardation, X-linked, syndromic 11, Shashi type"]
["RBP3","Retinitis pigmentosa 66"]
["RBP4","Microphthalmia, isolated, with coloboma 10"]
["RBP4","Retinal dystrophy, iris coloboma, and comedogenic acne syndrome"]
["RBPJ","Adams-Oliver syndrome 3"]
["RCBTB1","Isolated and Syndromic Retinal Dystrophy"]
["RD3","Leber congenital amaurosis 12"]
["RDH11","Retinal dystrophy, juvenile cataracts, and short stature syndrome"]
["RDH12","Leber congenital amaurosis 13"]
["RDH12","Retinitis pigmentosa 53"]
["RDH5","Retinitis punctata albescens 3"]
["RDX","Deafness, autosomal recessive 24"]
["RECQL4","Rothmund-Thomson syndrome"]
["REEP1","Neuronopathy, distal hereditary motor, type VB"]
["REEP1","Spastic paraplegia 31"]
["REEP2","Spastic paraplegia 72, autosomal recessive, recessve"]
["REEP6","Retinitis pigmentosa 77"]
["RELN","Epilepsy, familial temporal lobe, 7"]
["RELN","Lissencephaly 2 (Norman-Roberts type)"]
["REN","Hyperuricemic nephropathy, familial juvenile 2"]
["REN","Renal tubular dysgenesis 4"]
["RERE","Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"]
["REST","Fibromatosis, gingival, 5"]
["RET","Multiple endocrine neoplasia IIA IIB"]
["RET","CAKUT 5"]
["RET","Central hypoventilation 3"]
["RET","Hirschsprung disease, susceptibility to, 1"]
["RFC2","Williams syndrome critical region_RFC2"]
["RFT1","Congenital disorder of glycosylation, type In"]
["RFX5","Bare lymphocyte syndrome, type II, complementation group C"]
["RFX6","Mitchell-Riley syndrome"]
["RFX6","Maturity-onset diabetes of the young_RFX6"]
["RFXANK","MHC class II deficiency, complementation group B"]
["RFXAP","Bare lymphocyte syndrome, type II, complementation group D"]
["RGR","Retinitis pigmentosa 44"]
["RGS9","Bradyopsia 1"]
["RGS9BP","Bradyopsia 2"]
["RHAG","Anemia, hemolytic, Rh-null, regulator type"]
["RHAG","Rh Associated Glycoprotein, Anemia, hemolytic, Rh-null, regulator type"]
["RHBDF2","Tylosis with esophageal cancer"]
["RHCE","RHCE, Rhesus Blood group"]
["RHD","RHD"]
["RHO","Night blindness, congenital stationary, autosomal dominant 1"]
["RHO","Retinitis pigmentosa 4, autosomal dominant or recessive"]
["RHO","Retinitis punctata albescens 2"]
["RHOH","Immunodeficiency_RHOH"]
["RIMS1","Cone-rod dystrophy 7"]
["RIN2","Macrocephaly, alopecia, cutis laxa, and scoliosis"]
["RIPK4","Popliteal pterygium syndrome 2, lethal type"]
["RIPK4","CHAND syndrome"]
["RIPPLY2","Spondylocostal dysostosis 6"]
["RIT1","Noonan syndrome 8"]
["RLBP1","Bothnia retinal dystrophy"]
["RLBP1","Retinitis punctata albescens 4"]
["RLIM","Mental retardation, X-linked 61"]
["RMND1","Combined oxidative phosphorylation deficiency 11"]
["RMRP","Anauxetic dysplasia 1"]
["RMRP","Metaphyseal dysplasia without hypotrichosis"]
["RNASEH1","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"]
["RNASEH2A","Aicardi-Goutieres syndrome 4"]
["RNASEH2B","Aicardi-Goutieres syndrome 2"]
["RNASEH2C","Aicardi-Goutieres syndrome 3"]
["RNASET2","Leukoencephalopathy, cystic, without megalencephaly"]
["RNF113A","Trichothiodystrophy 5, nonphotosensitive"]
["RNF125","Tenorio syndrome"]
["RNF135","Macrocephaly, macrosomia, facial dysmorphism syndrome"]
["RNF168","RIDDLE syndrome"]
["RNF170","Ataxia, sensory, 1, autosomal dominant"]
["RNF213","Moyamoya disease 2, susceptibility to"]
["RNF216","Cerebellar ataxia and hypogonadotropic hypogonadism"]
["RNF216","Gordon Holmes Syndrome"]
["RNF43","Sessile serrated polyposis cancer syndrome"]
["RNU12","early onset cerebellar ataxia"]
["RNU4ATAC","Microcephalic osteodysplastic primordial dwarfism, type I"]
["ROBO2","Vesicoureteral reflux 2"]
["ROBO3","Gaze palsy, horizontal, with progressive scoliosis 1"]
["ROGDI","Kohlschutter-Tonz syndrome"]
["ROM1","Retinitis pigmentosa 7, digenic"]
["ROR2","Robinow syndrome, autosomal recessive"]
["RORA","Intellectual developmental disorder with or without epilepsy or cerebellar ataxia"]
["RORC","Immunodeficiency 42"]
["RP1","Retinitis pigmentosa 1"]
["RP1L1","Occult macular dystrophy"]
["RP2","Retinitis pigmentosa 2"]
["RP9","Retinitis pigmentosa 9"]
["RPE65","Leber congenital amaurosis 2"]
["RPE65","Retinitis pigmentosa 20"]
["RPGR","Cone-rod dystrophy, X-linked, 1"]
["RPGR","Macular degeneration, X-linked atrophic"]
["RPGR","Retinitis pigmentosa 3"]
["RPGR","Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness"]
["RPGRIP1","Cone-rod dystrophy 13"]
["RPGRIP1","Leber congenital amaurosis 6"]
["RPGRIP1L","Joubert syndrome 7"]
["RPGRIP1L","Meckel syndrome 5"]
["RPGRIP1L","Nephronophthisis 8"]
["RPGRIP1L","COACH syndrome 3"]
["RPIA","Ribose 5-phosphate isomerase deficiency"]
["RPL10","Mental Retardation, X-Linked, Syndromic, 35"]
["RPL11","Diamond-Blackfan anemia 7"]
["RPL15","Diamond-Blackfan anemia 12"]
["RPL21","Hypotrichosis 12"]
["RPL26","Diamond-Blackfan anemia 11"]
["RPL27","Diamond-Blackfan anemia 16"]
["RPL35A","Diamond-Blackfan anemia 5"]
["RPL36","Diamond-Blackfan anemia candidate_RPL36\n"]
["RPL5","Diamond-Blackfan anemia 6"]
["RPS10","Diamond-Blackfan anemia 9"]
["RPS15","Diamond-Blackfan anemia candidate_RPS15"]
["RPS17","Diamond-Blackfan anemia 4"]
["RPS19","Diamond-Blackfan anemia 1"]
["RPS24","Diamond-blackfan anemia 3"]
["RPS26","Diamond-Blackfan anemia 10"]
["RPS27","Diamond-Blackfan anemia 17"]
["RPS27A","Diamond-Blackfan anemia candidate_RPS27A"]
["RPS28","Diamond Blackfan anemia 15 with mandibulofacial dysostosis"]
["RPS29","Diamond-Blackfan anemia 13"]
["RPS6KA3","Coffin-Lowry syndrome"]
["RPS6KA3","Mental retardation, X-linked 19"]
["RPS7","Diamond-Blackfan anemia 8"]
["RPSA","Asplenia, isolated congenital"]
["RRAS","RASopathy_RRAS"]
["RRM2B","Mitochondrial DNA depletion syndrome 8A, 8B"]
["RRM2B","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5"]
["RS1","Retinoschisis"]
["RSPH1","Ciliary dyskinesia, primary, 24"]
["RSPH3","Ciliary dyskinesia, primary, 32"]
["RSPH4A","Ciliary dyskinesia, primary, 11"]
["RSPH9","Ciliary dyskinesia, primary, 12"]
["RSPO1","Palmoplantar hyperkeratosis and true hermaphroditism"]
["RSPO4","Anonychia congenita"]
["RSPRY1","Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type"]
["RSRC1","Intellectual disability, aberrant behaviour, hypotonia and mild facial dysmorphism"]
["RTEL1","Dyskeratosis congenita, autosomal recessive 5, autosomal dominant 4"]
["RTEL1","Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3"]
["RTN2","Spastic paraplegia 12"]
["RTN4IP1","Optic atrophy 10 with or without ataxia, mental retardation, and seizures"]
["RTTN","Microcephaly, short stature, and polymicrogyria with seizures"]
["RUNX1","Familial platelet disorder, with predisposition to AML, with associated myeloid malignancy "]
["RUNX1","Leukemia, Acute Myeloid, Familial 12"]
["RUNX2","Cleidocranial dysplasia"]
["RUNX2","Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"]
["RXFP2","Cryptorchidism_RXFP2"]
["RYR1","Central core disease"]
["RYR1","Minicore myopathy with external ophthalmoplegia"]
["RYR2","Arrhythmogenic right ventricular dysplasia 2"]
["RYR2","Ventricular tachycardia, catecholaminergic polymorphic, 1"]
["RYR3","Nemaline myopathy_RYR3"]
["S1PR2","Deafness, autosomal recessive 68"]
["SACS","ARSACS"]
["SACS","Spastic ataxia 6, autosomal recessive"]
["SAG","Oguchi disease-1"]
["SAG","Retinitis pigmentosa 47"]
["SALL1","Townes-Brocks syndrome 1"]
["SALL2","Coloboma, ocular, autosomal recessive"]
["SALL4","Duane-radial ray syndrome / IVIC SNDROME"]
["SALL4","IVIC syndrome"]
["SAMD9","MIRAGE syndrome"]
["SAMD9","Tumoral calcinosis, familial, normophosphatemic"]
["SAMD9L","Ataxia-pancytopenia"]
["SAMHD1","Aicardi-Goutieres syndrome 5"]
["SAR1B","Chylomicron retention disease"]
["SARS","Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS)"]
["SARS2","Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis"]
["SASS6","Microcephaly 14, primary, autosomal recessive"]
["SATB2","Glass syndrome"]
["SBDS","Schwachman Diamond syndrome 1"]
["SBF1","Charcot-Marie-Tooth disease, type 4B3"]
["SBF2","Charcot-Marie-Tooth disease, type 4B2"]
["SC5D","Lathosterolosis"]
["SCARB2","Epilepsy, progressive myoclonic 4, with or without renal failure"]
["SCARB2","FSGS_SCARB2"]
["SCARF2","Van den Ende-Gupta syndrome"]
["SCN10A","Episodic pain syndrome, familial, 2"]
["SCN11A","Episodic pain syndrome, familial, 3"]
["SCN11A","Neuropathy, hereditary sensory and autonomic, type VII"]
["SCN1A","Dravet syndrome"]
["SCN1A","Epilepsy, generalized, with febrile seizures plus, type 2"]
["SCN1A","Migraine, familial hemiplegic, 3"]
["SCN1B","Atrial fibrillation, familial, 13"]
["SCN1B","Brugada syndrome 5"]
["SCN1B","Epilepsy, generalized, with febrile seizures plus, type 1"]
["SCN1B","Epileptic encephalopathy, early infantile, 52"]
["SCN2A","Epileptic encephalopathy, early infantile, 11"]
["SCN2A","Seizures, benign familial infantile, 3"]
["SCN2B","Atrial fibrillation, familial, 14"]
["SCN3A","Epileptic encephalopathy, early infantile, 62"]
["SCN3A","Epilepsy, familial focal, with variable foci 4"]
["SCN3B","Atrial fibrillaion familial 16"]
["SCN3B","Brugada syndrome 7"]
["SCN4A","Hyperkalemic periodic paralysis, type 2"]
["SCN4A","Hypokalemic periodic paralysis 2"]
["SCN4A","Hypokalemic periodic paralysis, Hyperkalemic periodic paralysis"]
["SCN4A","Myasthenic syndrome, congenital, 16"]
["SCN4A","Paramyotonia congenita"]
["SCN4A","Myopathy congenital_SCN4A"]
["SCN4B","Atrial fibrillation familial 1"]
["SCN4B","Long QT syndrome 10"]
["SCN5A","Atrial fibrillation, familial, 10"]
["SCN5A","Brugada syndrome 1"]
["SCN5A","Cardiomyopathy, dilated, 1E"]
["SCN5A","Heart block, progressive, type IA"]
["SCN5A","Long QT syndrome 3"]
["SCN5A","Sick sinus syndrome 1"]
["SCN5A","Ventricular fibrillation, familial, 1"]
["SCN8A","Cognitive impairment with or without cerebellar ataxia"]
["SCN8A","Epileptic encephalopathy, early infantile, 13"]
["SCN8A","Seizures, benign familial infantile, 5"]
["SCN9A","Epilepsy, generalized, with febrile seizures plus, type 7"]
["SCN9A","HSN 2D"]
["SCNN1A","Bronchiectasis with or without elevated sweat chloride 2"]
["SCNN1A","Pseudohypoaldosteronism, type I, autosomal recessive 1"]
["SCNN1B","Bronchiectasis with or without elevated sweat chloride 1"]
["SCNN1B","Liddle syndrome_SCNN1B"]
["SCNN1B","Pseudohypoaldosteronism, type I, autosomal recessive 2"]
["SCNN1G","Bronchiectasis with or without elevated sweat chloride 3"]
["SCNN1G","Pseudohypoaldosteronism, type I, autosomal recessive 3"]
["SCNN1G","Liddle syndrome_SCNN1G"]
["SCO1","Mitochondrial complex IV deficiency_SCO1"]
["SCO2","Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1"]
["SCO2","Myopia 6"]
["SCO2","Spinal muscular atrophy, recessive, proximal_SCO2"]
["SCP2","Leukoencephalopathy with dystonia and motor neuropathy"]
["SCT","Spondylocarpotarsal synostosis syndrome"]
["SCYL1","Spinocerebellar ataxia, autosomal recessive 21"]
["SCYL1","Acute liver failure and neurodegeneration"]
["SDCCAG8","Bardet-Biedl syndrome 16"]
["SDCCAG8","Nephronophthisis 10"]
["SDCCAG8","Senior Loken Syndrome-7"]
["SDCCAG8","Senior-Loken syndrome 7"]
["SDHA","Paragangliomas 5"]
["SDHA","Leigh syndrome_SDHA"]
["SDHA","Mitochondrial complex II deficiency_SDHA"]
["SDHAF1","Mitochondrial complex II deficiency_SDHAF1"]
["SDHAF2","Paragangliomas 2"]
["SDHB","Cowden syndrome 2"]
["SDHB","Paragangliomas 4"]
["SDHB","Gastrointestinal stromal tumor_SDHB"]
["SDHC","Paragangliomas 3"]
["SDHC","Gastrointestinal stromal tumor_SDHC"]
["SDHD","Cowden syndrome 3"]
["SDHD","Paragangliomas 1, with or without deafness"]
["SDHD","Mitochondrial complex II deficiency_SDHD"]
["SDR9C7","Ichthyosis, congenital, autosomal recessive 13"]
["SEC23A","Craniolenticulosutural dysplasia"]
["SEC23B","Anemia, dyserythropoietic congenital, type II"]
["SEC23B","Cowden syndrome 7"]
["SEC24D","Cole-Carpenter syndrome 2"]
["SEC61A1","Hyperuricemic nephropathy, familial juvenile, 4"]
["SEC63","Polycystic liver disease 2"]
["SECISBP2","Thyroid hormone metabolism, abnormal"]
["SEMA3A","Hypogonadotropic hypogonadism 16 with or without anosmia"]
["SEMA3E","CHARGE syndrome 2"]
["SEMA4A","Cone-rod dystrophy 10"]
["SEMA4A","Retinitis pigmentosa 35"]
["SEMA7A","John Milton Haegan"]
["SEPN1","Muscular dystrophy, rigid spine, 1"]
["SEPN1","Myopathy, congenital, with fiber-type disproportion"]
["SEPN1","Rigid spine syndrome (RSMD1)"]
["SEPSECS","Pontocerebellar hypoplasia type 2D"]
["SEPT12","Spermatogenic failure 10"]
["SEPT9","Amyotrophy, hereditary neuralgic"]
["SERAC1","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"]
["SERAC1","Spastic paraplegia_SERAC1"]
["SERPINA1","Alpha-1 antitrypsin deficiency"]
["SERPINA6","Corticosteroid-binding globulin deficiency"]
["SERPINA7","Thyroxine-binding globulin deficiency"]
["SERPINB6","Deafness, autosomal recessive 91"]
["SERPINB7","Palmoplantar keratoderma, Nagashima type"]
["SERPINB8","Ichthyosis, congenital, autosomal recessive, peeling skin syndrome 5"]
["SERPINB8","Peeling skin syndrome 5"]
["SERPINC1","Thrombophilia due to antithrombin III deficiency"]
["SERPIND1","Thrombophilia due to heparin cofactor II deficiency"]
["SERPINE1","PAI1 deficiency"]
["SERPINF1","Osteogenesis imperfecta, type VI"]
["SERPINF2","Alpha-2-Plasmin inhibitor deficiency"]
["SERPING1","Angioedema, hereditary, types I and II"]
["SERPING1","Complement component 4, partial deficiency of"]
["SERPINH1","Osteogenesis imperfecta, type X"]
["SERPINI1","Encephalopathy, familial, with neuroserpin inclusion bodies"]
["SETBP1","Mental retardation, autosomal dominant 29"]
["SETBP1","Schinzel-Giedion midface retraction syndrome"]
["SETD2","Luscan-Lumish syndrome"]
["SETD5","Mental retardation, autosomal dominant 23"]
["SETX","Amyotrophic lateral sclerosis 4"]
["SETX","Ataxia-oculomotor apraxia 2"]
["SF3B4","Acrofacial dysostosis 1, Nager type"]
["SFTPA1","Pulmonary fibrosis, idiopathic, susceptibility to_SFTPA1"]
["SFTPA2","Pulmonary fibrosis, idiopathic"]
["SFTPB","Surfactant metabolism dysfunction, pulmonary, 1"]
["SFTPC","Surfactant metabolism dysfunction, pulmonary, 2"]
["SFTPD","Surfactant metabolism dysfunction, pulmonary, "]
["SFXN4","Combined oxidative phosphorylation deficiency 18"]
["SGCA","Muscular dystrophy, limb-girdle, type 2D"]
["SGCB","Muscular dystrophy, limb-girdle, type 2E"]
["SGCD","Cardiomyopathy, dilated, 1L"]
["SGCD","Muscular dystrophy, limb-girdle, type 2F"]
["SGCE","Dystonia 11, Myoclonus dystonia"]
["SGCG","Muscular dystrophy, limb-girdle, type 2C"]
["SGK196","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12"]
["SGK196","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12"]
["SGOL1","Chronic atrial and intestinal dysrhythmia"]
["SGPL1","Charcot-Marie-Tooth disease"]
["SGPL1","Nephrotic syndrome_SGPL1"]
["SGSH","Mucopolysaccharidisis type IIIA (Sanfilippo A)"]
["SH2D1A","Lymphoproliferative syndrome, X-linked, 1"]
["SH3BP2","Cherubism"]
["SH3GL1","Leukemia, Acute Myeloid, Familial 13"]
["SH3PXD2B","Frank-ter Haar syndrome"]
["SH3TC2","Charcot-Marie-Tooth disease, type 4C"]
["SHANK3","Phelan-McDermid syndrome"]
["SHFM1","Split hand/foot malformation 1"]
["SHH","Holoprosencephaly-3"]
["SHH","Microphthalmia with coloboma 5"]
["SHOC2","Noonan-like syndrome with loose anagen hair"]
["SHOX","Langer mesomelic dysplasia"]
["SHOX","Short stature, idiopathic familial"]
["SHPK","Sedoheptulokinase deficiency"]
["SHROOM4","Stocco dos Santos X-linked mental retardation syndrome"]
["SI","Sucrase-isomaltase deficiency, congenital"]
["SIGMAR1","Amyotrophic lateral sclerosis 16"]
["SIGMAR1","Spinal muscular atrophy, distal, autosomal recessive, 2"]
["SIK1","Epileptic encephalopathy, early infantile, 30"]
["SIL1","Marinesco-Sjogren syndrome"]
["SIM1","Obesity, severe 2"]
["SIPA1L3","Cataract 45"]
["SIX1","Brachiootic syndrome 3"]
["SIX1","Branchiootic syndrome 3"]
["SIX1","Deafness, autosomal dominant 23"]
["SIX2","CAKUT 6"]
["SIX3","Holoprosencephaly-2"]
["SIX5","Branchiootorenal syndrome 2"]
["SIX6","Microphthalmia with cataract 2"]
["SKI","Shprintzen-Goldberg syndrome"]
["SKIV2L","Trichohepatoenteric syndrome 2"]
["SLC10A2","Bile acid malabsorption, primary"]
["SLC11A2","Anemia, hypochromic microcytic, with iron overload 1"]
["SLC12A1","Bartter syndrome, type 1"]
["SLC12A3","Gitleman syndrome"]
["SLC12A5","Epileptic encephalopathy, early infantile, 34"]
["SLC12A6","Agenesis of the corpus callosum with peripheral neuropathy"]
["SLC12A6","Andermann syndrome"]
["SLC13A5","Epileptic encephalopathy, early infantile, 25"]
["SLC14A1","Blood group, Kidd"]
["SLC16A1","Hyperinsulinemic hypoglycemia, familial, 7"]
["SLC16A12","Cataract 47"]
["SLC16A2","Spastic paraplegia 22"]
["SLC17A5","Sialic acid storage disorder, infantile"]
["SLC17A8","Deafness, autosomal dominant 25"]
["SLC17A9","Porokeratosis 8, disseminated superficial actinic type"]
["SLC18A3","Myasthenic syndrome, congenital, 21, presynaptic"]
["SLC19A2","Thiamine-responsive megaloblastic anemia syndrome"]
["SLC19A3","Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)"]
["SLC1A1","Dicarboxylic aminoaciduria"]
["SLC1A2","Epileptic encephalopathy, early infantile, 41"]
["SLC1A3","Episodic ataxia, type 6"]
["SLC20A2","Basal ganglia calcification, idiopathic, 1"]
["SLC22A12","Hypouricemia, renal, 1"]
["SLC22A5","Carnitine acetyltransferase deficiency"]
["SLC22A5","Carnitine deficiency, systemic primary"]
["SLC24A1","Night blindness, congenital stationary (complete), 1D, autosomal recessive"]
["SLC24A4","Amelogenesis imperfecta, type IIA5"]
["SLC24A5","Albinism, oculocutaneous, type VI"]
["SLC25A1","Combined D-2- and L-2-hydroxyglutaric aciduria"]
["SLC25A12","Epileptic encephalopathy, early infantile, 39"]
["SLC25A13","Citrullinemia type II"]
["SLC25A15","Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"]
["SLC25A19","Microcephaly, Amish type"]
["SLC25A19","Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)"]
["SLC25A2","Comprehensive hearing loss panel"]
["SLC25A20","Carnitine acylcarnitine translocase deficiency"]
["SLC25A20","Carnitine-acylcarnitine translocase deficiency"]
["SLC25A22","Epileptic encephalopathy, early infantile, 3"]
["SLC25A26","Combined oxidative phosphorylation deficiency 28"]
["SLC25A3","Mitochondrial phosphate carrier deficiency"]
["SLC25A38","Anemia, sideroblastic, 2, pyridoxine-refractory, autosomal recessive"]
["SLC25A4","Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)"]
["SLC25A4","Progressive external ophthalmoplegia with mitochondrial DNA deletions 3"]
["SLC25A46","Neuropathy, hereditary motor and sensory, type VIB"]
["SLC25A6","Intracranial Aneurysm and Subarachnoid Hemorrhage"]
["SLC26A1","Nephrolithiasis"]
["SLC26A2","Achondrogenesis IB"]
["SLC26A2","Atelosteogenesis II"]
["SLC26A2","De la Chapelle dysplasia"]
["SLC26A2","Diastrophic dysplasia"]
["SLC26A2","Epiphyseal dysplasia, multiple, 4"]
["SLC26A3","Diarrhea 1, secretory chloride, congenital /Chloride diarrhea, congenital, Finnish type"]
["SLC26A4","Deafness, autosomal recessive 4"]
["SLC26A4","Deafness, autosomal recessive 4, with enlarged vestibular aqueduct"]
["SLC26A4","Pendred syndrome"]
["SLC26A5","Deafness, autosomal recessive 61"]
["SLC26A8","Spermatogenic failure 3"]
["SLC27A4","Ichthyosis prematurity syndrome"]
["SLC29A1","AUG antigen"]
["SLC29A3","Histiocytosis-lymphadenopathy plus syndrome"]
["SLC2A1","Dystonia 9, "]
["SLC2A1","Glucose transporter 1 deficiency syndrome"]
["SLC2A1","GLUT1 deficiency syndrome"]
["SLC2A1","GLUT1 deficiency syndrome 1, infantile onset, severe"]
["SLC2A10","Arterial tortuosity syndrome"]
["SLC2A2","Fanconi-Bickel syndrome"]
["SLC2A9","Hypouricemia, renal, 2"]
["SLC30A10","Hypermanganesemia with dystonia 1"]
["SLC33A1","Spastic paraplegia 42"]
["SLC34A1","Fanconi renotubular syndrome 2"]
["SLC34A1","Idiopathic Infantile Hypercalcemia"]
["SLC34A2","Pulmonary alveolar microlithiasis"]
["SLC34A3","Hypophosphatemic rickets with hypercalciuria"]
["SLC35A1","Congenital disorder of glycosylation, type IIf"]
["SLC35A2","Congenital disorder of glycosylation, type IIm"]
["SLC35C1","Congenital disorder of glycosylation, type IIc"]
["SLC35D1","Schneckenbecken dysplasia"]
["SLC37A4","Glycogen storage disease Ib, Ic"]
["SLC38A8","Foveal hypoplasia 2"]
["SLC39A13","Spondylocheirodysplasia, Ehlers-Danlos syndrome-like"]
["SLC39A14","Hypermanganesemia with dystonia 2"]
["SLC39A4","Acrodermatitis enteropathica"]
["SLC39A5","Myopia 24, autosomal dominant"]
["SLC39A8","Congenital disorder of glycosylation, type IIn"]
["SLC3A1","Cystinuria_SLC3A1"]
["SLC40A1","Hemochromatosis, type 4"]
["SLC44A4","Deafness, autosomal dominant 72"]
["SLC45A2","Albinism, oculocutaneous, type IV"]
["SLC46A1","Folate malabsorption, hereditary"]
["SLC4A1","Blood group, Diego"]
["SLC4A1","Renal tubular acidosis, distal"]
["SLC4A1","Renal tubular acidosis, distal, AD"]
["SLC4A1","Spherocytosis, type 4"]
["SLC4A11","Corneal dystrophy, Fuchs endothelial, 4"]
["SLC4A11","Corneal endothelial dystrophy 2, autosomal recessive"]
["SLC4A3","Short QT syndrome_SLC4A3"]
["SLC4A4","Renal tubular acidosis, proximal, with ocular abnormalities"]
["SLC52A1","Riboflavin deficiency"]
["SLC52A2","Brown-Vialetto-Van Laere syndrome 2"]
["SLC52A3","Brown-Vialetto Van Laere syndrome"]
["SLC52A3","Brown-Vialetto-Van Laere syndrome 1"]
["SLC5A1","Glucose/galactose malabsorption"]
["SLC5A2","Renal glucosuria"]
["SLC5A5","Thyroid dyshormonogenesis 1"]
["SLC5A7","Neuronopathy, distal hereditary motor, type VIIA"]
["SLC6A1","Epilepsy with Myoclonic-Atonic Seizures"]
["SLC6A17","Mental retardation, autosomal recessive 48"]
["SLC6A19","Hartnup disorder"]
["SLC6A20","Hyperglycinuria"]
["SLC6A3","Parkinsonism-dystonia, infantile"]
["SLC6A5","Hyperekplexia 3"]
["SLC6A8","Cerebral creatine deficiency syndrome 1"]
["SLC6A9","Glycine encephalopathy with normal serum glycine"]
["SLC7A14","Retinitis pigmentosa 68"]
["SLC7A7","Lysinuric protein intolerance"]
["SLC7A9","Cystinuria_SLC7A9"]
["SLC9A1","Spinocerebellar ataxia, autosomal recessive 19"]
["SLC9A3","Diarrhea 8, secretory sodium, congenital"]
["SLC9A3R1","Nephrolithiasis/osteoporosis, hypophosphatemic, 2"]
["SLC9A6","Mental retardation, X-linked syndromic, Christianson type"]
["SLCO1B1","Hyperbilirubinemia, Rotor type, digenic A"]
["SLCO1B3","Hyperbilirubinemia, Rotor type, digenic B"]
["SLCO2A1","Hypertrophic osteoarthropathy, primary, autosomal recessive 2"]
["SLFN14","Bleeding disorder, platelet-type, 20"]
["SLITRK6","Deafness and myopia"]
["SLURP1","Meleda disease"]
["SLX4","Fanconi anemia, complementation group P"]
["SMAD3","Loeys-Dietz syndrome 3"]
["SMAD3","Loeys-Dietz syndrome, type 3"]
["SMAD4","Juvenile polyposis"]
["SMAD4","Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome"]
["SMAD4","Myhre syndrome"]
["SMAD6","Aortic valve disease 2"]
["SMAD6","Craniosynostosis 7"]
["SMAD9","Pulmonary hypertension, primary, 2"]
["SMARCA2","Nicolaides-Baraitser syndrome"]
["SMARCA4","Coffin-Siris syndrome 4"]
["SMARCA4","Mental retardation, autosomal dominant 16 / Coffin Siris"]
["SMARCA4","Rhabdoid tumor predisposition syndrome 2"]
["SMARCA4","SMARCA4 tumor syndrome"]
["SMARCAL1","Schimke immunoosseous dysplasia"]
["SMARCB1","Coffin-Siris syndrome 3"]
["SMARCB1","Mental retardation, autosomal dominant 15 / Coffin Siris"]
["SMARCB1","Rhabdoid Predisposition Syndrome"]
["SMARCC1","Neural tube defects_SMARCC1"]
["SMARCE1","Coffin-Siris syndrome 5"]
["SMC1A","Cornelia de Lange syndrome 2"]
["SMC3","Cornelia de Lange syndrome 3"]
["SMCHD1","Arhinia microphthalmia"]
["SMCHD1","FSHD2"]
["SMG9","Heart and brain malformation syndrome"]
["SMIM1","Vel antigen"]
["SMO","Vascular malformation_SMO"]
["SMOC1","Microphthalmia with limb anomalies"]
["SMOC2","Dentin dysplasia, type I, with microdontia and misshapen teeth"]
["SMPD1","Niemann-Pick disease, type A, type B"]
["SMPX","Deafness, X-linked 4"]
["SMS","Mental retardation, X-linked, Snyder-Robinson type"]
["SNAI2","Waardenburg syndrome, type 2D"]
["SNAP25","Epileptic encephalopathy_SNAP25"]
["SNAP29","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"]
["SNCA","Parkinson disease 1, 4"]
["SNCB","Dementia, Lewy body"]
["SNCB","Lewy body disease"]
["SNIP1","Psychomotor retardation, epilepsy, and craniofacial dysmorphism"]
["SNORD118","Leukoencephalopathy with calcification and cysts"]
["SNRNP200","Retinitis pigmentosa 33"]
["SNRPB","Cerebrocostomandibular syndrome"]
["SNRPE","Hypotrichosis 11"]
["SNTA1","Long QT syndrome 12"]
["SNX10","Osteopetrosis, autosomal recessive 8"]
["SNX14","Spinocerebellar ataxia, autosomal recessive 20"]
["SOBP","Mental retardation, anterior maxillary protrusion, and strabismus"]
["SOD1","Amyotrophic lateral sclerosis 1"]
["SOHLH1","Ovarian dysgenesis 5"]
["SON","ZTTK syndrome"]
["SOS1","Noonan syndrome 4"]
["SOS1","Fibromatosis, gingival, 1"]
["SOS2","Noonan syndrome 9"]
["SOST","Craniodiaphyseal dysplasia, autosomal dominant"]
["SOST","Van Buchem disease"]
["SOX10","PCWH syndrome"]
["SOX10","Waardenburg syndrome, type 2E, with or without neurologic involvement"]
["SOX10","Waardenburg syndrome, type 4C"]
["SOX11","Mental retardation, autosomal dominant 27"]
["SOX11","Mental retardation, autosomal dominant, 27"]
["SOX11","CAKUT_SOX11"]
["SOX17","Vesicoureteral reflux 3"]
["SOX18","Hypotrichosis-lymphedema-telangiectasia syndrome"]
["SOX2","Microphthalmia, syndromic 3"]
["SOX3","Mental retardation, X-linked, with isolated growth hormone deficiency"]
["SOX5","Lamb-Shaffer syndrome"]
["SOX8","Spermatogenic failure_SOX8"]
["SOX8","Premature ovarian failure_SOX8"]
["SOX9","Campomelic dysplasia with autosomal sex reversal"]
["SP110","Hepatic venoocclusive disease with immunodeficiency"]
["SP7","Osteogenesis imperfecta, type XII"]
["SPAG1","Ciliary dyskinesia, primary, 28"]
["SPARC","Osteogenesis imperfecta, type XVII"]
["SPAST","Spastic paraplegia 4"]
["SPATA16","Spermatogenic failure 6"]
["SPATA5","Epilepsy, hearing loss, and mental retardation syndrome"]
["SPATA7","Leber congenital amaurosis 3"]
["SPATA7","Retinitis pigmentosa, juvenile, autosomal recessive"]
["SPDL1","Microcephaly, neonatal death"]
["SPECC1L","Facial clefting, oblique, 1"]
["SPEG","Centronuclear Myopathy with Dilated Cardiomyopathy"]
["SPG11","Amyotrophic lateral sclerosis 5, juvenile"]
["SPG11","Spastic paraplegia 11"]
["SPG20","Spastic paraplegia 20"]
["SPG20","Troyer syndrome"]
["SPG21","Spastic paraplegia 21"]
["SPG7","Spastic paraplegia 7"]
["SPIDR","GONADAL DYSGENESIS"]
["SPINK1","Hereditary Pancreatitis_SPINK1"]
["SPINK5","Netherton syndrome"]
["SPINT2","Diarrhea 3, secretory sodium, congenital, syndromic"]
["SPP2","Retinitis pigmentosa_SPP2"]
["SPR","Dystonia, dopa-responsive, due to sepiapterin reductase deficiency"]
["SPR","Sepiapterin reductase deficiency"]
["SPRED1","Legius syndrome"]
["SPRTN","Ruijs-Aalfs syndrome"]
["SPRTN","Ruijs-Aalfs syndrome / hepatocellular carcinoma"]
["SPRY4","Hypogonadotropic hypogonadism 17 with or without anosmia"]
["SPTA1","Hereditary spherocytosis type 3"]
["SPTAN1","Epileptic encephalopathy, early infantile, 5"]
["SPTB","Hereditary spherocytosis type 2"]
["SPTB","Elliptocytosis-3"]
["SPTBN2","Spinocerebellar ataxia 5"]
["SPTBN2","Spinocerebellar ataxia, autosomal recessive 14"]
["SPTLC1","Neuropathy, hereditary sensory and autonomic, type IA"]
["SPTLC2","Neuropathy, hereditary sensory and autonomic, type IC"]
["SQSTM1","Frontotemporal dementia and/or amyotrophic lateral sclerosis 3"]
["SQSTM1","Paget disease of bone 3"]
["SRC","Thrombocytopenia 6"]
["SRCAP","Floating-Harbor syndrome"]
["SRD5A2","Pseudovaginal perineoscrotal hypospadias"]
["SRD5A3","Congenital disorder of glycosylation, type Iq"]
["SRP72","Bone marrow failure syndrome 1"]
["SRPX2","Rolandic epilepsy, mental retardation, and speech dyspraxia"]
["SRY","46XX sex reversal 1"]
["SSR4","Congenital disorder of glycosylation, type Iy"]
["SSUH2","DENTIN DYSPLASIA"]
["ST14","Ichthyosis with hypotrichosis, congenital autosomal recessive 11"]
["ST14","Ichthyosis, congenital, autosomal recessive 11"]
["ST3GAL3","Epileptic encephalopathy, early infantile, 15"]
["ST3GAL3","Mental retardation, autosomal recessive 12"]
["ST3GAL5","Salt and pepper developmental regression syndrome"]
["STAC3","Native American myopathy"]
["STAG1","Mental retardation, autosomal dominant 47"]
["STAG3","Premature ovarian failure 8"]
["STAMBP","Microcephaly-capillary malformation syndrome"]
["STAR","Lipoid adrenal hyperplasia"]
["STARD9","Intellectual disability_STARD9"]
["STAT1","Immunodeficiency 31"]
["STAT1","Immunodeficiency 31C, autosomal dominant"]
["STAT2","Immunodeficiency 44"]
["STAT3","Hyper-IgE recurrent infection syndrome"]
["STAT5B","Growth hormone insensitivity with immunodeficiency"]
["STEAP3","Anemia, hypochromic microcytic, with iron overload 2"]
["STIL","Microcephaly 7, primary, autosomal recessive"]
["STIM1"," Myopathy, tubular aggregate, 1"]
["STIM1","Immunodeficiency 10"]
["STK11","Peutz Jeghers syndrome"]
["STK4","T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations"]
["STOX1","Preeclampsia/eclampsia 4"]
["STRA6","Microphthalmia, isolated, with coloboma 8"]
["STRA6","Microphthalmia, syndromic 9"]
["STRADA","Polyhydramnios, megalencephaly, and symptomatic epilepsy"]
["STRC","Deafness, autosomal recessive 16"]
["STS","Ichthyosis, X-linked"]
["STT3A","Congenital disorder of glycosylation, type Iw"]
["STT3B","Congenital disorder of glycosylation, type Ix"]
["STUB1","Spinocerebellar ataxia, autosomal recessive 16"]
["STX11","Hemophagocytic lymphohistiocytosis, familial, 4"]
["STX16","Pseudohypoparathyroidism, type IB_STX16"]
["STX1B","Generalized epilepsy with febrile seizures plus, type 9"]
["STXBP1","Epileptic encephalopathy, early infantile, 4"]
["STXBP2","Hemophagocytic lymphohistiocytosis, familial, 5"]
["SUCLA2","Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)"]
["SUCLG1","Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)"]
["SUFU","Basal cell nevus syndrome 3"]
["SUFU","Joubert syndrome 32"]
["SULT2B1","Ichthyosis, congenital, autosomal recessive 14"]
["SUMF1","Multiple sulfatase deficiency"]
["SUMO1","Orofacial cleft 10"]
["SUN5","Spermatogenic failure 16"]
["SUOX","Sulfite oxidase deficiency"]
["SURF1","Charcot-Marie-Tooth disease, type 4K"]
["SURF1","Leigh syndrome, due to COX deficiency"]
["SUV420H1","Mental retardation, autosomal dominant 51"]
["SUZ12","Weaver syndrome 2"]
["SV2A","Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation"]
["SYCP3","Spermatogenic failure 4"]
["SYN1","Epilepsy, X-linked, with variable learning disabilities and behavior disorders"]
["SYNE1","Emery-Dreifuss muscular dystrophy 4, autosomal dominant"]
["SYNE1","Spinocerebellar ataxia, autosomal recessive 8"]
["SYNE2","Emery-Dreifuss muscular dystrophy 5, autosomal dominant"]
["SYNE4","Deafness, autosomal recessive 76"]
["SYNGAP1","Mental retardation, autosomal dominant 5"]
["SYNJ1","Epileptic encephalopathy, early infantile, 53"]
["SYNJ1","Parkinson disease 20, early-onset"]
["SYP","Mental retardation, X-linked 96"]
["SYT14","Spinocerebellar ataxia, autosomal recessive 11"]
["SYT2","Myasthenic syndrome, congenital, 7"]
["SZT2","Epileptic encephalopathy, early infantile, 18"]
["T","Sacral agenesis with vertebral anomalies"]
["TAB2","Congenital heart defects, multiple types, 2"]
["TAC3","Hypogonadotropic hypogonadism 10 with or without anosmia"]
["TACO1","Mitochondrial complex IV deficiency_TACO1"]
["TACR3","Hypogonadotropic hypogonadism 11 with or without anosmia"]
["TACSTD2","Corneal dystrophy, gelatinous drop-like"]
["TAF1","Dystonia-Parkinsonism, X-linked"]
["TAF1","Mental retardation, X-linked, syndromic 33"]
["TAF2","Mental retardation, autosomal recessive 40"]
["TAF4B","Spermatogenic failure 13"]
["TALDO1","Transaldolase deficiency"]
["TANGO2","Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia"]
["TAP1","Bare lymphocyte syndrome, type I"]
["TAP2","Bare lymphocyte syndrome, type I, due to TAP2 deficiency"]
["TAPBP","Bare lymphocyte syndrome 1B"]
["TAPT1","Complex Lethal Osteochondrodysplasia"]
["TARDBP","Amyotrophic lateral sclerosis 10,"]
["TARDBP","Amyotrophic lateral sclerosis 10, with or without FTD"]
["TARS2","Combined oxidative phosphorylation deficiency 21"]
["TAT","Tyrosinemia, type II"]
["TAZ","3-Methylglutaconic aciduria (other types) II"]
["TAZ","Barth syndrome"]
["TBC1D20","Warburg micro syndrome 4"]
["TBC1D23","Pontocerebellar hypoplasia, type 11"]
["TBC1D24","Deafness, autosomal dominant 65"]
["TBC1D24","Deafness, autosomal recessive 86"]
["TBC1D24","DOOR syndrome"]
["TBC1D24","Epileptic encephalopathy, early infantile, 16"]
["TBC1D24","Myoclonic epilepsy, infantile, familial"]
["TBC1D7","Macrocephaly/megalencephaly syndrome, autosomal recessive"]
["TBCD","Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"]
["TBCE","Encephalopathy, progressive, with amyotrophy and optic atrophy"]
["TBCE","Hypoparathyroidism-retardation-dysmorphism syndrome"]
["TBCE","Kenny-Caffey syndrome, type 1"]
["TBCK","Epilepsy, developmental delay,hypotonia, VSD"]
["TBCK","Hypotonia, infantile, with psychomotor retardation and characteristic facies 3"]
["TBK1","Frontotemporal dementia_TBK1"]
["TBL1XR1","Mental retardation, autosomal dominant 41 (Pierpont syndrome)"]
["TBL1XR1","Pierpont Syndrome"]
["TBR1","Autism_TBR1"]
["TBX1","Velocardiofacial syndrome"]
["TBX1","Tetralogy of Fallot 6"]
["TBX1","Conotruncal heart malformations_TBX1"]
["TBX15","Cousin syndrome"]
["TBX18","Congenital anomalies of kidney and urinary tract 2"]
["TBX19","Adrenocorticotropic hormone deficiency"]
["TBX20","Atrial septal defect 4"]
["TBX22","Abruzzo-Erickson syndrome"]
["TBX22","Cleft palate with ankyloglossia"]
["TBX3","Ulnar-mammary syndrome"]
["TBX4","Ischiocoxopodopatellar syndrome"]
["TBX5","Holt-Oram syndrome"]
["TBX6","Spondylocostal dysostosis 5"]
["TBXA2R","Bleeding disorder, platelet-type, 13, susceptibility to"]
["TBXAS1","Ghosal hematodiaphyseal syndrome"]
["TCAP","Cardiomyopathy, dilated, 1N"]
["TCAP","Cardiomyopathy, familial hypertrophic, 25"]
["TCAP","Muscular dystrophy, limb-girdle, type 2G"]
["TCF12","Craniosynostosis 3"]
["TCF3","Agammaglobulinemia 8"]
["TCF4","Corneal dystrophy, Fuchs endothelial, 3"]
["TCF4","Pitt-Hopkins syndrome"]
["TCIRG1","Osteopetrosis, autosomal recessive 1"]
["TCN2","Transcobalamin II deficiency"]
["TCOF1","Treacher Collins syndrome 1"]
["TCTN1","Joubert syndrome 13"]
["TCTN2","Joubert syndrome 24"]
["TCTN2","Meckel syndrome 8"]
["TCTN3","Joubert syndrome 18"]
["TCTN3","Orofaciodigital syndrome IV"]
["TDGF1","Forebrain defects"]
["TDP1","Spinocerebellar ataxia, autosomal recessive with axonal neuropathy"]
["TDP2","Spinocerebellar ataxia, autosomal recessive 23"]
["TDRD7","Cataract 36"]
["TEAD1","Non-X-Linked Aicardi syndrome"]
["TEAD1","Sveinsson choreoretinal atrophy"]
["TEAD1","Sveinsson chorioretinal atrophy"]
["TECPR2"," Spastic paraplegia 49"]
["TECPR2","Spastic paraplegia 49"]
["TECR","Mental retardation, autosomal recessive 14"]
["TECRL","arrhythmia"]
["TECRL","Ventricular tachycardia, catecholaminergic polymorphic, 3"]
["TECTA","Deafness, autosomal dominant 8/12"]
["TECTA","Deafness, autosomal recessive 21"]
["TEK","Glaucoma 3, primary congenital, E"]
["TEK","Venous malformations, multiple cutaneous and mucosal"]
["TELO2","You-Hoover-Fong syndrome"]
["TENM2","Developmental eye_TENM2"]
["TENM3","Microphthalmia with coloboma 9"]
["TENM3","Spinocerebellar ataxia 30-candidate"]
["TERC","Dyskeratosis congenita, autosomal dominant 1"]
["TERC","Pulmonary fibrosis, idiopathic, susceptibility to_TERC"]
["TERT","Dyskeratosis congenita, autosomal recessive 4, autosomal dominant 2"]
["TERT","Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}"]
["TERT","Leukemia, Acute Myeloid, Familial 14"]
["TET2","Myelodysplastic syndrome_TET2"]
["TEX14","Spermatogenic failure 23"]
["TFAM","Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)"]
["TFAP2A","Branchiooculofacial syndrome"]
["TFAP2B","Char syndrome"]
["TFAP2B","Patent ductus arteriosis 2"]
["TFG","Hereditary motor and sensory neuropathy, Okinawa type"]
["TFG","Spastic paraplegia 57, autosomal recessive"]
["TFR2","Hemochromatosis, type 3"]
["TFRC","Immunodeficiency 46"]
["TG","Thyroid dyshormonogenesis 3"]
["TGDS","Catel-Manzke syndrome"]
["TGFB1","Camurati-Engelmann disease"]
["TGFB2","Loeys-Dietz syndrome 4"]
["TGFB2","Loeys-Dietz syndrome, type 4"]
["TGFB3","Arrhythmogenic right ventricular dysplasia 1"]
["TGFB3","Loeys-Dietz syndrome 5"]
["TGFB3","Loeys-Dietz syndrome 5 / Reihoff syndrome"]
["TGFBI","Corneal dystrophy, Avellino type"]
["TGFBR1","Loeys-Dietz syndrome 1"]
["TGFBR1","Loeys-Dietz syndrome, type 1A, type 2A"]
["TGFBR2","Colorectal cancer, hereditary nonpolyposis, type 6"]
["TGFBR2","Loeys-Dietz syndrome 2"]
["TGFBR2","Loeys-Dietz syndrome, type 1B, type 2B"]
["TGIF1","Holoprosencephaly-4"]
["TGM1","Ichthyosis, congenital, autosomal recessive 1"]
["TGM5","Peeling skin syndrome 2"]
["TGM5","Peeling skin syndrome, acral type"]
["TGM6","Spinocerebellar ataxia 35"]
["TH","Segawa syndrome, recessive"]
["THAP1","Dystonia 6"]
["THBD","Hemolytic uremic syndrome, atypical, susceptibility to, 6"]
["THBD","Thrombophilia due to Thrombomodulin defect"]
["THOC2","Mental retardation, X-linked 12/35"]
["THOC6","Beaulieu-Boycott-Innes syndrome"]
["THPO","Thrombocythemia 1"]
["THRA","Hypothyroidism, congenital, nongoitrous, 6"]
["THRB","Thyroid hormone resistance"]
["THSD1","FAMILIAL ANEURYSM"]
["TIA1","Welander distal myopathy"]
["TIA1","Amyotrophic lateral sclerosis_TIA1"]
["TICAM1","Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6"]
["TIMM8A","Mohr-Tranebjaerg syndrome"]
["TIMP3","Sorsby fundus dystrophy"]
["TINF2","Dyskeratosis congenita, autosomal dominant 3"]
["TJP2","Cholestasis, progressive familial intrahepatic 4"]
["TJP2","Hypercholanemia, familial 3"]
["TJP2","Deafness, autosomal dominant 51_TJP2"]
["TK2","Mitochondrial DNA depletion syndrome 2 (myopathic type)"]
["TK2","Progressive external ophthalmoplegia, autosomal recessive 1"]
["TK2","Spinal muscular atrophy, recessive, proximal_TK2"]
["TKT","Short stature, developmental delay, and congenital heart defects"]
["TLL1","Atrial septal defect 6"]
["TLR3","Age related macular degeneration"]
["TLR4","Macular degeneration, age-related, 10"]
["TMC1","Deafness, autosomal dominant 36"]
["TMC1","Deafness, autosomal recessive 7"]
["TMC6","Epidermodysplasia verruciformis_TMC6"]
["TMC8","Epidermodysplasia verruciformis_TMC8"]
["TMCO1","Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"]
["TMEM126A","autosomal recessive optic atrophy and auditory neuropathy"]
["TMEM126A","Optic atrophy 7"]
["TMEM126B","Mitochondrial complex I deficiency"]
["TMEM127","Paraganglioma"]
["TMEM138","Joubert syndrome 16"]
["TMEM165","Congenital disorder of glycosylation, type IIk"]
["TMEM173","STING-associated vasculopathy, infantile-onset"]
["TMEM199","Congenital disorder of glycosylation, type IIp"]
["TMEM216","Joubert syndrome 2"]
["TMEM216","Meckel syndrome 2"]
["TMEM230","Parkinson disease  "]
["TMEM231","Joubert syndrome 20"]
["TMEM231","Meckel syndrome 11"]
["TMEM237","Joubert syndrome 14"]
["TMEM240","Spinocerebellar ataxia 21"]
["TMEM38B","Osteogenesis imperfecta, type XIV"]
["TMEM43","Arrhythmogenic right ventricular dysplasia 5"]
["TMEM43","Emery-Dreifuss muscular dystrophy 7, AD"]
["TMEM5","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10"]
["TMEM67","Joubert syndrome 6"]
["TMEM67","Meckel syndrome 3"]
["TMEM67","Nephronophthisis 11"]
["TMEM67","COACH syndrome 2"]
["TMEM70","Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"]
["TMEM98","Nanophthalmos 4"]
["TMIE","Deafness, autosomal recessive 6"]
["TMLHE","Autism, susceptibility to, X-linked 6"]
["TMPO","Cardiomyopathy, dilated, 1T"]
["TMPRSS15","Enterokinase deficiency"]
["TMPRSS3","Deafness, autosomal recessive 8/10"]
["TMPRSS6","Iron-refractory iron deficiency anemia"]
["TMTC3","Lissencephaly 8"]
["TNC","Deafness, autosomal dominant 56"]
["TNFAIP3","Autoinflammatory syndrome, familial, Behcet-like"]
["TNFRSF11A","Osteopetrosis, autosomal recessive 7"]
["TNFRSF11A","Paget disease of bone 2, early-onset"]
["TNFRSF11B","Paget disease of bone 5, juvenile-onset"]
["TNFRSF13B","Immunodeficiency, common variable, 2"]
["TNFRSF13C","Immunodeficiency, common variable, 4"]
["TNFRSF1A","Periodic fever, familial"]
["TNFRSF4","Immunodeficiency 16"]
["TNFSF11","Osteopetrosis, autosomal recessive 2"]
["TNFSF12","Common variable immune deficiency_TNFSF12"]
["TNIK","Mental retardation, autosomal recessive 54"]
["TNNC1","Cardiomyopathy, dilated, 1Z"]
["TNNC1","Cardiomyopathy, familial hypertrophic, 13"]
["TNNI2","Arthrogryposis multiplex congenita, distal, type 2B"]
["TNNI3","Cardiomyopathy, dilated, 1FF, 2A"]
["TNNI3","Cardiomyopathy, familial hypertrophic, 7"]
["TNNI3","Cardiomyopathy, familial restrictive 1"]
["TNNI3K","Cardiac conduction disease with or without dilated cardiomyopathy"]
["TNNT1","Nemaline myopathy 5, Amish type"]
["TNNT2","Cardiomyopathy, dilated, 1D"]
["TNNT2","Cardiomyopathy, familial hypertrophic, 2"]
["TNNT2","Cardiomyopathy, familial restrictive, 3"]
["TNNT2","Left ventricular noncompaction 6"]
["TNNT3","Arthyrgryposis, distal, type 2B"]
["TNPO3","Muscular dystrophy, limb-girdle, type 1F"]
["TOE1","Pontocerebellar hypoplasia"]
["TOLLIP","Interstitial Lung Disease"]
["TOP3A","Microcephaly, growth restriction, and increased sister chromatid exchange 2"]
["TOPORS","Retinitis pigmentosa 31"]
["TOR1A","Dystonia 1, torsion"]
["TOR1AIP1","Muscular dystrophy, limb-girdle, type 2Y"]
["TP53","Li Fraumeni syndrome"]
["TP53","Bone marrow failure_TP53"]
["TP53RK","Galloway-Mowat syndrome 4"]
["TP63","ADULT syndrome"]
["TP63","Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3"]
["TP63","Hay-Wells syndrome"]
["TP63","Limb-mammary syndrome"]
["TP63","Orofacial cleft 8, Rapp-Hodgkin syndrome "]
["TP63","Rapp-Hodgkin syndrome"]
["TP63","Split-hand/foot malformation 4"]
["TPK1","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)"]
["TPM1","Cardiomyopathy, dilated, 1Y"]
["TPM1","Cardiomyopathy, familial hypertrophic, 3"]
["TPM1","Left ventricular noncompaction 9"]
["TPM2","Arthrogryposis multiplex congenita, distal, type 1"]
["TPM2","Nemaline myopathy 4, autosomal dominant"]
["TPM3","Nemaline myopathy 1, autosomal dominant or recessive"]
["TPM4","macrothrombocytopenia"]
["TPO","Thyroid dyshormonogenesis 2A"]
["TPP1","Ceroid lipofuscinosis, neuronal, 2"]
["TPP2","Immunodeficiency_TPP2"]
["TPRN","Deafness, autosomal recessive 79"]
["TRAF3","Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5"]
["TRAF3IP1","Senior-Loken syndrome 9"]
["TRAF3IP2","Candidiasis, familial, 8"]
["TRAF7","Developmental Delay, Congenital Anomalies, and Dysmorphic Features"]
["TRAIP","Seckel syndrome 9"]
["TRAK1","Fatal encephalopathy"]
["TRAP1","CAKUT 7"]
["TRAPPC11","Muscular dystrophy, limb-girdle, type 2S"]
["TRAPPC11","Muscular dystrophy, limb-girdle, type 2S (with dyskinesia)"]
["TRAPPC11","Myopathy and movement disorder"]
["TRAPPC2","Spondyloepimetaphyseal dysplasia tarda"]
["TRAPPC9","Mental retardation, autosomal recessive 13"]
["TRDN","Ventricular tachycardia, catecholaminergic polymorphic, 5"]
["TREM2","Nasu-Hakola disease 1"]
["TREX1","Aicardi-Goutieres syndrome 1"]
["TREX1","Vasculopathy, retinal, with cerebral leukodystrophy"]
["TRIM2","Charcot-Marie-Tooth disease, axonal, type 2R"]
["TRIM32","Bardet-Biedl syndrome 11"]
["TRIM32","Muscular dystrophy, limb-girdle, type 2H"]
["TRIM32","Myopathy congenital_TRIM32"]
["TRIM36","ANENCEPHALY"]
["TRIM37","Mulibrey nanism"]
["TRIM44","Aniridia 3"]
["TRIO","Mental retardation, autosomal dominant 44"]
["TRIOBP","Deafness, autosomal recessive 28"]
["TRIP11","Achondrogenesis, type IA"]
["TRIP12","Mental retardation, autosomal dominant 49"]
["TRIP13","Wilms Tumor, Familial_TRIP13"]
["TRIP13","Mosaic variegated aneuploidy syndrome 3"]
["TRIP4","Muscular dystrophy, congenital, Davignon-Chauveau type"]
["TRIP4","Spinal muscular atrophy with congenital bone fractures 1"]
["TRIT1","Combined oxidative phosphorylation deficiency 35"]
["TRMT10A","Microcephaly, short stature, and impaired glucose metabolism 1"]
["TRMT10C","Combined oxidative phosphorylation deficiency 30"]
["TRMT5","Combined oxidative phosphorylation deficiency 26"]
["TRMU","Liver failure, transient infantile"]
["TRNT1","Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"]
["TRNT1","Retinitis Pigmentosa and erythrocytic microcytosis"]
["TRNT1","Fetal hydrops and neonatal anaemia"]
["TRPA1","Episodic pain syndrome, familial, 1"]
["TRPC3","Spinocerebellar ataxia 41"]
["TRPC6","Glomerulosclerosis, focal segmental, 2"]
["TRPM1","Night blindness, congenital stationary (complete), 1C, autosomal recessive"]
["TRPM4","Progressive familial heart block, type IB"]
["TRPM6","Hypomagnesemia 1, intestinal"]
["TRPS1","Trichorhinophalangeal syndrome, type I, type III"]
["TRPV3","Olmsted syndrome"]
["TRPV4","Avascular necrosis of femoral head, primary, 2"]
["TRPV4","Brachyolmia type 3"]
["TRPV4","Charcot-Marie-Tooth disease, axonal, type 2C"]
["TRPV4","Neuronopathy, distal hereditary motor_TRPV4"]
["TRPV4","Spinal muscular atrophy, distal, congenital nonprogressive"]
["TSC1","Focal Cortical Dysplasia_TSC1"]
["TSC1","Tuberous sclerosis 1"]
["TSC2","Tuberous sclerosis 2"]
["TSC2","Focal Cortical Dysplasia_TSC2"]
["TSEN15","Pontocerebellar hypoplasia, type 2F"]
["TSEN2","Pontocerebellar hypoplasia type 2B"]
["TSEN34","Pontocerebellar hypoplasia type 2C"]
["TSEN54","Pontocerebellar hypoplasia type 2A, type 4"]
["TSFM","Combined oxidative phosphorylation deficiency 3"]
["TSHB","Hypothryoidism, congenital, nongoitrous 4"]
["TSHB","Hypothyroidism, congenital, nongoitrous, 4"]
["TSHR","Hyperthyroidism, nonautoimmune"]
["TSHR","Hypothyroidism, congenital, nongoitrous, 1"]
["TSHZ1","Aural atresia, congenital"]
["TSPAN12","Exudative vitreoretinopathy 5"]
["TSPAN7","Mental retardation, X-linked 58"]
["TSPEAR","Deafness, autosomal recessive 98"]
["TSPYL1","Sudden infant death with dysgenesis of the testes syndrome"]
["TSR2","Diamond-Blackfan anemia 14 with mandibulofacial dysostosis"]
["TTBK2","Spinocerebellar ataxia 11"]
["TTC19","Mitochondrial complex III deficiency, nuclear type 2"]
["TTC21B","Joubert syndrome 11"]
["TTC21B","Nephronophthisis 12"]
["TTC21B","Short-rib thoracic dysplasia 4 with or without polydactyly"]
["TTC25","Ciliary dyskinesia, primary, 35"]
["TTC37","Trichohepatoenteric syndrome 1"]
["TTC7A","Gastrointestinal defects and immunodeficiency syndrome"]
["TTC8","Bardet-Biedl syndrome 8"]
["TTC8","Retinitis pigmentosa 51"]
["TTI2","Mental retardation, autosomal recessive 39"]
["TTLL5","Cone-rod dystrophy 19"]
["TTN","Cardiomyopathy, dilated, 1G"]
["TTN","Cardiomyopathy, familial hypertrophic, 9"]
["TTN","Muscular dystrophy, limb-girdle, type 2J"]
["TTN","Myopathy, proximal, with early respiratory muscle involvement"]
["TTN","Tibial muscular dystrophy, tardive"]
["TTPA","Ataxia with isolated vitamin E deficiency"]
["TTR","Familial amyloid polyneuropathy"]
["TUB","Retinal dystrophy and obesity"]
["TUBA1A","Lissencephaly 3"]
["TUBA4A","Amyotrophic lateral sclerosis 22"]
["TUBA8","Cortical dysplasia, complex, with other brain malformations 8"]
["TUBB","Cortical dysplasia, complex, with other brain malformations 6"]
["TUBB","Symmetric circumferential skin creases, congenital, 1"]
["TUBB1","TUBB1-related thrombocytopenia"]
["TUBB2A","Cortical dysplasia, complex, with other brain malformations 5"]
["TUBB2A","Spastic ataxia_TUBB2A"]
["TUBB2B","Cortical dysplasia, complex, with other brain malformations 7"]
["TUBB2B","Dystonia_TUBB2B"]
["TUBB3","Cortical dysplasia, complex, with other brain malformations 1"]
["TUBB3","Fibrosis of extraocular muscles, congenital, 3A"]
["TUBB4A","Dystonia 4, torsion, autosomal dominant"]
["TUBB4A","Leukodystrophy, hypomyelinating, 6"]
["TUBB4A","Leukoencephalopathy with spastic ataxia"]
["TUBG1","Cortical dysplasia, complex, with other brain malformations 4"]
["TUBGCP4","Microcephaly and chorioretinopathy, autosomal recessive, 3"]
["TUBGCP6","Microcephaly and chorioretinopathy, autosomal recessive, 1"]
["TUFM","Combined oxidative phosphorylation deficiency 4"]
["TULP1","Leber congenital amaurosis 15"]
["TULP1","Retinitis pigmentosa 14"]
["TUSC3","Mental retardation, autosomal recessive 7"]
["TWIST1","Craniosynostosis 1"]
["TWIST1","Robinow-Sorauf syndrome"]
["TWIST1","Saethre-Chotzen syndrome"]
["TWIST2","Focal facial dermal dysplasia 3, Setleis type"]
["TXN2","Combined oxidative phosphorylation deficiency 29"]
["TXNL4A","Burn-McKeown syndrome"]
["TXNRD2","Glucocorticoid deficiency 5"]
["TYK2","Immunodeficiency 35"]
["TYMP","Mitochondrial DNA depletion syndrome 1 (MNGIE type)"]
["TYR","Albinism, oculocutaneous, type I"]
["TYROBP","Nasu-Hakola disease 2"]
["TYRP1","Albinism, oculocutaneous, type III"]
["UBA1","Spinal muscular atrophy, X-linked 2, infantile"]
["UBA1","Spinal muscular atrophy, X-linked, proximal_UBA1"]
["UBA5","Epileptic encephalopathy, early infantile, 44"]
["UBA5","Spinocerebellar ataxia, autosomal recessive 24"]
["UBE2A","Mental retardation, X-linked syndromic, Nascimento-type"]
["UBE2T","Fanconi anemia, complementation group T"]
["UBE3A","Angelman syndrome"]
["UBE3B","Kaufman oculocerebrofacial syndrome"]
["UBE3C","Autism_UBE3C"]
["UBIAD1","Corneal dystrophy, schnyder type"]
["UBQLN2","Amyotrophic lateral sclerosis 15"]
["UBR1","Johanson-Blizzard syndrome"]
["UBTF","Neurodegeneration, childhood-onset, with brain atrophy"]
["UCHL1","Spastic paraplegia 79, autosomal recessive"]
["UCP2","Obesity, susceptibility to, BMIQ4"]
["UGT1A1","Crigler-Najjar syndrome, type I"]
["UGT1A1","Crigler-Najjar syndrome,type II"]
["UGT1A1","Gilbert syndrome"]
["ULK4","Acute Aortic Dissections"]
["UMOD","Hyperuricemic nephropathy, familial juvenile 1"]
["UMOD","Medullary cystic kidney disease 2"]
["UMOD","UMOD related kidney disorders"]
["UMPS","Hereditary orotic aciduria"]
["UNC119","Immunodeficiency 13"]
["UNC119","Cone-rod dystrophy_UNC119"]
["UNC13D","Hemophagocytic lymphohistiocytosis, familial, 3"]
["UNC45B","Cataract 43"]
["UNC80","Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"]
["UNC93B1","Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1"]
["UNG","Immunodeficiency with hyper IgM, type 5"]
["UPB1","Beta-ureidopropionase deficiency"]
["UPF3B","Mental retardation, X-linked, syndromic 14"]
["UPK3A","CAKUT 8"]
["UPK3A","CAKUT 9"]
["UQCRB","Mitochondrial complex III deficiency, nuclear type 3"]
["UQCRC2","Mitochondrial complex III deficiency, nuclear type 5"]
["UQCRQ","Mitochondrial complex III deficiency, nuclear type 4"]
["UROC1","Urocanase deficiency"]
["UROD","Porphyria cutanea tarda"]
["UROD","Porphyria, hepatoerythropoietic"]
["UROS","Porphyria, congenital erythropoietic"]
["USB1","Poikiloderma with neutropenia"]
["USB1","Dyskeratosis congenita like_USB1"]
["USH1C","Deafness, autosomal recessive 18A"]
["USH1C","Usher syndrome, type 1C"]
["USH1G","Usher syndrome, type 1G"]
["USH2A","Retinitis pigmentosa 39"]
["USH2A","Usher syndrome, type 2A"]
["USP27X","Mental retardation, X-linked 105"]
["USP8","Cushing's disease"]
["USP8","Spastic paraplegia 59, autosomal recessive"]
["USP9X","Mental retardation, X-linked 99"]
["USP9Y","Spermatogenic failure, Y-linked, 2"]
["UVSSA","UV-sensitive syndrome 3"]
["VAC14","Striatonigral degeneration, childhood-onset"]
["VAMP1","Spastic ataxia 1, autosomal dominant"]
["VANGL1","Caudal regression syndrome"]
["VAPB","Amyotrophic lateral sclerosis 8"]
["VAPB","Spinal muscular atrophy, late-onset, Finkel type"]
["VARS2","Combined oxidative phosphorylation deficiency 20"]
["VAX1","Microphthalmia, syndromic 11"]
["VCAN","Wagner syndrome 1"]
["VCL","Cardiomyopathy, dilated, 1W"]
["VCL","Cardiomyopathy, familial hypertrophic, 15"]
["VCP","Amyotrophic lateral sclerosis 14"]
["VCP","Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia"]
["VCP","Charcot-Marie-Tooth disease, axonal, type 2Y"]
["VCP","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1"]
["VDR","Rickets, vitamin D-resistant, type IIA"]
["VEGFC","Lymphedema, hereditary, ID"]
["VHL","Erythrocytosis, familial, 2"]
["VHL","Von Hippel Lindau"]
["VIM","Cataract 30, pulverulent"]
["VIPAS39","Arthrogryposis, renal dysfunction, and cholestasis 2"]
["VKORC1","Vitamin K-dependent clotting factors, combined deficiency of, 2"]
["VLDLR","Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1"]
["VLDLR","Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1"]
["VMA21","X-linked myopathy with excessive autophagy"]
["VPS11","Leukodystrophy, hypomyelinating, 12"]
["VPS13A","Neuroacanthocytosis"]
["VPS13B","Cohen syndrome"]
["VPS13C","Parkinson disease 23, autosomal recessive, early onset"]
["VPS33A","mucopolysaccharidosis-plus syndrome"]
["VPS33B","Arthrogryposis, renal dysfunction, and cholestasis 1"]
["VPS35","Parkinson disease 17"]
["VPS37A","Spastic paraplegia 53"]
["VPS45","Neutropenia, severe congenital, 5, autosomal recessive"]
["VPS53","Pontocerebellar hypoplasia, type 2E"]
["VRK1","Pontocerebellar hypoplasia type 1A"]
["VRK1","SMA + cerebellar hypoplasia_VRK1"]
["VSX1","Corneal dystrophy, hereditary polymorphous posterior"]
["VSX1","Craniofacial anomalies and anterior segment dysgenesis syndrome"]
["VSX2","Microphthalmia with coloboma 3"]
["VSX2","Microphthalmia, isolated 2"]
["VWA3B","Spinocerebellar ataxia, autosomal recessive 22"]
["VWF","VonWillebrand disease, type 1"]
["VWF","VonWillebrand disease, type 3"]
["VWF","VonWillebrand disease,types 2A, 2B, 2M, and 2N"]
["WAC","Desanto-Shinawi syndrome"]
["WAS","Neutropenia, severe congenital, X-linked"]
["WAS","Thrombocytopenia, X-linked"]
["WAS","Wiskott Aldrich syndrome"]
["WDFY3","Microcephaly 18, primary, autosomal dominant"]
["WDPCP","Bardet-Biedl syndrome 15"]
["WDR11","Hypogonadotropic hypogonadism 14 with or without anosmia"]
["WDR19","Cranioectodermal dysplasia 4"]
["WDR19","Nephronophthisis 13"]
["WDR19","Senior-Loken syndrome 8"]
["WDR19","Short rib-polydactyly syndrome, type 5"]
["WDR34","Short-rib thoracic dysplasia 11 with or without polydactyly"]
["WDR35","Cranioectodermal dysplasia 2"]
["WDR35","Short-rib thoracic dysplasia 7 with or without polydactyly"]
["WDR36","Glaucoma 1, open angle, G"]
["WDR4","Microcephalic dwarfism_WDR4"]
["WDR4","Galloway-Mowat syndrome_WDR4"]
["WDR45","Neurodegeneration with brain iron accumulation 5 (BPAN)"]
["WDR45B","Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures"]
["WDR48","Spastic paraplegia 60, autosomal recessive"]
["WDR60","Short-rib thoracic dysplasia 8 with or without polydactyly"]
["WDR62","Microcephaly 2, primary, autosomal recessive, with or without cortical malformations"]
["WDR66","Immotile Spermatozoa Lacking Mitochondria and Infertility in Men"]
["WDR72","Amelogenesis imperfecta, hypomaturation type, IIA3"]
["WDR73","Galloway-Mowat Syndrome"]
["WDR81","Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2"]
["WDR81","Hydrocephalus, nonsyndromic, autosomal recessive 3"]
["WFS1","Deafness, autosomal dominant 6/14/38"]
["WFS1","Wolfram syndrome"]
["WFS1","Wolfram syndrome 1"]
["WFS1","Cataract 41"]
["WHSC1L1","Leukemia, Acute Myeloid, Familial 15"]
["WIPF1","Wiskott-Aldrich syndrome 2"]
["WISP3","Spondyloepimetaphyseal dysplasia tarda with progressive arthropathy"]
["WNK1","Neuropathy, hereditary sensory and autonomic, type II"]
["WNK1","Pseudohypoaldosteronism, type IIC"]
["WNK4","Pseudohypoaldosteronism, type IIB"]
["WNT1","Osteogenesis imperfecta, type XV"]
["WNT10A","Odontoonychodermal dysplasia"]
["WNT10A","Schopf-Schulz-Passarge syndrome"]
["WNT10A","Tooth agenesis, selective, 4"]
["WNT10B","Split-hand/foot malformation 6"]
["WNT10B","Tooth agenesis, selective, 8"]
["WNT3","Tetra-amelia, autosomal recessive"]
["WNT4","Mullerian aplasia and hyperandrogenism"]
["WNT4","Mayer-Rokitansky-Küster-Hauser syndrome_WNT4"]
["WNT5A","Robinow syndrome, autosomal dominant 1"]
["WNT7A","Fuhrmann syndrome"]
["WNT7A","Ulna and fibula, absence of, with severe limb deficiency"]
["WNT9B","Mayer-Rokitansky-Küster-Hauser syndrome_WNT9B"]
["WRAP53","Dyskeratosis congenita, autosomal recessive 3"]
["WRN","Werner syndrome"]
["WT1","Denys-Drash syndrome"]
["WT1","Glomerulosclerosis, focal segmental"]
["WT1","Nephrotic syndrome, type 4"]
["WT1","Wilms Tumor, Familial"]
["WWOX","Epileptic encephalopathy, early infantile, 28"]
["WWOX","Spinocerebellar ataxia, autosomal recessive 12"]
["XDH","Xanthinuria, type I"]
["XIAP","Lymphoproliferative syndrome, X-linked, 2"]
["XK","Kx antigen, McLeod syndrome with or without chronic granulomatous disease "]
["XK","McLeod syndrome"]
["XPA","Xeroderma pigmentosum, group A"]
["XPC","Xeroderma pigmentosum, group C"]
["XPNPEP3","Nephronophthisis-like nephropathy 1"]
["XPR1","Basal ganglia calcification, idiopathic, 6"]
["XRCC1","Spinocerebellar ataxia, autosomal recessive 26"]
["XRCC2","Fanconi anemia, complementation group U"]
["XRCC4","Short stature, microcephaly, and endocrine dysfunction"]
["XYLT1","Desbuquois dysplasia 2"]
["XYLT2","Spondyloocular syndrome"]
["YAP1","Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation"]
["YARS","Charcot-Marie-Tooth disease, dominant intermediate C"]
["YARS2","Mitochondrial myopathy and sideroblastic anemia 2"]
["YARS2","Myopathy, lactic acidosis, and sideroblastic anemia 2"]
["YME1L1","Optic atrophy 11"]
["YY1","Gabriele-de Vries syndrome "]
["YY1AP1","Grange Syndrome"]
["ZAK","Centronuclear myopathy-6 with fiber-type disproportion"]
["ZAP70","Immunodeficiency 48"]
["ZBTB11","Intellectual disability_ZBTB11"]
["ZBTB16","Skeletal defects, genital hypoplasia, and mental retardation"]
["ZBTB18","Mental retardation, autosomal dominant 22"]
["ZBTB20","Primrose syndrome"]
["ZBTB24","Immunodeficiency-centromeric instability-facial anomalies syndrome 2"]
["ZBTB24","Immunodeficiency-centromeric instability-facial anomalies syndrome-2"]
["ZBTB42","Lethal congenital contracture syndrome 6"]
["ZC3H14","Mental retardation, autosomal recessive 56"]
["ZDHHC15","Mental retardation, X-linked 91"]
["ZDHHC9","Mental retardation, X-linked syndromic, Raymond type"]
["ZEB1","Corneal dystrophy, fuchs endothelial, 6"]
["ZEB1","Corneal dystrophy, posterior polymorphous, 3"]
["ZEB2","Mowat-Wilson syndrome"]
["ZFP57","Diabetes mellitus, transient neonatal, 1"]
["ZFPM2","46XY sex reversal 9"]
["ZFPM2","Tetralogy of Fallot 7"]
["ZFR","Spastic paraplegia 71"]
["ZFYVE26","Spastic paraplegia 15"]
["ZFYVE27","Spastic paraplegia 33"]
["ZIC1","Craniosynostosis 6"]
["ZIC1","Dandy Walker malformation_ZIC1"]
["ZIC2","Holoprosencephaly-5"]
["ZIC3","Congenital heart defects, multiple types, 1"]
["ZIC3","Heterotaxy, visceral, 1, X-linked"]
["ZIC3","VACTERL 2"]
["ZIC4","Dandy Walker malformation_ZIC4"]
["ZMPSTE24","Mandibuloacral dysplasia with type B lipodystrophy"]
["ZMPSTE24","Restrictive dermopathy, lethal"]
["ZMYND10","Ciliary dyskinesia, primary, 22"]
["ZMYND11","Mental retardation, autosomal dominant 30"]
["ZMYND15","Spermatogenic failure 14"]
["ZNF141","Polydactyly, postaxial, type A6"]
["ZNF148","Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"]
["ZNF335","Microcephaly 10, primary, autosomal recessive"]
["ZNF408","Exudative vitreoretinopathy 6"]
["ZNF408","Retinitis pigmentosa 72"]
["ZNF41","Mental retardation, X-linked 89"]
["ZNF423","Joubert syndrome 19"]
["ZNF423","Nephronophthisis 14"]
["ZNF469","Brittle cornea syndrome 1"]
["ZNF513","Retinitis pigmentosa 58"]
["ZNF592","Spinocerebellar ataxia, autosomal recessive 5"]
["ZNF644","Myopia 21, autosomal dominant"]
["ZNF674","Mental retardation, X-linked 92"]
["ZNF687","Paget disease of bone 6"]
["ZNF711","Mental retardation, X-linked 97"]
["ZNF750","Seborrhea-like dermatitis with psoriasiform elements"]
["ZNF81","Mental retardation, X-linked 45"]
["ZP1","Oocyte maturation defect 1"]
["ZSWIM6","Acromelic frontonasal dysostosis"]
["ZSWIM6","Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"]