Научное исследование в области расширения и повышения информативности неонатального скрининга на наследственные заболевания

Ниже предлагаем вам ознакомиться с таблицей генов, варианты в которых ассоциированы с наследственными заболеваниями. Обращаем ваше внимание на то, что обладать патогенностью может не сам ген, а вариант в гене. Поэтому один и тот же ген может подвергаться анализу и в базовом, и в расширенном исследовании.

Ген	Описание заболевания в базе данных OMIM	Описание заболевания в библиотеке Gene Review
AAAS	Achalasia-addisonianism-alacrimia syndrome
AARS	Charcot-Marie-Tooth disease, axonal Developmental and epileptic encephalopathy 29 Trichothiodystrophy 8, nonphotosensitive
AARS1	Charcot-Marie-Tooth disease, axonal Developmental and epileptic encephalopathy 29 Trichothiodystrophy 8, nonphotosensitive	Charcot-Marie-Tooth Hereditary Neuropathy Overview
AARS2	Combined oxidative phosphorylation deficiency 8 Leukoencephalopathy, progressive
ABAT	GABA-transaminase deficiency
ABCA12	Ichthyosis, congenital Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
ABCA3	Surfactant metabolism dysfunction, pulmonary
ABCA4	Cone-rod dystrophy 3 Fundus flavimaculatus Retinal dystrophy, early-onset severe Retinitis pigmentosa 19 Stargardt disease 1	Nonsyndromic Retinitis Pigmentosa Overview
ABCB11	Cholestasis, benign recurrent intrahepatic Cholestasis, progressive familial intrahepatic 2
ABCB4	Cholestasis, intrahepatic Cholestasis, progressive familial intrahepatic 3 Gallbladder disease 1
ABCB7	Anemia, sideroblastic
ABCC6	Arterial calcification, generalized Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste	Pseudoxanthoma Elasticum Generalized Arterial Calcification of Infancy
ABCC8	Diabetes mellitus, noninsulin-dependent Diabetes mellitus, permanent neonatal 3 Diabetes mellitus, transient neonatal 2 Hyperinsulinemic hypoglycemia, familial Hypoglycemia of infancy, leucine-sensitive	Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview
ABCC9	Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia (Cantu syndrome) Intellectual disability and myopathy syndrome	Brugada Syndrome Cantú syndrome
ABCD1	Adrenoleukodystrophy Adrenomyeloneuropathy, adult	X-Linked Adrenoleukodystrophy
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type	Disorders of Intracellular Cobalamin Metabolism
ABCG5	Sitosterolemia 2	Sitosterolemia
ABHD12	Polyneuropathy, hearing loss	Charcot-Marie-Tooth Hereditary Neuropathy Overview
ABHD5	Chanarin-Dorfman syndrome
ACACA	Acetyl-CoA carboxylase deficiency
ACAD8	Isobutyryl-CoA dehydrogenase deficiency
ACAD9	Mitochondrial complex I deficiency, nuclear type 20
ACADM	Acyl-CoA dehydrogenase, medium chain	Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
ACADS	Acyl-CoA dehydrogenase, short-chain	Short-Chain Acyl-CoA Dehydrogenase Deficiency
ACADVL	VLCAD deficiency	Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
ACAN	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans Spondyloepimetaphyseal dysplasia, aggrecan type
ACAT1	Alpha-methylacetoacetic aciduria
ACE	Renal tubular dysgenesis
ACO2	Infantile cerebellar-retinal degeneration
ACOX1	Mitchell syndrome Peroxisomal acyl-CoA oxidase deficiency
ACP5	Spondyloenchondrodysplasia with immune dysregulation
ACSF3	Combined malonic and methylmalonic aciduria
ACSL4	Intellectual developmental disorder, X-linked 63
ACTA1	Myopathy, actin Myopathy, actin Myopathy, congenital Nemaline myopathy 3, autosomal dominant or recessive
ACTA2	Aortic aneurysm, familial thoracic 6 Moyamoya disease 5 Multisystemic smooth muscle dysfunction syndrome	Heritable Thoracic Aortic Disease Overview
ACTB	Baraitser-Winter syndrome 1	Baraitser-Winter Cerebrofrontofacial Syndrome
ACTC1	Atrial septal defect 5 Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 4	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
ACTG1	Baraitser-Winter syndrome 2 Deafness, autosomal dominant 20/26	Hereditary Hearing Loss and Deafness Overview Baraitser-Winter Cerebrofrontofacial Syndrome
ACTG2	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 Visceral myopathy 1	ACTG2 Visceral Myopathy
ACTL6B	Developmental and epileptic encephalopathy 76 Intellectual developmental disorder with severe speech and ambulation defects
ACTN1	Bleeding disorder, platelet-type
ACTN2	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Myopathy, congenital with structured cores and Z-line abnormalities Myopathy, distal	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
ACTN4	Glomerulosclerosis, focal segmental
ACVR1	Fibrodysplasia ossificans progressiva	Fibrodysplasia Ossificans Progressiva
ACVR2B	Heterotaxy, visceral
ACVRL1	Telangiectasia, hereditary hemorrhagic	Hereditary Hemorrhagic Telangiectasia Heritable Pulmonary Arterial Hypertension Overview
ACY1	Aminoacylase 1 deficiency
ADA	Adenosine deaminase deficiency, partial Severe combined immunodeficiency due to ADA deficiency	Adenosine Deaminase Deficiency
ADAM17
ADAM22	Developmental and epileptic encephalopathy 61
ADAMTS13	Thrombotic thrombocytopenic purpura, hereditary
ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type
ADAMTSL2	Geleophysic dysplasia 1	Geleophysic Dysplasia
ADAR	Aicardi-Goutieres syndrome 6 Dyschromatosis symmetrica hereditaria	Aicardi-Goutieres Syndrome
ADARB1	Neurodevelopmental disorder with hypotonia, microcephaly
ADAT3	Neurodevelopmental disorder with brain abnormalities, poor growth
ADCY5	Dyskinesia with orofacial involvement, autosomal dominant Dyskinesia with orofacial involvement, autosomal recessive Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	ADCY5 Dyskinesia
ADGRG1	Polymicrogyria, bilateral frontoparietal Polymicrogyria, bilateral perisylvian
ADGRG6	Lethal congenital contracture syndrome 9
ADGRV1	Usher syndrome, type 2C Usher syndrome, type 2C	Usher Syndrome Type II
ADK	Hypermethioninemia due to adenosine kinase deficiency
ADNP	Helsmoortel-van der Aa syndrome	ADNP-Related Disorder
ADSL	Adenylosuccinase deficiency
AFF2	Intellectual developmental disorder, X-linked 109
AFG3L2	Optic atrophy 12 Spastic ataxia 5, autosomal recessive Spinocerebellar ataxia 28	Spinocerebellar Ataxia Type 28
AGA	Aspartylglucosaminuria
AGK	Cataract 38, autosomal recessive Sengers syndrome
AGL	Glycogen storage disease IIIa Glycogen storage disease IIIb	Glycogen Storage Disease Type III
AGPAT2	Lipodystrophy, congenital generalized	Berardinelli-Seip Congenital Lipodystrophy
AGPS	Rhizomelic chondrodysplasia punctata, type 3
AGRN	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
AGT	Renal tubular dysgenesis
AGTPBP1	Neurodegeneration, childhood-onset
AGTR1	Renal tubular dysgenesis
AGXT	Hyperoxaluria, primary	Primary Hyperoxaluria Type 1
AHCY	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHDC1	Xia-Gibbs syndrome	Xia-Gibbs Syndrome
AHI1	Joubert syndrome 3	Joubert Syndrome
AIFM1	Combined oxidative phosphorylation deficiency 6 Cowchock syndrome Deafness, X-linked 5 Spondyloepimetaphyseal dysplasia, X-linked	Charcot-Marie-Tooth Hereditary Neuropathy Overview
AIMP1	Leukodystrophy, hypomyelinating
AIP	Pituitary adenoma 1, multiple types Pituitary adenoma predisposition	AIP Familial Isolated Pituitary Adenomas
AIPL1	Cone-rod dystrophy Leber congenital amaurosis 4 Retinitis pigmentosa, juvenile	Nonsyndromic Retinitis Pigmentosa Overview
AIRE	Autoimmune polyendocrinopathy syndrome , type I
AK2	Reticular dysgenesis
AKR1D1	Bile acid synthesis defect, congenital
AKT2	Diabetes mellitus, type II Hypoinsulinemic hypoglycemia with hemihypertrophy
AKT3	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	MPPH Syndrome
ALAD	Porphyria, acute hepatic
ALAS2	Anemia, sideroblastic Protoporphyria, erythropoietic	X-Linked Protoporphyria
ALB	Analbuminemia
ALDH18A1	Cutis laxa, autosomal dominant 3 Cutis laxa, autosomal recessive Spastic paraplegia 9A, autosomal dominant Spastic paraplegia 9B, autosomal recessive
ALDH1A3	Microphthalmia, isolated 8
ALDH3A2	Sjogren-Larsson syndrome
ALDH4A1	Hyperprolinemia, type II
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency
ALDH6A1	Methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1	Epilepsy, pyridoxine-dependent	Pyridoxine-Dependent Epilepsy - ALDH7A1
ALDOA	Glycogen storage disease XII
ALDOB	Fructose intolerance, hereditary	Hereditary Fructose Intolerance
ALG1	Congenital disorder of glycosylation, type Ik
ALG11	Congenital disorder of glycosylation, type Ip	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG12	Congenital disorder of glycosylation, type Ig	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG13	Developmental and epileptic encephalopathy 36	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG14	Intellectual developmental disorder with epilepsy, behavioral abnormalities Myopathy, epilepsy	Congenital Myasthenic Syndromes Overview
ALG2	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG3	Congenital disorder of glycosylation, type Id	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG6	Congenital disorder of glycosylation, type Ic
ALG8	Congenital disorder of glycosylation, type Ih Polycystic liver disease 3 with or without kidney cysts	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALG9	Congenital disorder of glycosylation, type Il Gillessen-Kaesbach-Nishimura syndrome	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ALMS1	Alstrom syndrome	Alstrom Syndrome
ALOX12B	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
ALOXE3	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
ALPL	Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile Odontohypophosphatasia	Hypophosphatasia
ALS2	Amyotrophic lateral sclerosis 2, juvenile Primary lateral sclerosis, juvenile Spastic paralysis, infantile onset ascending	ALS2-Related Disorder
ALX3	Frontonasal dysplasia 1
ALX4	Frontonasal dysplasia 2 Parietal foramina 2	Enlarged Parietal Foramina
AMACR	Alpha-methylacyl-CoA racemase deficiency Bile acid synthesis defect, congenital
AMELX	Amelogenesis imperfecta, type 1E
AMER1	Osteopathia striata with cranial sclerosis	Osteopathia Striata with Cranial Sclerosis
AMN	Adrenoleukodystrophy Adrenomyeloneuropathy, adult Imerslund-Grasbeck syndrome 2
AMPD1	Myopathy due to myoadenylate deaminase deficiency
AMPD2	Pontocerebellar hypoplasia, type 9
AMT	Glycine encephalopathy	Nonketotic Hyperglycinemia
ANK1	Spherocytosis, type 1
ANK2	Cardiac arrhythmia, ankyrin-B-related Long QT syndrome 4	Long QT Syndrome
ANK3	Mental retardation, autosomal recessive
ANKH	Chondrocalcinosis 2 Craniometaphyseal dysplasia	Craniometaphyseal Dysplasia, Autosomal Dominant
ANKRD1	Dilated Cardiomyopathy Overview
ANKRD11	KBG syndrome	KBG Syndrome
ANKRD26	Thrombocytopenia 2	ANKRD26-Related Thrombocytopenia
ANKS6	Nephronophthisis 16	Nephronophthisis
ANO10	Spinocerebellar ataxia, autosomal recessive 10
ANO5	Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Muscular dystrophy, limb-girdle	ANO5 Muscle Disease
ANOS1	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
ANTXR1	GAPO syndrome
ANTXR2	Hyaline fibromatosis syndrome	Hyaline Fibromatosis Syndrome
AP1B1	Keratitis-ichthyosis-deafness syndrome, autosomal recessive
AP1S1	MEDNIK syndrome
AP1S2	Pettigrew syndrome
AP3B1	Hermansky-Pudlak syndrome 2	Hermansky-Pudlak Syndrome
AP3B2	Developmental and epileptic encephalopathy 48
AP4B1	Spastic paraplegia 47, autosomal recessive	AP-4-Associated Hereditary Spastic Paraplegia
AP4E1	Spastic paraplegia 51, autosomal recessive Stuttering, familial persistent	AP-4-Associated Hereditary Spastic Paraplegia
AP4M1	Spastic paraplegia 50, autosomal recessive	AP-4-Associated Hereditary Spastic Paraplegia
AP4S1	Spastic paraplegia 52, autosomal recessive	AP-4-Associated Hereditary Spastic Paraplegia
APC	Adenoma, periampullary Adenomatous polyposis coli Brain tumor-polyposis syndrome 2 Colorectal cancer, somatic Desmoid disease, hereditary Gardner syndrome Gastric adenocarcinoma and proximal polyposis of the stomach Gastric cancer, somatic Hepatoblastoma, somatic	APC-Associated Polyposis Conditions
APC2	Cortical dysplasia, complex Intellectual developmental disorder, autosomal recessive 74
APOB	Hypercholesterolemia, familial Hypobetalipoproteinemia	Familial Hypercholesterolemia APOB-Related Familial Hypobetalipoproteinemia
APTX	Ataxia, early-onset	Ataxia with Oculomotor Apraxia Type 1
AR	Androgen insensitivity Androgen insensitivity, partial Hypospadias 1, X-linked Spinal and bulbar muscular atrophy of Kennedy	Spinal and Bulbar Muscular Atrophy Androgen Insensitivity Syndrome
ARCN1	Short stature, rhizomelic
ARFGEF2	Periventricular heterotopia with microcephaly
ARG1	Argininemia	Arginase Deficiency Urea Cycle Disorders Overview
ARHGAP31	Adams-Oliver syndrome 1	Adams-Oliver Syndrome
ARHGDIA	Nephrotic syndrome, type 8
ARHGEF9	Developmental and epileptic encephalopathy 8
ARID1A	Coffin-Siris syndrome 2	Coffin-Siris Syndrome
ARID1B	Coffin-Siris syndrome 1	Coffin-Siris Syndrome ARID1B-Related Disorder
ARID2	Coffin-Siris syndrome 6	Coffin-Siris Syndrome
ARL13B	Joubert syndrome 8	Joubert Syndrome
ARL3	Joubert syndrome 35 Retinitis pigmentosa 83
ARL6	Bardet-Biedl syndrome 3 Retinitis pigmentosa 55	Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview
ARL6IP1
ARMC4	Ciliary dyskinesia, primary
ARMC9	Joubert syndrome 30
ARNT2
ARSA	Metachromatic leukodystrophy	Arylsulfatase A Deficiency
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ARSL	Chondrodysplasia Punctata 1, X-Linked
ARV1	Developmental and epileptic encephalopathy 38
ARX	Developmental and epileptic encephalopathy 1 Hydranencephaly with abnormal genitalia Intellectual developmental disorder, X-linked 29 Lissencephaly, X-linked 2 Partington syndrome Proud syndrome
ASAH1	Farber lipogranulomatosis Spinal muscular atrophy with progressive myoclonic epilepsy	ASAH1-Related Disorders
ASCC1	Barrett esophagus/esophageal adenocarcinoma Spinal muscular atrophy with congenital bone fractures 2
ASH1L	Mental retardation, autosomal dominant 52
ASL	Argininosuccinic aciduria	Urea Cycle Disorders Overview Argininosuccinate Lyase Deficiency
ASNS	Asparagine synthetase deficiency	Asparagine Synthetase Deficiency
ASPA	Canavan disease	Canavan Disease
ASPH	Traboulsi syndrome
ASPM	Microcephaly 5, primary	ASPM Primary Microcephaly
ASS1	Citrullinemia	Urea Cycle Disorders Overview Citrullinemia Type I
ASXL1	Bohring-Opitz syndrome Myelodysplastic syndrome, somatic	Bohring-Optiz Syndrome
ASXL2	Shashi-Pena syndrome
ASXL3	Bainbridge-Ropers syndrome	ASXL3-Related Disorder
ATAD3A	Harel-Yoon syndrome Pontocerebellar hypoplasia, hypotonia
ATCAY	Ataxia, cerebellar
ATIC	AICA-ribosiduria due to ATIC deficiency
ATL1	Neuropathy, hereditary sensory Spastic paraplegia 3A, autosomal dominant	Spastic Paraplegia 3A
ATM	Ataxia-telangiectasia Lymphoma, B-cell non-Hodgkin Lymphoma, mantle cell T-cell prolymphocytic leukemia, somatic (3)	Ataxia-Telangiectasia
ATOH7	Persistent hyperplastic primary vitreous, autosomal recessive
ATP13A2	Kufor-Rakeb syndrome Spastic paraplegia 78, autosomal recessive
ATP1A1	Charcot-Marie-Tooth disease, axonal Hypomagnesemia, seizures
ATP1A2	Alternating hemiplegia of childhood 1 Developmental and epileptic encephalopathy 98 Fetal akinesia, respiratory insufficiency Migraine, familial basilar Migraine, familial hemiplegic	Familial Hemiplegic Migraine
ATP1A3	Alternating hemiplegia of childhood 2 CAPOS syndrome Developmental and epileptic encephalopathy 99 Dystonia-12	ATP1A3-Related Neurologic Disorders
ATP2A1	Brody myopathy
ATP2B3
ATP6AP2	Congenital disorder of glycosylation, type IIr Intellectual developmental disorder, X-linked
ATP6V0A2	Cutis laxa, autosomal recessive Wrinkly skin syndrome	ATP6V0A2-Related Cutis Laxa
ATP6V0A4	Distal renal tubular acidosis 3, with or without sensorineural hearing loss	Hereditary Distal Renal Tubular Acidosis
ATP6V1A	Cutis laxa, autosomal recessive Developmental and epileptic encephalopathy 93
ATP6V1B1	Distal renal tubular acidosis 2 with progressive sensorineural hearing loss	Hereditary Distal Renal Tubular Acidosis
ATP6V1B2	Deafness, congenital Zimmermann-Laband syndrome 2
ATP7A	Menkes disease Occipital horn syndrome Spinal muscular atrophy, distal	Charcot-Marie-Tooth Hereditary Neuropathy Overview ATP7A-Related Copper Transport Disorders
ATP7B	Wilson disease	Wilson Disease
ATP8A2
ATP8B1	Cholestasis, benign recurrent intrahepatic Cholestasis, intrahepatic Cholestasis, progressive familial intrahepatic 1	ATP8B1 Deficiency
ATRX	Alpha-thalassemia myelodysplasia syndrome, somatic Alpha-thalassemia/mental retardation syndrome Mental retardation-hypotonic facies syndrome, X-linked	Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
AUH	3-methylglutaconic aciduria, type I
AUTS2	Intellectual developmental disorder, autosomal dominant 26
AVPR2	Diabetes insipidus, nephrogenic Nephrogenic syndrome of inappropriate antidiuresis	Hereditary Nephrogenic Diabetes Insipidus
B3GALNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A
B3GALT6	Al-Gazali syndrome Ehlers-Danlos syndrome, spondylodysplastic type Spondyloepimetaphyseal dysplasia with joint laxity, type 1
B3GALTL	Peters-plus syndrome
B3GAT3	Multiple joint dislocations, short stature
B3GLCT	Peters-plus syndrome	Peters Plus Syndrome
B4GALNT1	Spastic paraplegia 26, autosomal recessive
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type
B4GAT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
B9D1	Joubert syndrome 27	Joubert Syndrome
B9D2	Joubert syndrome 34	Joubert Syndrome
BAAT	Bile acid conjugation defect 1
BAG3	Cardiomyopathy, dilated Myopathy, myofibrillar	Dilated Cardiomyopathy Overview Charcot-Marie-Tooth Hereditary Neuropathy Overview
BANF1	Nestor-Guillermo progeria syndrome
BBS1	Bardet-Biedl syndrome 1	Bardet-Biedl Syndrome Overview
BBS10	Bardet-Biedl syndrome 10	Bardet-Biedl Syndrome Overview
BBS12	Bardet-Biedl syndrome 12	Bardet-Biedl Syndrome Overview
BBS2	Bardet-Biedl syndrome 2 Retinitis pigmentosa 74	Bardet-Biedl Syndrome Overview
BBS4	Bardet-Biedl syndrome 4	Bardet-Biedl Syndrome Overview
BBS5	Bardet-Biedl syndrome 5	Bardet-Biedl Syndrome Overview
BBS7	Bardet-Biedl syndrome 7	Bardet-Biedl Syndrome Overview
BBS9	Bardet-Biedl syndrome 9	Bardet-Biedl Syndrome Overview
BCAP31	Deafness, dystonia
BCKDHA	Maple syrup urine disease, type Ia	Maple Syrup Urine Disease
BCKDHB	Maple syrup urine disease, type Ib	Maple Syrup Urine Disease
BCL11A	Dias-Logan syndrome	BCL11A-Related Intellectual Disability
BCOR	Microphthalmia, syndromic 2
BCS1L	Bjornstad syndrome GRACILE syndrome Mitochondrial complex III deficiency, nuclear type 1	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
BGN	Meester-Loeys syndrome Spondyloepimetaphyseal dysplasia, X-linked	Heritable Thoracic Aortic Disease Overview
BHLHA9	Syndactyly, mesoaxial synostotic
BICD2	Spinal muscular atrophy, lower extremity-predominant Spinal muscular atrophy, lower extremity-predominant
BIN1	Centronuclear myopathy 2
BLM	Bloom syndrome	Wilms Tumor Predisposition Bloom Syndrome
BLNK
BMP1	Osteogenesis imperfecta, type XIII
BMP2	Brachydactyly, type A2 Short stature, facial dysmorphism
BMP4	Microphthalmia, syndromic 6 Orofacial cleft 11
BMPER	Diaphanospondylodysostosis
BMPR1A	Polyposis syndrome, hereditary mixed Polyposis, juvenile intestinal	Juvenile Polyposis Syndrome
BMPR1B	Acromesomelic dysplasia 3 Brachydactyly, type A1 Brachydactyly, type A2	Heritable Pulmonary Arterial Hypertension Overview
BMPR2	Pulmonary hypertension, familial primary Pulmonary hypertension, primary Pulmonary venoocclusive disease 1	Heritable Pulmonary Arterial Hypertension Overview
BOLA3	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
BPTF	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
BRAF	Adenocarcinoma of lung, somatic Cardiofaciocutaneous syndrome Colorectal cancer, somatic LEOPARD syndrome 3 Melanoma, malignant Nonsmall cell lung cancer, somatic Noonan syndrome 7	Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines
BRAT1	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures Rigidity and multifocal seizure syndrome, lethal neonatal
BRCA1	Fanconi anemia, complementation group S	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer Fanconi Anemia
BRCA2	Fanconi anemia, complementation group D1 Wilms tumor	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer Wilms Tumor Predisposition Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
BRPF1	Intellectual developmental disorder with dysmorphic facies and ptosis
BRWD3	Intellectual developmental disorder, X-linked 93
BSCL2	Encephalopathy, progressive Lipodystrophy, congenital generalized Neuropathy, distal hereditary motor Silver spastic paraplegia syndrome	Berardinelli-Seip Congenital Lipodystrophy BSCL2-Related Neurologic Disorders/Seipinopathy
BSND	Bartter syndrome, type 4a Sensorineural deafness with mild renal dysfunction
BTD	Biotinidase deficiency	Biotinidase Deficiency
BTK	Agammaglobulinemia, X-linked 1 Isolated growth hormone deficiency, type III	X-Linked Agammaglobulinemia
C10ORF2
C12orf57	Temtamy syndrome
C12orf65	Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive
C19orf12	Neurodegeneration with brain iron accumulation 4	Neurodegeneration with Brain Iron Accumulation Disorders Overview Mitochondrial Membrane Protein-Associated Neurodegeneration
C1QBP	Combined oxidative phosphorylation deficiency 33
C2CD3	Orofaciodigital syndrome XIV	Joubert Syndrome
C8orf37	Bardet-Biedl syndrome 21 Cone-rod dystrophy 16 Retinitis pigmentosa 64
CA2	Osteopetrosis, autosomal recessive 3
CA5A	Hyperammonemia due to carbonic anhydrase VA deficiency	Carbonic Anhydrase VA Deficiency
CA8	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
CACNA1A	Developmental and epileptic encephalopathy 42 Episodic ataxia, type 2 Migraine, familial hemiplegic Migraine, familial hemiplegic Spinocerebellar ataxia 6	Spinocerebellar Ataxia Type 6 Familial Hemiplegic Migraine
CACNA1C	Brugada syndrome 3 Long QT syndrome 8 Timothy syndrome	Long QT Syndrome CACNA1C-Related Disorders Brugada Syndrome
CACNA1D	Primary aldosteronism, seizures Sinoatrial node dysfunction and deafness
CACNA1E	Developmental and epileptic encephalopathy 69
CACNA1F	Aland Island eye disease Cone-rod dystrophy, X-linked Night blindness, congenital stationary (incomplete)	X-Linked Congenital Stationary Night Blindness
CACNA1G	Spinocerebellar ataxia 42 Spinocerebellar ataxia 42, early-onset
CACNA1S	Hypokalemic periodic paralysis, type 1	Malignant Hyperthermia Susceptibility Hypokalemic Periodic Paralysis
CAD	Developmental and epileptic encephalopathy 50
CAMK2A	Mental retardation, autosomal dominant 53
CAMK2B	Mental retardation, autosomal dominant 54
CAMTA1	Cerebellar dysfunction with variable cognitive and behavioral abnormalities
CANT1	Desbuquois dysplasia 1 Epiphyseal dysplasia, multiple
CAPN3	Muscular dystrophy, limb-girdle Muscular dystrophy, limb-girdle	Calpainopathy
CARD11	B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11A Immunodeficiency 11B with atopic dermatitis
CARS2	Combined oxidative phosphorylation deficiency 27
CASK	FG syndrome 4 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia Mental retardation, with or without nystagmus	CASK Disorders
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic	Catecholaminergic Polymorphic Ventricular Tachycardia
CASR	Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant Hypocalciuric hypercalcemia, type I	Pancreatitis Overview
CAV1	Lipodystrophy, familial partial Pulmonary hypertension, primary	Heritable Pulmonary Arterial Hypertension Overview
CAV3	Cardiomyopathy, familial hypertrophic Creatine phosphokinase, elevated serum Long QT syndrome 9 Myopathy, distal Rippling muscle disease 2	Long QT Syndrome
CAVIN1	Lipodystrophy, congenital generalized
CBL	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBS	Homocystinuria, B6-responsive and nonresponsive types Thrombosis, hyperhomocysteinemic	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
CC2D1A	Mental retardation, autosomal recessive 3
CC2D2A	COACH syndrome 2 Joubert syndrome 9 Meckel syndrome 6	Joubert Syndrome
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome 1
CCDC103	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CCDC115	Congenital disorder of glycosylation, type IIo
CCDC22	Ritscher-Schinzel syndrome 2	Ritscher-Schinzel Syndrome
CCDC39	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CCDC40	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CCDC47	Trichohepatoneurodevelopmental syndrome
CCDC65	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CCDC78
CCDC8	3-M syndrome 3	Three M Syndrome
CCDC88A
CCDC88C	Hydrocephalus, congenital
CCND2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	MPPH Syndrome
CCNK
CCNO	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CCNQ
CCT5	Neuropathy, hereditary sensory
CD19	Immunodeficiency, common variable
CD247
CD3D	Immunodeficiency 19
CD3E	Immunodeficiency 18 Immunodeficiency 18, SCID variant
CD3G	Immunodeficiency 17, CD3 gamma deficient
CD40	Immunodeficiency with hyper-IgM, type 3
CD40LG	Immunodeficiency, X-linked	X-Linked Hyper IgM Syndrome
CD79A	Agammaglobulinemia 3
CD79B	Agammaglobulinemia 6
CD96	C syndrome
CDAN1	Dyserythropoietic anemia, congenital	Congenital Dyserythropoietic Anemia Type I
CDC45
CDH1	Blepharocheilodontic syndrome 1 Breast cancer, lobular Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate Endometrial carcinoma, somatic Ovarian cancer, somatic	Hereditary Diffuse Gastric Cancer
CDH2	Agenesis of corpus callosum, cardiac Arrhythmogenic right ventricular dysplasia, familial
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D/F digenic	Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview
CDH3	Ectodermal dysplasia, ectrodactyly Hypotrichosis, congenital Mental retardation, autosomal dominant 3
CDK10	Al Kaissi syndrome
CDK13	Congenital heart defects, dysmorphic facial features	CDK13-Related Disorder
CDK19	Developmental and epileptic encephalopathy 87
CDK5RAP2	Microcephaly 3, primary
CDKL5	Developmental and epileptic encephalopathy 2
CDKN1C	Beckwith-Wiedemann syndrome IMAGE syndrome	Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome IMAGe Syndrome
CDKN2A
CDON	Holoprosencephaly 11	Holoprosencephaly Overview
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CDT1	Meier-Gorlin syndrome 4
CENPF	Stromme syndrome
CENPJ	Microcephaly 6, primary
CEP104	Joubert syndrome 25	Joubert Syndrome
CEP135	Microcephaly 8, primary
CEP152	Microcephaly 9, primary Seckel syndrome 5
CEP164	Nephronophthisis 15	Nephronophthisis
CEP290	Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6	Joubert Syndrome Bardet-Biedl Syndrome Overview Nephronophthisis
CEP41	Joubert syndrome 15	Joubert Syndrome
CEP57	Mosaic variegated aneuploidy syndrome 2
CEP63
CEP83	Nephronophthisis 18	Nephronophthisis
CERS1
CERS3	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
CERT1
CFAP298	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
CFAP300	Ciliary dyskinesia, primary
CFAP410	Retinal dystrophy with macular staphyloma Spondylometaphyseal dysplasia, axial
CFC1	Heterotaxy, visceral
CFL2	Nemaline myopathy 7, autosomal recessive
CFP
CFTR	Congenital bilateral absence of vas deferens Cystic fibrosis Sweat chloride elevation without CF (3)	Cystic Fibrosis and Congenital Absence of the Vas Deferens Pancreatitis Overview
CHAMP1	Mental retardation, autosomal dominant 40
CHAT	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
CHD2	Developmental and epileptic encephalopathy 94	CHD2-Related Neurodevelopmental Disorders
CHD3	Snijders Blok-Campeau syndrome
CHD4	Sifrim-Hitz-Weiss syndrome	CHD4 Neurodevelopmental Disorder
CHD7	CHARGE syndrome Hypogonadotropic hypogonadism 5 with or without anosmia	CHD7 Disorder Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Esophageal Atresia/Tracheoesophageal Fistula Overview
CHD8
CHKB	Muscular dystrophy, congenital
CHM	Choroideremia	Choroideremia
CHMP1A	Pontocerebellar hypoplasia, type 8
CHRDL1	Megalocornea 1, X-linked 309300 (3)
CHRNA1	Multiple pterygium syndrome, lethal type Myasthenic syndrome, congenital Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
CHRNA2	Epilepsy, nocturnal frontal lobe	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
CHRNA4	Epilepsy, nocturnal frontal lobe	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
CHRNB1	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
CHRND	Multiple pterygium syndrome, lethal type Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
CHRNE	Myasthenic syndrome, congenital Myasthenic syndrome, congenital Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
CHRNG	Escobar syndrome Multiple pterygium syndrome, lethal type
CHST14	Ehlers-Danlos syndrome, musculocontractural type 1
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-Related Skeletal Dysplasia
CHSY1	Temtamy preaxial brachydactyly syndrome
CHUK	Cocoon syndrome
CIB2	Deafness, autosomal recessive 48 Usher syndrome, type IJ	Usher Syndrome Type I
CILK1
CISD2	Wolfram syndrome 2
CIT	Microcephaly 17, primary
CKAP2L	Filippi syndrome
CLCN1	Myotonia congenita, dominant Myotonia congenita, recessive Myotonia levior, recessive (3)	Myotonia Congenita
CLCN2	Hyperaldosteronism, familial Leukoencephalopathy with ataxia	CLCN2-Related Leukoencephalopathy
CLCN4	Raynaud-Claes syndrome	CLCN4-Related Neurodevelopmental Disorder
CLCN5	Dent disease 1 Hypophosphatemic rickets Nephrolithiasis, type I Proteinuria, low molecular weight	Dent Disease
CLCN7	Hypopigmentation, organomegaly Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 4	CLCN7-Related Osteopetrosis
CLCNKB	Bartter syndrome, type 3 Bartter syndrome, type 4b
CLDN1	Ichthyosis, leukocyte vacuoles
CLDN14	Deafness, autosomal recessive 29	Hereditary Hearing Loss and Deafness Overview
CLDN16	Hypomagnesemia 3, renal
CLDN19	Hypomagnesemia 5, renal
CLMP	Congenital short bowel syndrome
CLN3	Ceroid lipofuscinosis, neuronal
CLN5	Ceroid lipofuscinosis, neuronal
CLN6	Ceroid lipofuscinosis, neuronal Ceroid lipofuscinosis, neuronal
CLN8	Ceroid lipofuscinosis, neuronal Ceroid lipofuscinosis, neuronal
CLP1	Pontocerebellar hypoplasia, type 10
CLPB	3-methylglutaconic aciduria, type VII	CLPB Deficiency
CLPP	Perrault syndrome 3	Perrault Syndrome
CLRN1	Retinitis pigmentosa 61 Usher syndrome, type 3A	Nonsyndromic Retinitis Pigmentosa Overview
CLTC	Mental retardation, autosomal dominant 56
CNGB3	Achromatopsia 3	Achromatopsia
CNNM2	Hypomagnesemia 6, renal Hypomagnesemia, seizures
CNOT1	Holoprosencephaly 12, with or without pancreatic agenesis Vissers-Bodmer syndrome
CNOT3	Intellectual developmental disorder with speech delay, autism
CNPY3	Developmental and epileptic encephalopathy 60
CNTNAP1	Hypomyelinating neuropathy, congenital Lethal congenital contracture syndrome 7	Charcot-Marie-Tooth Hereditary Neuropathy Overview
CNTNAP2	Pitt-Hopkins like syndrome 1
COA6	Mitochondrial complex IV deficiency, nuclear type 13
COA8
COASY	Neurodegeneration with brain iron accumulation 6 Pontocerebellar hypoplasia, type 12	Neurodegeneration with Brain Iron Accumulation Disorders Overview
COCH	Deafness, autosomal dominant 9	Hereditary Hearing Loss and Deafness Overview
COG1	Congenital disorder of glycosylation, type IIg	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
COG4	Congenital disorder of glycosylation, type IIj Saul-Wilson syndrome	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview Saul-Wilson Syndrome
COG5	Congenital disorder of glycosylation, type IIi	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
COG6	Congenital disorder of glycosylation, type IIl Shaheen syndrome	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
COG7	Congenital disorder of glycosylation, type IIe	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
COG8	Congenital disorder of glycosylation, type IIh	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
COL10A1	Metaphyseal chondrodysplasia, Schmid type	Schmid Metaphyseal Chondrodysplasia
COL11A1	Deafness, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome, type II	Stickler Syndrome
COL11A2	Deafness, autosomal dominant 13 Deafness, autosomal recessive 53 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Stickler Syndrome Hereditary Hearing Loss and Deafness Overview
COL17A1	Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional Epithelial recurrent erosion dystrophy	Junctional Epidermolysis Bullosa
COL1A1	Caffey disease Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 Ehlers-Danlos syndrome, arthrochalasia type Osteogenesis imperfecta, type I Osteogenesis imperfecta, type II Osteogenesis imperfecta, type III Osteogenesis imperfecta, type IV	Classic Ehlers-Danlos Syndrome COL1A1/2 Osteogenesis Imperfecta Caffey Disease
COL1A2	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome, cardiac valvular type Osteogenesis imperfecta, type II Osteogenesis imperfecta, type III Osteogenesis imperfecta, type IV	COL1A1/2 Osteogenesis Imperfecta
COL2A1	Achondrogenesis, type II or hypochondrogenesis Avascular necrosis of the femoral head Czech dysplasia Kniest dysplasia Legg-Calve-Perthes disease Osteoarthritis with mild chondrodysplasia Platyspondylic skeletal dysplasia, Torrance type SED congenita SMED Strudwick type Spondyloepiphyseal dysplasia, Stanescu type Spondyloperipheral dysplasia Stickler sydrome, type I Stickler syndrome, type I	Stickler Syndrome Type II Collagen Disorders Overview Spondylometaphyseal Dysplasia, Corner Fracture Type
COL3A1	Ehlers-Danlos syndrome, vascular type Polymicrogyria with or without vascular-type EDS	Vascular Ehlers-Danlos Syndrome
COL4A1	Angiopathy, hereditary Brain small vessel disease with or without ocular anomalies Microangiopathy and leukoencephalopathy, pontine	COL4A1-Related Disorders
COL4A2	Brain small vessel disease 2
COL4A3	Alport syndrome 2, autosomal recessive Alport syndrome 3, autosomal dominant Hematuria, benign familial	Alport Syndrome
COL4A4	Alport syndrome 2, autosomal recessive Hematuria, familial benign	Alport Syndrome
COL4A5	Alport syndrome 1, X-linked	Alport Syndrome
COL5A1	Ehlers-Danlos syndrome, classic type Fibromuscular dysplasia, multifocal	Classic Ehlers-Danlos Syndrome
COL5A2	Ehlers-Danlos syndrome, classic type	Classic Ehlers-Danlos Syndrome
COL6A1	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1	Collagen VI-Related Dystrophies
COL6A2	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1	Collagen VI-Related Dystrophies
COL6A3	Bethlem myopathy 1 Dystonia 27 Ullrich congenital muscular dystrophy 1	Collagen VI-Related Dystrophies
COL7A1	EBD inversa EBD, Bart type EBD, localisata variant (3) Epidermolysis bullosa dystrophica, AD Epidermolysis bullosa dystrophica, AR Epidermolysis bullosa pruriginosa Epidermolysis bullosa, pretibial Toenail dystrophy, isolated Transient bullous of the newborn	Dystrophic Epidermolysis Bullosa
COL9A1	Stickler syndrome, type IV	Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome
COL9A2	Epiphyseal dysplasia, multiple	Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome
COL9A3	Epiphyseal dysplasia, multiple	Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome
COLEC10	3MC syndrome 3
COLEC11	3MC syndrome 2
COLQ	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
COMP	Carpal tunnel syndrome 2 Epiphyseal dysplasia, multiple Pseudoachondroplasia	Multiple Epiphyseal Dysplasia, Dominant Pseudoachondroplasia
COQ2	Coenzyme Q10 deficiency, primary	Primary Coenzyme Q10 Deficiency
COQ4	Coenzyme Q10 deficiency, primary	Primary Coenzyme Q10 Deficiency
COQ6	Coenzyme Q10 deficiency, primary	Primary Coenzyme Q10 Deficiency
COQ8A	Primary Coenzyme Q10 Deficiency
COQ8B	Nephrotic syndrome, type 9	Primary Coenzyme Q10 Deficiency
COQ9	Coenzyme Q10 deficiency, primary	Primary Coenzyme Q10 Deficiency
CORO1A	Immunodeficiency 8
COX10	Mitochondrial complex IV deficiency, nuclear type 3	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
COX15	Mitochondrial complex IV deficiency, nuclear type 6
COX20	Mitochondrial complex IV deficiency, nuclear type 11
COX6B1	Mitochondrial complex IV deficiency, nuclear type 7
COX7B	Linear skin defects with multiple congenital anomalies 2	Microphthalmia with Linear Skin Defects Syndrome
CP	Cerebellar ataxia Hemosiderosis, systemic	Aceruloplasminemia Neurodegeneration with Brain Iron Accumulation Disorders Overview
CPLANE1	Joubert syndrome 17 Orofaciodigital syndrome VI	Joubert Syndrome
CPS1	Carbamoylphosphate synthetase I deficiency	Urea Cycle Disorders Overview
CPT1A	CPT deficiency, hepatic	Carnitine Palmitoyltransferase 1A Deficiency
CPT2	CPT II deficiency, infantile CPT II deficiency, lethal neonatal CPT II deficiency, myopathic	Carnitine Palmitoyltransferase II Deficiency
CRADD	Intellectual developmental disorder, autosomal recessive 34
CRB1	Leber congenital amaurosis 8 Pigmented paravenous chorioretinal atrophy Retinitis pigmentosa-12	Nonsyndromic Retinitis Pigmentosa Overview
CRB2	Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease
CRBN	Mental retardation, autosomal recessive 2
CREB3L1	Osteogenesis imperfecta, type XVI
CREBBP	Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome 1	Rubinstein-Taybi Syndrome
CRELD1	Atrioventricular septal defect, partial
CRIPT	Short stature with microcephaly and distinctive facies
CRLF1	Cold-induced sweating syndrome 1	Cold-Induced Sweating Syndrome including Crisponi Syndrome
CRPPA	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
CRTAP	Osteogenesis imperfecta, type VII
CRX	Cone-rod retinal dystrophy-2 Leber congenital amaurosis 7	Nonsyndromic Retinitis Pigmentosa Overview
CRYAA	Cataract 9, multiple types
CRYAB	Cardiomyopathy, dilated Cataract 16, multiple types Myopathy, myofibrillar Myopathy, myofibrillar
CSF1R	Brain abnormalities, neurodegeneration Leukoencephalopathy, diffuse hereditary	CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
CSF2RA	Surfactant metabolism dysfunction, pulmonary
CSF2RB	Surfactant metabolism dysfunction, pulmonary
CSF3R	Neutropenia, severe congenital
CSNK2A1	Okur-Chung neurodevelopmental syndrome
CSNK2B	Poirier-Bienvenu neurodevelopmental syndrome
CSPP1	Joubert syndrome 21	Joubert Syndrome
CSRP3	Cardiomyopathy, hypertrophic	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
CSTA	Peeling skin syndrome 4
CSTB	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	Progressive Myoclonic Epilepsy Type 1
CTC1	Cerebroretinal microangiopathy with calcifications and cysts	Dyskeratosis Congenita
CTCF	Mental retardation, autosomal dominant 21
CTDP1	Congenital cataracts, facial dysmorphism	Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTNNA2	Cortical dysplasia, complex
CTNNB1	Colorectal cancer, somatic Exudative vitreoretinopathy 7 Hepatocellular carcinoma, somatic Medulloblastoma, somatic Neurodevelopmental disorder with spastic diplegia and visual defects Ovarian cancer, somatic Pilomatricoma, somatic
CTNND1	Blepharocheilodontic syndrome 2
CTNS	Cystinosis, atypical nephropathic Cystinosis, late-onset juvenile or adolescent nephropathic Cystinosis, nephropathic Cystinosis, ocular nonnephropathic	Cystinosis
CTPS1	Immunodeficiency 24
CTSA	Galactosialidosis
CTSD	Ceroid lipofuscinosis, neuronal
CTSK	Pycnodysostosis	Pycnodysostosis
CTU2	Microcephaly, facial dysmorphism
CUBN	Imerslund-Grasbeck syndrome 1
CUL3	Neurodevelopmental disorder with or without autism or seizures Pseudohypoaldosteronism, type IIE	Pseudohypoaldosteronism Type II
CUL4B	Mental retardation, X-linked
CUL7	3-M syndrome 1	Three M Syndrome
CWC27	Retinitis pigmentosa with or without skeletal anomalies
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17
CXCR4	Myelokathexis, isolated WHIM syndrome 1
CYB5R3	Methemoglobinemia, type I Methemoglobinemia, type II
CYBA	Chronic granulomatous disease 4, autosomal recessive	Chronic Granulomatous Disease
CYBB	Chronic granulomatous disease, X-linked Immunodeficiency 34, mycobacteriosis	Chronic Granulomatous Disease
CYC1	Mitochondrial complex III deficiency, nuclear type 6
CYP11A1	Adrenal insufficiency, congenital
CYP11B1	Adrenal hyperplasia, congenital Aldosteronism, glucocorticoid-remediable
CYP11B2	Aldosterone to renin ratio raised (3) Hypoaldosteronism, congenital Hypoaldosteronism, congenital
CYP17A1	17,20-lyase deficiency, isolated 17-alpha-hydroxylase/17,20-lyase deficiency
CYP21A2	Adrenal hyperplasia, congenital Hyperandrogenism, nonclassic type	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
CYP24A1	Hypercalcemia, infantile
CYP27A1	Cerebrotendinous xanthomatosis	Cerebrotendinous Xanthomatosis
CYP27B1	Vitamin D-dependent rickets, type I
CYP2U1	Spastic paraplegia 56, autosomal recessive
CYP4F22	Ichthyosis, congenital
CYP7B1	Bile acid synthesis defect, congenital Spastic paraplegia 5A, autosomal recessive
D2HGDH	D-2-hydroxyglutaric aciduria
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
DARS1	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
DBT	Maple syrup urine disease, type II	Maple Syrup Urine Disease
DCAF17	Woodhouse-Sakati syndrome	Neurodegeneration with Brain Iron Accumulation Disorders Overview Woodhouse-Sakati Syndrome
DCDC2	Nephronophthisis 19 Sclerosing cholangitis, neonatal	Nephronophthisis
DCHS1	Mitral valve prolapse 2 Van Maldergem syndrome 1
DCLRE1C	Omenn syndrome Severe combined immunodeficiency, Athabascan type
DCX	Lissencephaly, X-linked Subcortical laminal heterotopia, X-linked	DCX-Related Disorders
DDB2	Xeroderma pigmentosum, group E	Xeroderma Pigmentosum
DDC	Aromatic L-amino acid decarboxylase deficiency
DDHD1	Spastic paraplegia 28, autosomal recessive
DDHD2	Spastic paraplegia 54, autosomal recessive
DDR2	Spondylometaepiphyseal dysplasia, short limb-hand type Warburg-Cinotti syndrome
DDX11	Warsaw breakage syndrome	Warsaw Syndrome
DDX3X	Intellectual developmental disorder, X-linked	DDX3X-Related Neurodevelopmental Disorder
DDX59	Orofaciodigital syndrome V
DDX6	Intellectual developmental disorder with impaired language and dysmorphic facies
DEAF1	Neurodevelopmental disorder with hypotonia, impaired expressive language Vulto-van Silfout-de Vries syndrome
DENND5A	Developmental and epileptic encephalopathy 49
DEPDC5	Epilepsy, familial focal	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy DEPDC5-Related Epilepsy
DES	Cardiomyopathy, dilated Myopathy, myofibrillar Scapuloperoneal syndrome, neurogenic	Dilated Cardiomyopathy Overview
DFNA5	Deafness, autosomal dominant 5
DFNB59	Deafness, autosomal recessive 59
DGAT1
DGKE	Nephrotic syndrome, type 7	Genetic Atypical Hemolytic-Uremic Syndrome C3 Glomerulopathy
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Portal hypertension, noncirrhotic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	Deoxyguanosine Kinase Deficiency
DHCR24	Desmosterolosis
DHCR7	Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz Syndrome
DHDDS	Developmental delay and seizures with or without movement abnormalities Retinitis pigmentosa 59	Nonsyndromic Retinitis Pigmentosa Overview
DHH	46XY gonadal dysgenesis with minifascicular neuropathy 46XY sex reversal 7	Nonsyndromic Disorders of Testicular Development
DHODH	Miller syndrome
DHTKD1	Alpha-aminoadipic and alpha-ketoadipic aciduria	Charcot-Marie-Tooth Hereditary Neuropathy Overview
DHX16	Neuromuscular disease and ocular or auditory anomalies with or without seizures
DHX30	Neurodevelopmental disorder with severe motor impairment and absent language
DHX37	46, XY sex reversal 11 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
DIAPH1	Deafness, autosomal dominant 1 Seizures, cortical blindness	Hereditary Hearing Loss and Deafness Overview
DIS3L2	Perlman syndrome	Wilms Tumor Predisposition
DKC1	Dyskeratosis congenita, X-linked	Dyskeratosis Congenita
DLAT	Pyruvate dehydrogenase E2 deficiency	Primary Pyruvate Dehydrogenase Complex Deficiency Overview
DLD	Dihydrolipoamide dehydrogenase deficiency	Dihydrolipoamide Dehydrogenase Deficiency Primary Pyruvate Dehydrogenase Complex Deficiency Overview
DLG3	Intellectual developmental disorder, X-linked 90
DLG4	Intellectual developmental disorder 62
DLL1	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Holoprosencephaly Overview
DLL3	Spondylocostal dysostosis 1, autosomal recessive	Spondylocostal Dysostosis, Autosomal Recessive
DLL4	Adams-Oliver syndrome 6	Adams-Oliver Syndrome
DLX5	Split-hand/foot malformation 1
DMD	Becker muscular dystrophy Cardiomyopathy, dilated Duchenne muscular dystrophy	Dystrophinopathies NR0B1-Related Adrenal Hypoplasia Congenita
DMP1	Hypophosphatemic rickets, AR
DMPK	Myotonic dystrophy 1	Myotonic Dystrophy Type 1
DMXL2	Developmental and epileptic encephalopathy 81
DNA2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
DNAAF1	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAAF3	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAAF4	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAAF5	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAH11	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAH5	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAH9	Ciliary dyskinesia, primary
DNAI1	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DNAJB6	Muscular dystrophy, limb-girdle
DNAJC12	Hyperphenylalaninemia, mild
DNAJC19	3-methylglutaconic aciduria, type V
DNAJC3
DNAJC5	Ceroid lipofuscinosis, neuronal
DNM1	Developmental and epileptic encephalopathy 31
DNM1L	Encephalopathy, lethal Optic atrophy 5
DNM2	Centronuclear myopathy 1 Charcot-Marie-Tooth disease, axonal type 2M Charcot-Marie-Tooth disease, dominant intermediate B Lethal congenital contracture syndrome 5
DNMT3A	Acute myeloid leukemia, somatic Heyn-Sproul-Jackson syndrome Tatton-Brown-Rahman syndrome
DNMT3B	Facioscapulohumeral muscular dystrophy 4, digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Facioscapulohumeral Muscular Dystrophy
DOCK6	Adams-Oliver syndrome 2	Adams-Oliver Syndrome
DOCK7	Developmental and epileptic encephalopathy 23
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
DOK7	Fetal akinesia deformation sequence 3 Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
DOLK	Congenital disorder of glycosylation, type Im	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
DPAGT1	Congenital disorder of glycosylation, type Ij Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
DPF2	Coffin-Siris syndrome 7	Coffin-Siris Syndrome
DPM1	Congenital disorder of glycosylation, type Ie	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
DPM2	Congenital disorder of glycosylation, type Iu	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
DPYD	5-fluorouracil toxicity Dihydropyrimidine dehydrogenase deficiency
DRC1	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
DSC2	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 11	Arrhythmogenic Right Ventricular Cardiomyopathy
DSE	Ehlers-Danlos syndrome, musculocontractural type 2
DSG1	Erythroderma, congenital Keratosis palmoplantaris striata I, AD
DSG2	Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated	Arrhythmogenic Right Ventricular Cardiomyopathy Dilated Cardiomyopathy Overview
DSP	Arrhythmogenic right ventricular dysplasia 8 Cardiomyopathy, dilated Dilated cardiomyopathy with woolly hair, keratoderma Epidermolysis bullosa, lethal acantholytic Keratosis palmoplantaris striata II Skin fragility-woolly hair syndrome	Arrhythmogenic Right Ventricular Cardiomyopathy
DST	Epidermolysis bullosa simplex 3, localized or generalized intermediate
DSTYK	Congenital anomalies of kidney and urinary tract 1 Spastic paraplegia 23
DTNA	Left ventricular noncompaction 1, with or without congenital heart defects
DUOX2	Thyroid dyshormonogenesis 6
DUOXA2	Thyroid dyshormonogenesis 5
DVL1	Robinow syndrome, autosomal dominant 2	Autosomal Dominant Robinow Syndrome
DVL3	Robinow syndrome, autosomal dominant 3	Autosomal Dominant Robinow Syndrome
DYM	Dyggve-Melchior-Clausen disease Smith-McCort dysplasia
DYNC1H1	Charcot-Marie-Tooth disease, axonal Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity-predominant 1	Charcot-Marie-Tooth Hereditary Neuropathy Overview
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly
DYRK1A	Mental retardation, autosomal dominant 7	DYRK1A Syndrome
DYSF	Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle Myopathy, distal	Dysferlinopathy
EARS2	Combined oxidative phosphorylation deficiency 12
EBF3	Hypotonia, ataxia	EBF3 Neurodevelopmental Disorder
EBP	Chondrodysplasia punctata, X-linked dominant MEND syndrome	Chondrodysplasia Punctata 2, X-Linked
ECEL1	Arthrogryposis, distal
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
EDA	Ectodermal dysplasia 1, hypohidrotic Tooth agenesis, selective	Hypohidrotic Ectodermal Dysplasia
EDAR	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type	Hypohidrotic Ectodermal Dysplasia
EDARADD	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type	Hypohidrotic Ectodermal Dysplasia
EDN3	Waardenburg syndrome, type 4B
EDNRA	Mandibulofacial dysostosis with alopecia
EDNRB	ABCD syndrome Waardenburg syndrome, type 4A
EED	Cohen-Gibson syndrome	EED-Related Overgrowth
EEF1A2	Developmental and epileptic encephalopathy 33 Mental retardation, autosomal dominant 38
EFEMP2	Cutis laxa, autosomal recessive	EFEMP2-Related Cutis Laxa
EFHC1
EFNB1	Craniofrontonasal dysplasia
EFTUD2	Mandibulofacial dysostosis, Guion-Almeida type	Mandibulofacial Dysostosis with Microcephaly
EGR2	Charcot-Marie-Tooth disease, type 1D Dejerine-Sottas disease Hypomyelinating neuropathy, congenital	Charcot-Marie-Tooth Hereditary Neuropathy Overview
EHMT1	Kleefstra syndrome 1	Kleefstra Syndrome
EIF2AK3	Wolcott-Rallison syndrome
EIF2B1	Leukoencephalopathy with vanishing white matter	Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
EIF2B2	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy	Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
EIF2B3	Leukoencephalopathy with vanishing white matter	Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
EIF2B4	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy	Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
EIF2B5	Leukoencephalopathy with vanishing white matter Ovarioleukodystrophy	Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
EIF2S3	MEHMO syndrome
EIF4A3	Robin sequence with cleft mandible and limb anomalies
ELANE	Neutropenia, cyclic Neutropenia, severe congenital 1	ELANE-Related Neutropenia
ELMO2	Vascular malformation, primary intraosseous
ELN	Cutis laxa, autosomal dominant Supravalvar aortic stenosis	Williams Syndrome
ELOVL4	Ichthyosis, spastic quadriplegia Spinocerebellar ataxia 34 Stargardt disease 3
ELP1	Dysautonomia, familial Medulloblastoma Osteogenesis imperfecta 21	Familial Dysautonomia
ELP2	Intellectual developmental disorder, autosomal recessive 58
EMC1	Cerebellar atrophy, visual impairment
EMD	Emery-Dreifuss muscular dystrophy 1, X-linked	Emery-Dreifuss Muscular Dystrophy
EMG1	Bowen-Conradi syndrome
ENG	Telangiectasia, hereditary hemorrhagic	Hereditary Hemorrhagic Telangiectasia
ENPP1	Arterial calcification, generalized Cole disease Hypophosphatemic rickets, autosomal recessive	Generalized Arterial Calcification of Infancy
ENTPD1	Spastic paraplegia 64, autosomal recessive
EOGT	Adams-Oliver syndrome 4	Adams-Oliver Syndrome
EPB42	Spherocytosis, type 5	EPB42-Related Hereditary Spherocytosis
EPCAM	Colorectal cancer, hereditary nonpolyposis Diarrhea 5, with tufting enteropathy	Lynch Syndrome
EPG5	Vici syndrome
EPHB4	Capillary malformation-arteriovenous malformation 2 Lymphatic malformation 7	Capillary Malformation-Arteriovenous Malformation Syndrome
EPM2A	Epilepsy, progressive myoclonic 2A (Lafora) Epilepsy, progressive myoclonic 2B (Lafora)	Progressive Myoclonus Epilepsy, Lafora Type
EPRS1
ERCC1	Cerebrooculofacioskeletal syndrome 4	Xeroderma Pigmentosum
ERCC2	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D	Xeroderma Pigmentosum
ERCC3	Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum, group B	Xeroderma Pigmentosum
ERCC4	Fanconi anemia, complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum, type F/Cockayne syndrome	Xeroderma Pigmentosum Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
ERCC5	Cerebrooculofacioskeletal syndrome 3 Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome	Xeroderma Pigmentosum
ERCC6	Cerebrooculofacioskeletal syndrome 1 Cockayne syndrome, type B Premature ovarian failure 11 UV-sensitive syndrome 1	Cockayne Syndrome
ERCC6L2	Bone marrow failure syndrome 2
ERCC8	Cockayne syndrome, type A UV-sensitive syndrome 2	Cockayne Syndrome
ERF	Chitayat syndrome Craniosynostosis 4
ERLIN1	Spastic paraplegia 62
ERLIN2	Spastic paraplegia 18, autosomal recessive
ESCO2	Juberg-Hayward syndrome Roberts-SC phocomelia syndrome	ESCO2 Spectrum Disorder
ESRRB	Deafness, autosomal recessive 35	Hereditary Hearing Loss and Deafness Overview
ETFA	Glutaric acidemia IIA	Multiple Acyl-CoA Dehydrogenase Deficiency
ETFB	Glutaric acidemia IIB	Multiple Acyl-CoA Dehydrogenase Deficiency
ETFDH	Glutaric acidemia IIC	Multiple Acyl-CoA Dehydrogenase Deficiency
ETHE1	Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy
EVC	Ellis-van Creveld syndrome
EVC2	Ellis-van Creveld syndrome Weyers acrofacial dysostosis
EXOSC3	Pontocerebellar hypoplasia, type 1B	EXOSC3 Pontocerebellar Hypoplasia
EXOSC8	Pontocerebellar hypoplasia, type 1C
EXOSC9	Pontocerebellar hypoplasia, type 1D
EXPH5	Epidermolysis bullosa simplex 4, localized or generalized intermediate	Epidermolysis Bullosa Simplex
EXT1	Chondrosarcoma Exostoses, multiple	Hereditary Multiple Osteochondromas Trichorhinophalangeal Syndrome
EXT2	Exostoses, multiple Seizures, scoliosis	Hereditary Multiple Osteochondromas
EXTL3	Immunoskeletal dysplasia with neurodevelopmental abnormalities
EYA1	Anterior segment anomalies with or without cataract Branchiootic syndrome 1 Branchiootorenal syndrome 1, with or without cataracts	Branchiootorenal Spectrum Disorder
EYA4	Deafness, autosomal dominant 10	Dilated Cardiomyopathy Overview Hereditary Hearing Loss and Deafness Overview
EZH2	Weaver syndrome	EZH2-Related Overgrowth
F10	Factor X deficiency
F11	Factor XI deficiency, autosomal dominant Factor XI deficiency, autosomal recessive
F13A1	Factor XIIIA deficiency
F2	Dysprothrombinemia Hypoprothrombinemia Thrombophilia 1 due to thrombin defect	Prothrombin Thrombophilia
F7	Factor VII deficiency
F8	Hemophilia A Thrombophilia 13, X-linked	Hemophilia A
F9	Hemophilia B Thrombophilia 8, X-linked	Hemophilia B
FA2H	Spastic paraplegia 35, autosomal recessive	Fatty Acid Hydroxylase-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview
FADD	Immunodeficiency 90 with encephalopathy, functional hyposplenia
FAH	Tyrosinemia, type I
FAM111A	Gracile bone dysplasia Kenny-Caffey syndrome, type 2
FAM126A	Leukodystrophy, hypomyelinating	Hypomyelination and Congenital Cataract
FAM149B1	Joubert syndrome 36
FAM161A	Retinitis pigmentosa 28	Nonsyndromic Retinitis Pigmentosa Overview
FAM20A	Amelogenesis imperfecta, type IG (enamel-renal syndrome)
FAM20C	Raine syndrome
FAM58A	STAR syndrome
FANCA	Fanconi anemia, complementation group A	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCB	Fanconi anemia, complementation group B	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCC	Fanconi anemia, complementation group C	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCD2	Fanconi anemia, complementation group D2	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCE	Fanconi anemia, complementation group E	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCF	Fanconi anemia, complementation group F	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCG	Fanconi anemia, complementation group G	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCI	Fanconi anemia, complementation group I	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCL	Fanconi anemia, complementation group L	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FANCM	Spermatogenic failure 28	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
FAR1	Cataracts, spastic paraparesis Peroxisomal fatty acyl-CoA reductase 1 disorder
FARS2	Combined oxidative phosphorylation deficiency 14 Spastic paraplegia 77, autosomal recessive	FARS2 Deficiency
FASTKD2	Combined oxidative phosphorylation deficiency 44
FAT4	Hennekam lymphangiectasia-lymphedema syndrome 2 Van Maldergem syndrome 2
FBLN5	Cutis laxa, autosomal recessive Macular degeneration, age-related Neuropathy, hereditary	FBLN5-Related Cutis Laxa
FBN1	Acromicric dysplasia Ectopia lentis, familial Geleophysic dysplasia 2 MASS syndrome Marfan lipodystrophy syndrome Marfan syndrome Stiff skin syndrome Weill-Marchesani syndrome 2, dominant	Weill-Marchesani Syndrome Heritable Thoracic Aortic Disease Overview FBN1-Related Marfan Syndrome Geleophysic Dysplasia
FBN2	Contractural arachnodactyly, congenital Macular degeneration, early-onset	Congenital Contractural Arachnodactyly
FBP1	Fructose-1,6-bisphosphatase deficiency	Fructose-1,6-Bisphosphatase Deficiency
FBXL4	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
FBXO11	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
FBXW11	Neurodevelopmental, jaw
FCSK	Congenital disorder of glycosylation with defective fucosylation 2
FEZF1	Hypogonadotropic hypogonadism 22, with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
FGA	Afibrinogenemia, congenital Amyloidosis, familial visceral Dysfibrinogenemia, congenital Hypodysfibrinogenemia, congenital
FGB	Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypofibrinogenemia, congenital
FGD1	Aarskog-Scott syndrome Mental retardation, X-linked syndromic 16
FGD4	Charcot-Marie-Tooth disease, type 4H
FGF10	Aplasia of lacrimal and salivary glands LADD syndrome
FGF12	Developmental and epileptic encephalopathy 47	Brugada Syndrome
FGF3	Deafness, congenital with inner ear agenesis	Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
FGF8	Hypogonadotropic hypogonadism 6 with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Holoprosencephaly Overview
FGF9	Multiple synostoses syndrome 3
FGFR1	Encephalocraniocutaneous lipomatosis, somatic mosaic Hartsfield syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Jackson-Weiss syndrome Osteoglophonic dysplasia Pfeiffer syndrome Trigonocephaly 1	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency FGFR Craniosynostosis Syndromes Overview FGFR1-Related Hartsfield Syndrome Encephalocraniocutaneous Lipomatosis
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Apert syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia syndrome Craniofacial-skeletal-dermatologic dysplasia Craniosynostosis, nonspecific (3) Crouzon syndrome Gastric cancer, somatic Jackson-Weiss syndrome LADD syndrome Pfeiffer syndrome Saethre-Chotzen syndrome Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion	FGFR Craniosynostosis Syndromes Overview Apert Syndrome
FGFR3	Achondroplasia Bladder cancer, somatic CATSHL syndrome Cervical cancer, somatic Colorectal cancer, somatic Crouzon syndrome with acanthosis nigricans Hypochondroplasia LADD syndrome Muenke syndrome Nevus, epidermal SADDAN Spermatocytic seminoma, somatic Thanatophoric dysplasia, type I Thanatophoric dysplasia, type II	Achondroplasia Thanatophoric Dysplasia Muenke Syndrome FGFR Craniosynostosis Syndromes Overview Hypochondroplasia
FGG	Afibrinogenemia, congenital Dysfibrinogenemia, congenital Hypodysfibrinogenemia Hypofibrinogenemia, congenital
FH	Fumarase deficiency Hypercholesterolemia, familial LDL cholesterol level QTL2 Leiomyomatosis and renal cell cancer	FH Tumor Predisposition Syndrome Fumarate Hydratase Deficiency
FHL1	Emery-Dreifuss muscular dystrophy 6, X-linked Hemophagocytic lymphohistiocytosis, familial Myopathy, X-linked Reducing body myopathy, X-linked 1a Reducing body myopathy, X-linked 1b Scapuloperoneal myopathy, X-linked dominant	Emery-Dreifuss Muscular Dystrophy
FKBP10	Bruck syndrome 1 Osteogenesis imperfecta, type XI
FKBP14	Ehlers-Danlos syndrome, kyphoscoliotic type	FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
FKTN	Cardiomyopathy, dilated Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C	Fukuyama Congenital Muscular Dystrophy
FLAD1	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
FLCN	Birt-Hogg-Dube syndrome Colorectal cancer, somatic Pneumothorax, primary spontaneous Renal carcinoma, chromophobe	Birt-Hogg-Dube Syndrome Potocki-Lupski Syndrome
FLNA	Cardiac valvular dysplasia, X-linked Congenital short bowel syndrome Frontometaphyseal dysplasia 1 Heterotopia, periventricular Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome Otopalatodigital syndrome, type I Otopalatodigital syndrome, type II Terminal osseous dysplasia	FLNA Deficiency X-Linked Otopalatodigital Spectrum Disorders
FLNB	Atelosteogenesis, type I Atelosteogenesis, type III Boomerang dysplasia Larsen syndrome Spondylocarpotarsal synostosis syndrome	FLNB Disorders
FLNC	Cardiomyopathy, familial hypertrophic Cardiomyopathy, familial restrictive 5 Myopathy, distal Myopathy, myofibrillar
FLT4	Congenital heart defects, multiple types Hemangioma, capillary infantile Lymphatic malformation 1	Milroy Disease
FLVCR1	Ataxia, posterior column
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
FMN2	Intellectual developmental disorder, autosomal recessive 47
FMR1	Fragile X syndrome Fragile X tremor/ataxia syndrome Premature ovarian failure 1	FMR1 Disorders
FN1	Glomerulopathy with fibronectin deposits 2 Spondylometaphyseal dysplasia, corner fracture type	Spondylometaphyseal Dysplasia, Corner Fracture Type
FOLR1	Neurodegeneration due to cerebral folate transport deficiency
FOXC1	Anterior segment dysgenesis 3, multiple subtypes Axenfeld-Rieger syndrome, type 3
FOXC2	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Lymphedema-distichiasis syndrome	Lymphedema-Distichiasis Syndrome
FOXE3	Anterior segment dysgenesis 2, multiple subtypes Cataract 34, multiple types	Heritable Thoracic Aortic Disease Overview
FOXF1	Alveolar capillary dysplasia with misalignment of pulmonary veins
FOXG1	Rett syndrome, congenital variant
FOXL2	Blepharophimosis, epicanthus inversus Blepharophimosis, epicanthus inversus Premature ovarian failure 3	Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
FOXN1	T-cell immunodeficiency, congenital alopecia T-cell lymphopenia, infantile
FOXP1	Mental retardation with language impairment and with or without autistic features
FOXP3	Immunodysregulation, polyendocrinopathy	IPEX Syndrome
FOXRED1	Mitochondrial complex I deficiency, nuclear type 19
FRAS1	Fraser syndrome 1
FREM1	Bifid nose with or without anorectal and renal anomalies Manitoba oculotrichoanal syndrome Trigonocephaly 2	FREM1 Autosomal Recessive Disorders
FREM2	Cryptophthalmos, unilateral or bilateral Fraser syndrome 2
FRMPD4	Intellectual developmental disorder, X-linked 104
FRRS1L	Developmental and epileptic encephalopathy 37
FTCD	Glutamate formiminotransferase deficiency
FTL	Hyperferritinemia-cataract syndrome L-ferritin deficiency, dominant and recessive Neurodegeneration with brain iron accumulation 3	Neuroferritinopathy Neurodegeneration with Brain Iron Accumulation Disorders Overview
FTSJ1	Intellectual developmental disorder, X-linked 9
FUCA1	Fucosidosis
FUT8	Congenital disorder of glycosylation with defective fucosylation 1
FXN	Friedreich ataxia with retained reflexes Friedreich ataxia	Friedreich Ataxia
G6PC	Glycogen storage disease Ia
G6PC3	Dursun syndrome Neutropenia, severe congenital 4	G6PC3 Deficiency
G6PD	Hemolytic anemia, G6PD deficient (favism)
GAA	Glycogen storage disease II	Pompe Disease
GABBR2	Developmental and epileptic encephalopathy 59 Neurodevelopmental disorder with poor language and loss of hand skills
GABRA1	Developmental and epileptic encephalopathy 19
GABRB1	Developmental and epileptic encephalopathy 45
GABRB2	Developmental and epileptic encephalopathy 92
GABRB3	Developmental and epileptic encephalopathy 43	Prader-Willi Syndrome
GABRG2	Developmental and epileptic encephalopathy 74 Febrile seizures, familial Generalized epilepsy with febrile seizures plus, type 3
GAD1	Developmental and epileptic encephalopathy 89
GALC	Krabbe disease	Krabbe Disease
GALE	Galactose epimerase deficiency	Epimerase Deficiency Galactosemia
GALK1	Galactokinase deficiency with cataracts
GALNS	Mucopolysaccharidosis IVA	Mucopolysaccharidosis Type IVA
GALT	Galactosemia	Classic Galactosemia and Clinical Variant Galactosemia Duarte Variant Galactosemia
GAMT	Cerebral creatine deficiency syndrome 2	Creatine Deficiency Disorders
GAN	Giant axonal neuropathy-1	GAN-Related Neurodegeneration
GAS8	Ciliary dyskinesia, primary
GATA1	Anemia, X-linked Leukemia, megakaryoblastic Thrombocytopenia with beta-thalassemia, X-linked Thrombocytopenia, X-linked	GATA1-Related X-Linked Cytopenia Diamond-Blackfan Anemia Congenital Erythropoietic Porphyria
GATA2	Emberger syndrome Immunodeficiency 21
GATA3	Hypoparathyroidism, sensorineural deafness
GATA4	Atrial septal defect 2 Atrioventricular septal defect 4 Tetralogy of Fallot Ventricular septal defect 1
GATA6	Atrial septal defect 9 Atrioventricular septal defect 5 Pancreatic agenesis and congenital heart defects Persistent truncus arteriosus Tetralogy of Fallot
GATAD2B	GAND syndrome
GATM	Cerebral creatine deficiency syndrome 3 Fanconi renotubular syndrome 1	Creatine Deficiency Disorders
GBA	Gaucher disease, perinatal lethal Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC	Gaucher Disease
GBA2	Spastic paraplegia 46, autosomal recessive
GBE1	Glycogen storage disease IV Polyglucosan body disease, adult form	GBE1 Adult Polyglucosan Body Disease Glycogen Storage Disease Type IV
GCDH	Glutaricaciduria, type I	Glutaric Acidemia Type I
GCH1	Dystonia, DOPA-responsive Hyperphenylalaninemia, BH4-deficient	GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
GCK	Diabetes mellitus, noninsulin-dependent Diabetes mellitus, permanent neonatal 1 Hyperinsulinemic hypoglycemia, familial MODY, type II	Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview
GDAP1	Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, recessive intermediate Charcot-Marie-Tooth disease, type 4A	GDAP1-Related Hereditary Motor and Sensory Neuropathy
GDF1	Congenital heart defects, multiple types Right atrial isomerism (Ivemark)
GDF3	Klippel-Feil syndrome 3, autosomal dominant Microphthalmia with coloboma 6 Microphthalmia, isolated 7
GDF5	Acromesomelic dysplasia 2A Acromesomelic dysplasia 2B Brachydactyly, type A1 Brachydactyly, type A2 Brachydactyly, type C Multiple synostoses syndrome 2 Symphalangism, proximal
GDF6	Klippel-Feil syndrome 1, autosomal dominant Leber congenital amaurosis 17 Microphthalmia with coloboma 6, digenic Microphthalmia, isolated 4 Multiple synostoses syndrome 4
GDI1	Intellectual developmental disorder, X-linked 41
GEMIN4	Neurodevelopmental disorder with microcephaly, cataracts
GFAP	Alexander disease	Alexander Disease
GFER	Myopathy, mitochondrial progressive
GFM1	Combined oxidative phosphorylation deficiency 1
GFM2	Combined oxidative phosphorylation deficiency 39
GFPT1	Myasthenia, congenital	Congenital Myasthenic Syndromes Overview
GHR	Growth hormone insensitivity, partial Increased responsiveness to growth hormone Laron dwarfism
GIPC3	Deafness, autosomal recessive 15
GJA1	Atrioventricular septal defect 3 Craniometaphyseal dysplasia, autosomal recessive Erythrokeratodermia variabilis et progressiva 3 Hypoplastic left heart syndrome 1 Oculodentodigital dysplasia Oculodentodigital dysplasia, autosomal recessive Palmoplantar keratoderma with congenital alopecia Syndactyly, type III
GJA5	Atrial fibrillation, familial Atrial standstill, digenic (GJA5/SCN5A)	1q21.1 Recurrent Microdeletion
GJA8	Cataract 1, multiple types	1q21.1 Recurrent Microdeletion
GJB1	Charcot-Marie-Tooth neuropathy, X-linked dominant	GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
GJB2	Bart-Pumphrey syndrome Deafness, autosomal dominant 3A Deafness, autosomal recessive 1A Hystrix-like ichthyosis with deafness Keratitis-ichthyosis-deafness syndrome Keratoderma, palmoplantar Vohwinkel syndrome	Nonsyndromic Hearing Loss and Deafness, DFNB1 Hereditary Hearing Loss and Deafness Overview Nonsyndromic Hearing Loss and Deafness, DFNA3
GJB3	Deafness, autosomal dominant 2B Deafness, autosomal dominant Deafness, autosomal recessive (3) Deafness, digenic Erythrokeratodermia variabilis et progressiva 1	Hereditary Hearing Loss and Deafness Overview
GJC2	Leukodystrophy, hypomyelinating Lymphatic malformation 3	Pelizaeus-Merzbacher-Like Disease 1
GK	Glycerol kinase deficiency	NR0B1-Related Adrenal Hypoplasia Congenita
GLA	Fabry disease Fabry disease, cardiac variant	Fabry Disease
GLB1	GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III Mucopolysaccharidosis type IVB (Morquio)	GLB1-Related Disorders
GLDC	Glycine encephalopathy	Nonketotic Hyperglycinemia
GLDN	Lethal congenital contracture syndrome 11
GLE1	Congenital arthrogryposis with anterior horn cell disease Lethal congenital contracture syndrome 1
GLI2	Culler-Jones syndrome Holoprosencephaly 9	Holoprosencephaly Overview
GLI3	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial Polydactyly, preaxial	Greig Cephalopolysyndactyly Syndrome Pallister-Hall Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview
GLIS2	Nephronophthisis 7	Nephronophthisis
GLIS3	Diabetes mellitus, neonatal
GLMN	Glomuvenous malformations
GLRA1	Hyperekplexia 1	Hereditary Hyperekplexia Overview
GLRX5	Anemia, sideroblastic Spasticity, childhood-onset
GLUD1	Hyperinsulinism-hyperammonemia syndrome	Familial Hyperinsulinism
GLUL	Glutamine deficiency, congenital
GLYCTK	D-glyceric aciduria
GM2A	GM2-gangliosidosis, AB variant
GMNN	Meier-Gorlin syndrome 6
GMPPA	Alacrima, achalasia
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C	Congenital Myasthenic Syndromes Overview
GNA11	Hypocalcemia, autosomal dominant 2 Hypocalciuric hypercalcemia, type II
GNAI3	Auriculocondylar syndrome 1
GNAO1	Developmental and epileptic encephalopathy 17 Neurodevelopmental disorder with involuntary movements
GNAQ	Capillary malformations, congenital Sturge-Weber syndrome, somatic
GNAS	ACTH-independent macronodular adrenal hyperplasia McCune-Albright syndrome, somatic Osseous heteroplasia, progressive Pituitary adenoma 3, multiple types Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Ic Pseudopseudohypoparathyroidism	Fibrous Dysplasia/McCune-Albright Syndrome Disorders of GNAS Inactivation
GNB1	Intellectual developmental disorder, autosomal dominant 42 Leukemia, acute lymphoblastic Myelodysplastic syndrome, somatic	GNB1 Encephalopathy
GNB5	Intellectual developmental disorder with cardiac arrhythmia Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia	GNB5-Related Neurodevelopmental Disorder
GNE	Nonaka myopathy Sialuria	GNE Myopathy
GNPAT	Rhizomelic chondrodysplasia punctata, type 2
GNPTAB	Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta	GNPTAB-Related Disorders
GNPTG	Mucolipidosis III Gamma
GNS	Mucopolysaccharidosis type IIID	Mucopolysaccharidosis Type III
GORAB	Geroderma osteodysplasticum
GOSR2	Epilepsy, progressive myoclonic 6
GOT2	Developmental and epileptic encephalopathy 82
GPAA1	Glycosylphosphatidylinositol biosynthesis defect 15
GPC3	Simpson-Golabi-Behmel syndrome, type 1 Wilms tumor, somatic	Simpson-Golabi-Behmel Syndrome Type 1 Wilms Tumor Predisposition
GPC6	Omodysplasia 1
GPD1L	Brugada syndrome 2	Brugada Syndrome
GPHN	Molybdenum cofactor deficiency C	Molybdenum Cofactor Deficiency
GPR143	Nystagmus 6, congenital Ocular albinism, type I
GPR56	Polymicrogyria, bilateral frontoparietal Polymicrogyria, bilateral perisylvian
GPR98	Usher syndrome, type 2C Usher syndrome, type 2C
GPSM2	Chudley-McCullough syndrome
GPT2	Neurodevelopmental disorder with microcephaly and spastic paraplegia
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type
GREB1L	Deafness, autosomal dominant 80 Renal hypodysplasia/aplasia 3
GRHL2	Corneal dystrophy, posterior polymorphous Deafness, autosomal dominant 28 Ectodermal dysplasia/short stature syndrome	Hereditary Hearing Loss and Deafness Overview
GRHL3	van der Woude syndrome 2
GRHPR	Hyperoxaluria, primary	Primary Hyperoxaluria Type 2
GRIA2	Neurodevelopmental disorder with language impairment and behavioral abnormalities
GRIA3	Intellectual developmental disorder, X-linked
GRID2	Spinocerebellar ataxia, autosomal recessive 18
GRIK2	Intellectual developmental disorder, autosomal recessive 6 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GRIN1	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	GRIN1-Related Neurodevelopmental Disorder
GRIN2A	Epilepsy, focal	GRIN2A-Related Speech Disorders and Epilepsy
GRIN2B	Developmental and epileptic encephalopathy 27 Intellectual developmental disorder, autosomal dominant 6	GRIN2B-Related Neurodevelopmental Disorder
GRIN2D	Developmental and epileptic encephalopathy 46
GRIP1	Fraser syndrome 3
GRM1	Spinocerebellar ataxia 44 Spinocerebellar ataxia, autosomal recessive 13
GRM7	Neurodevelopmental disorder with seizures, hypotonia
GSS	Glutathione synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency
GTF2H5	Trichothiodystrophy 3, photosensitive
GTPBP3	Combined oxidative phosphorylation deficiency 23
GUCY2C	Diarrhea 6 Meconium ileus
GUF1
GUSB	Mucopolysaccharidosis VII
GYS1	Glycogen storage disease 0, muscle
GYS2	Glycogen storage disease 0, liver
GZF1	Joint laxity, short stature
H1-4	HIST1H1E Syndrome
H19	Wilms Tumor Predisposition	Silver-Russell Syndrome Beckwith-Wiedemann Syndrome
HACE1	Spastic paraplegia and psychomotor retardation with or without seizures
HADH	Familial Hyperinsulinism
HADHA	Fatty liver, acute HELLP syndrome, maternal LCHAD deficiency Mitochondrial trifunctional protein deficiency
HADHB	Trifunctional protein deficiency
HARS1	Charcot-Marie-Tooth disease, axonal Usher syndrome type 3B	Charcot-Marie-Tooth Hereditary Neuropathy Overview
HAX1	Neutropenia, severe congenital 3
HBA1	Erythrocytosis 7 Heinz body anemias, alpha- Hemoglobin H disease, nondeletional Methemoglobinemia, alpha type Thalassemias, alpha-	Alpha-Thalassemia
HBA2	Erythrocytosis 7 Heinz body anemia Hemoglobin H disease, deletional and nondeletional Thalassemia, alpha-	Alpha-Thalassemia
HBB	Delta-beta thalassemia Erythrocytosis 6 Heinz body anemia Hereditary persistence of fetal hemoglobin Methemoglobinemia, beta type Sickle cell anemia Thalassemia, beta Thalassemia-beta, dominant inclusion-body	Sickle Cell Disease Beta-Thalassemia
HCCS	Linear skin defects with multiple congenital anomalies 1	Microphthalmia with Linear Skin Defects Syndrome
HCFC1	Methylmalonic aciduria and homocysteinemia, cblX type	Disorders of Intracellular Cobalamin Metabolism
HCN1	Developmental and epileptic encephalopathy 24 Generalized epilepsy with febrile seizures plus, type 10
HDAC4
HDAC8	Cornelia de Lange syndrome 5	Cornelia de Lange Syndrome
HECW2	Neurodevelopmental disorder with hypotonia, seizures
HEPACAM	Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting	Megalencephalic Leukoencephalopathy with Subcortical Cysts
HERC2	Intellectual developmental disorder, autosomal recessive 38	Prader-Willi Syndrome
HESX1	Growth hormone deficiency with pituitary anomalies Pituitary hormone deficiency, combined Septooptic dysplasia
HEXA	GM2-gangliosidosis, several forms Tay-Sachs disease	HEXA Disorders
HEXB	Sandhoff disease, infantile
HFE	Hemochromatosis	HFE Hemochromatosis
HGD	Alkaptonuria	Alkaptonuria
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C) Retinitis pigmentosa 73	Mucopolysaccharidosis Type III
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive	Charcot-Marie-Tooth Hereditary Neuropathy Overview
HIVEP2	Mental retardation, autosomal dominant 43
HK1	Hemolytic anemia due to hexokinase deficiency Neurodevelopmental disorder with visual defects and brain anomalies Neuropathy, hereditary motor and sensory Retinitis pigmentosa 79
HLCS	Holocarboxylase synthetase deficiency
HMGCL	HMG-CoA lyase deficiency
HMGCS2	HMG-CoA synthase-2 deficiency
HMX1	Oculoauricular syndrome
HNF1A	Diabetes mellitus, insulin-dependent Hepatic adenoma, somatic MODY, type III Renal cell carcinoma	Maturity-Onset Diabetes of the Young Overview
HNF1B	Renal cysts and diabetes syndrome Type 2 diabetes mellitus	17q12 Recurrent Deletion Syndrome Maturity-Onset Diabetes of the Young Overview
HNF4A	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MODY, type I	Familial Hyperinsulinism Maturity-Onset Diabetes of the Young Overview
HNRNPH2	Intellectual developmental disorder, X-linked
HNRNPK	Au-Kline syndrome	Au-Kline Syndrome
HNRNPU	Developmental and epileptic encephalopathy 54	HNRNPU-Related Neurodevelopmental Disorder
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
HOXA13	Hand-foot-uterus syndrome	Hand-Foot-Genital Syndrome
HOXC13	Ectodermal dysplasia 9, hair/nail type
HOXD13	Brachydactyly, type D Brachydactyly, type E Syndactyly, type V Synpolydactyly 1
HPD	Hawkinsinuria Tyrosinemia, type III
HPDL	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Spastic paraplegia 83, autosomal recessive
HPGD	Cranioosteoarthropathy Hypertrophic osteoarthropathy, primary
HPRT1	Hyperuricemia, HRPT-related Lesch-Nyhan syndrome	HPRT1 Disorders
HPS1	Hermansky-Pudlak syndrome 1	Hermansky-Pudlak Syndrome
HPS3	Hermansky-Pudlak syndrome 3	Hermansky-Pudlak Syndrome
HPS4	Hermansky-Pudlak syndrome 4	Hermansky-Pudlak Syndrome
HPS5	Hermansky-Pudlak syndrome 5	Hermansky-Pudlak Syndrome
HPSE2	Urofacial syndrome 1	Urofacial Syndrome
HRAS	Bladder cancer, somatic Congenital myopathy with excess of muscle spindles Costello syndrome Nevus sebaceous or woolly hair nevus, somatic Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic Spitz nevus or nevus spilus, somatic Thyroid carcinoma, follicular	Costello Syndrome
HSD11B2	Apparent mineralocorticoid excess
HSD17B10	HSD10 mitochondrial disease
HSD17B3	Pseudohermaphroditism, male
HSD17B4	D-bifunctional protein deficiency Perrault syndrome 1	Perrault Syndrome
HSD3B2	Adrenal hyperplasia, congenital
HSD3B7	Bile acid synthesis defect, congenital
HSPA9	Anemia, sideroblastic Even-plus syndrome
HSPB8	Charcot-Marie-Tooth disease, axonal Neuronopathy, distal hereditary motor	Charcot-Marie-Tooth Hereditary Neuropathy Overview
HSPD1	Leukodystrophy, hypomyelinating Spastic paraplegia 13, autosomal dominant
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type Schwartz-Jampel syndrome, type 1
HTRA1	CARASIL syndrome Cerebral arteriopathy, autosomal dominant	HTRA1 Disorder
HUWE1	Intellectual developmental disorder, X-linked
HYAL1
HYDIN	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
HYLS1	Hydrolethalus syndrome
IARS1	Growth retardation, impaired intellectual development
IARS2	Cataracts, growth hormone deficiency
IBA57	Multiple mitochondrial dysfunctions syndrome 3
ICOS	Immunodeficiency, common variable
IDS	Mucopolysaccharidosis II	Mucopolysaccharidosis Type II
IDUA	Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Is	Mucopolysaccharidosis Type I
IER3IP1	Microcephaly, epilepsy
IFIH1	Aicardi-Goutieres syndrome 7 Singleton-Merten syndrome 1	Aicardi-Goutieres Syndrome
IFITM5	Osteogenesis imperfecta, type V
IFNGR2	Immunodeficiency 28, mycobacteriosis
IFT122	Cranioectodermal dysplasia 1	Cranioectodermal Dysplasia
IFT140	Retinitis pigmentosa 80 Short-rib thoracic dysplasia 9 with or without polydactyly	Cranioectodermal Dysplasia
IFT172	Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly	Joubert Syndrome Nephronophthisis
IFT27	Bardet-Biedl syndrome 19	Bardet-Biedl Syndrome Overview
IFT43	Short-rib thoracic dysplasia 18 with polydactyly	Cranioectodermal Dysplasia
IFT80	Short-rib thoracic dysplasia 2 with or without polydactyly
IGF1	Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1R	Insulin-like growth factor I, resistance to
IGF2	Silver-Russell syndrome 3	Wilms Tumor Predisposition Silver-Russell Syndrome Beckwith-Wiedemann Syndrome
IGFBP7	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
IGHMBP2	Charcot-Marie-Tooth disease, axonal Neuronopathy, distal hereditary motor	Charcot-Marie-Tooth Hereditary Neuropathy Overview
IGSF1	Hypothyroidism, central
IHH	Acrocapitofemoral dysplasia Brachydactyly, type A1
IKBKAP	Dysautonomia, familial Medulloblastoma
IKBKB	Immunodeficiency 15A Immunodeficiency 15B
IKBKG	Ectodermal dysplasia and immunodeficiency 1 Immunodeficiency 33 Incontinentia pigmenti	Incontinentia Pigmenti
IL10RA	Inflammatory bowel disease 28, early onset
IL11RA	Craniosynostosis and dental anomalies
IL12RB1	Immunodeficiency 30
IL1RAPL1	Intellectual developmental disorder, X-linked 21	NR0B1-Related Adrenal Hypoplasia Congenita
IL21R	Immunodeficiency 56
IL2RA	Immunodeficiency 41 with lymphoproliferation and autoimmunity
IL2RG	Combined immunodeficiency, X-linked Severe combined immunodeficiency, X-linked	X-Linked Severe Combined Immunodeficiency
IL7R	Severe combined immunodeficiency, T-cell negative
ILDR1	Deafness, autosomal recessive 42
INPP5E	Joubert syndrome 1 Mental retardation, truncal obesity	Joubert Syndrome
INPP5K	Muscular dystrophy, congenital
INPPL1	Opsismodysplasia
INS	Diabetes mellitus, insulin-dependent Diabetes mellitus, permanent neonatal 4 Hyperproinsulinemia Maturity-onset diabetes of the young, type 10	Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview
INSR	Diabetes mellitus, insulin-resistant Hyperinsulinemic hypoglycemia, familial Leprechaunism Rabson-Mendenhall syndrome	INSR-Related Severe Syndromic Insulin Resistance
INVS	Nephronophthisis 2, infantile	Nephronophthisis
IQCB1	Senior-Loken syndrome 5	Nephronophthisis
IQSEC1	Intellectual developmental disorder with short stature and behavioral abnormalities
IQSEC2	Intellectual developmental disorder, X-linked 1
IRAK4	Immunodeficiency 67
IRF6	Popliteal pterygium syndrome 1 van der Woude syndrome 1	IRF6-Related Disorders
IRF8	Immunodeficiency 32A, mycobacteriosis Immunodeficiency 32B, monocyte and dendritic cell deficiency
IRX5	Hamamy syndrome
ISCA2	Multiple mitochondrial dysfunctions syndrome 4	ISCA2-Related Mitochondrial Disorder
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
ITFG2
ITGA3	Interstitial lung disease, nephrotic syndrome
ITGA6	Epidermolysis bullosa, junctional	Epidermolysis Bullosa with Pyloric Atresia
ITGA7	Muscular dystrophy, congenital
ITGA8	Renal hypodysplasia/aplasia 1
ITGB4	Epidermolysis bullosa of hands and feet Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional	Junctional Epidermolysis Bullosa Epidermolysis Bullosa with Pyloric Atresia
ITK	Lymphoproliferative syndrome 1
ITPA	Developmental and epileptic encephalopathy 35
ITPR1	Gillespie syndrome Spinocerebellar ataxia 15 Spinocerebellar ataxia 29, congenital nonprogressive	Spinocerebellar Ataxia Type 15
IVD	Isovaleric acidemia
JAG1	Alagille syndrome 1 Charcot-Marie-Tooth disease, axonal Tetralogy of Fallot	Alagille Syndrome
JAGN1	Neutropenia, severe congenital
JAK3	SCID, autosomal recessive
JAM2	Basal ganglia calcification, idiopathic
JAM3	Hemorrhagic destruction of the brain, subependymal calcification
JUP	Naxos disease	Arrhythmogenic Right Ventricular Cardiomyopathy
KANK1	Cerebral palsy, spastic quadriplegic
KANSL1	Koolen-De Vries syndrome	Koolen-de Vries Syndrome
KARS1	Deafness, autosomal recessive 89 Deafness, congenital Leukoencephalopathy, progressive
KAT5	Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance
KAT6A	Arboleda-Tham syndrome
KAT6B	Genitopatellar syndrome SBBYSS syndrome	KAT6B Disorders
KAT8	Li-Ghorgani-Weisz-Hubshman syndrome
KATNB1	Lissencephaly 6, with microcephaly
KBTBD13	Nemaline myopathy 6, autosomal dominant
KCNA1	Episodic ataxia/myokymia syndrome	Episodic Ataxia Type 1
KCNA2	Developmental and epileptic encephalopathy 32
KCNA5	Atrial fibrillation, familial
KCNB1	Developmental and epileptic encephalopathy 26
KCNC1	Epilepsy, progressive myoclonic 7
KCNC3	Spinocerebellar ataxia 13	Spinocerebellar Ataxia Type 13
KCNE1	Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5	Long QT Syndrome Jervell and Lange-Nielsen Syndrome
KCNE2	Atrial fibrillation, familial Long QT syndrome 6	Long QT Syndrome
KCNH1	Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
KCNH2	Long QT syndrome 2 Short QT syndrome 1	Long QT Syndrome Brugada Syndrome
KCNJ1	Bartter syndrome, type 2
KCNJ10	Enlarged vestibular aqueduct, digenic SESAME syndrome	Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
KCNJ11	Diabetes mellitus, transient neonatal 3 Diabetes, permanent neonatal 2 Hyperinsulinemic hypoglycemia, familial Maturity-onset diabetes of the young, type 13	Familial Hyperinsulinism Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview
KCNJ2	Andersen syndrome Atrial fibrillation, familial Short QT syndrome 3	Long QT Syndrome Andersen-Tawil Syndrome
KCNJ6	Keppen-Lubinsky syndrome
KCNMA1	Cerebellar atrophy, developmental delay Liang-Wang syndrome Paroxysmal nonkinesigenic dyskinesia
KCNQ1	Atrial fibrillation, familial Jervell and Lange-Nielsen syndrome Long QT syndrome 1 Short QT syndrome 2	Long QT Syndrome Beckwith-Wiedemann Syndrome Jervell and Lange-Nielsen Syndrome
KCNQ2	Developmental and epileptic encephalopathy 7 Myokymia Seizures, benign neonatal	KCNQ2-Related Disorders
KCNQ3	Seizures, benign neonatal	KCNQ3-Related Disorders
KCNQ4	Deafness, autosomal dominant 2A	DFNA2 Nonsyndromic Hearing Loss Hereditary Hearing Loss and Deafness Overview
KCNQ5	Mental retardation, autosomal dominant 46
KCNT1	Developmental and epileptic encephalopathy 14 Epilepsy nocturnal frontal lobe	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy KCNT1-Related Epilepsy
KCTD1	Scalp-ear-nipple syndrome
KCTD7	Epilepsy, progressive myoclonic 3
KDM5C	Intellectual developmental disorder, X-linked syndromic
KDM6A	Kabuki syndrome 2	Kabuki Syndrome
KIAA0586	Joubert syndrome 23 Short-rib thoracic dysplasia 14 with polydactyly	Joubert Syndrome
KIAA1109	Alkuraya-Kucinskas syndrome
KIDINS220	Spastic paraplegia, intellectual disability Ventriculomegaly and arthrogryposis
KIF11	Microcephaly with or without chorioretinopathy, lymphedema
KIF1A	NESCAV syndrome Neuropathy, hereditary sensory Spastic paraplegia 30, autosomal dominant Spastic paraplegia 30, autosomal recessive	Hereditary Sensory and Autonomic Neuropathy Type II
KIF1C	Spastic ataxia 2, autosomal recessive
KIF21A	Fibrosis of extraocular muscles, congenital Fibrosis of extraocular muscles, congenital	Congenital Fibrosis of the Extraocular Muscles Overview
KIF22	Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIF2A	Cortical dysplasia, complex
KIF5C	Cortical dysplasia, complex
KIF7	Acrocallosal syndrome Joubert syndrome 12	Joubert Syndrome
KIFBP	Goldberg-Shprintzen megacolon syndrome
KIRREL3
KIT	Gastrointestinal stromal tumor, familial Germ cell tumors, somatic Leukemia, acute myeloid Mastocytosis, cutaneous Mastocytosis, systemic Piebaldism
KLF1	Blood group--Lutheran inhibitor Dyserythropoietic anemia, congenital
KLHL15	Intellectual developmental disorder, X-linked 103
KLHL40	Nemaline myopathy 8, autosomal recessive
KLHL41	Nemaline myopathy 9
KLHL7	PERCHING syndrome Retinitis pigmentosa 42	Nonsyndromic Retinitis Pigmentosa Overview
KMT2A	Wiedemann-Steiner syndrome
KMT2B	Dystonia 28, childhood-onset	KMT2B-Related Dystonia
KMT2C	Kleefstra syndrome 2
KMT2D	Kabuki syndrome 1	Kabuki Syndrome
KMT2E	O'Donnell-Luria-Rodan syndrome
KMT5B	Mental retardation, autosomal dominant 51
KNL1	Microcephaly 4, primary
KPTN	Mental retardation, autosomal recessive 41
KRAS	Arteriovenous malformation of the brain, somatic Bladder cancer, somatic Breast cancer, somatic Cardiofaciocutaneous syndrome 2 Gastric cancer, somatic Leukemia, acute myeloid Lung cancer, somatic Noonan syndrome 3 Oculoectodermal syndrome, somatic Pancreatic carcinoma, somatic RAS-associated autoimmune leukoproliferative disorder Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	Noonan Syndrome Cardiofaciocutaneous Syndrome Encephalocraniocutaneous Lipomatosis
KRIT1	Cavernous malformations of CNS and retina Cerebral cavernous malformations-1 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	Cerebral Cavernous Malformation, Famiilial
KRT10	Epidermolytic hyperkeratosis Ichthyosis with confetti Ichthyosis, cyclic
KRT14	Dermatopathia pigmentosa reticularis Epidermolysis bullosa simplex 1A, generalized severe Epidermolysis bullosa simplex 1B, generalized intermediate Epidermolysis bullosa simplex 1C, localized Epidermolysis bullosa simplex 1D, generalized Naegeli-Franceschetti-Jadassohn syndrome	Epidermolysis Bullosa Simplex
KRT16	Pachyonychia congenita 1 Palmoplantar keratoderma, nonepidermolytic	Pachyonychia Congenita
KRT17	Pachyonychia congenita 2 Steatocystoma multiplex	Pachyonychia Congenita
KRT5	Dowling-Degos disease 1 Epidermolysis bullosa simplex 2A, generalized severe Epidermolysis bullosa simplex 2B, generalized intermediate Epidermolysis bullosa simplex 2C, localized Epidermolysis bullosa simplex 2D, generalized Epidermolysis bullosa simplex 2E, with migratory circinate erythema Epidermolysis bullosa simplex 2F, with mottled pigmentation	Epidermolysis Bullosa Simplex
KRT6A	Pachyonychia congenita 3	Pachyonychia Congenita
KRT8	Cirrhosis, cryptogenic
L1CAM	CRASH syndrome Corpus callosum, partial agenesis of Hydrocephalus due to aqueductal stenosis Hydrocephalus with Hirschsprung disease Hydrocephalus with congenital idiopathic intestinal pseudoobstruction MASA syndrome	L1 Syndrome
L2HGDH	L-2-hydroxyglutaric aciduria
LAMA1	Poretti-Boltshauser syndrome
LAMA2	Muscular dystrophy, congenital Muscular dystrophy, limb-girdle	LAMA2 Muscular Dystrophy
LAMA3	Cardiomyopathy, dilated Epidermolysis bullosa, generalized atrophic benign Epidermolysis bullosa, junctional Laryngoonychocutaneous syndrome	Junctional Epidermolysis Bullosa
LAMB1	Lissencephaly 5
LAMB2	Nephrotic syndrome, type 5 Pierson syndrome	Congenital Myasthenic Syndromes Overview
LAMB3	Amelogenesis imperfecta, type IA Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional	Junctional Epidermolysis Bullosa
LAMC2	Epidermolysis bullosa, junctional Epidermolysis bullosa, junctional	Junctional Epidermolysis Bullosa
LAMC3	Cortical malformations, occipital
LAMP2	Danon disease	Danon Disease
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B
LARGE1
LARP7	Alazami syndrome
LARS2	Hydrops, lactic acidosis Perrault syndrome 4	Perrault Syndrome
LAS1L	Wilson-Turner syndrome
LBR	Greenberg skeletal dysplasia Pelger-Huet anomaly with mild skeletal anomalies Pelger-Huet anomaly
LDB3	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 3 Myopathy, myofibrillar	Dilated Cardiomyopathy Overview
LDLR	Hypercholesterolemia, familial LDL cholesterol level QTL2	Familial Hypercholesterolemia
LEMD3	Buschke-Ollendorff syndrome Osteopoikilosis with or without melorheostosis
LEPR	Obesity, morbid
LETM1
LFNG	Spondylocostal dysostosis 3, autosomal recessive	Spondylocostal Dysostosis, Autosomal Recessive
LGI4	Arthrogryposis multiplex congenita 1, neurogenic
LHFPL5	Deafness, autosomal recessive 67	Hereditary Hearing Loss and Deafness Overview
LHX3	Pituitary hormone deficiency, combined
LHX4	Pituitary hormone deficiency, combined
LIAS	Hyperglycinemia, lactic acidosis
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
LIG4	LIG4 syndrome
LINS1	Intellectual developmental disorder, autosomal recessive 27
LIPA	Cholesteryl ester storage disease Wolman disease	Lysosomal Acid Lipase Deficiency
LIPT1	Lipoyltransferase 1 deficiency
LITAF	Charcot-Marie-Tooth disease, type 1C	Charcot-Marie-Tooth Hereditary Neuropathy Overview
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	Disorders of Intracellular Cobalamin Metabolism
LMNA	Cardiomyopathy, dilated Charcot-Marie-Tooth disease, type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy 3, autosomal recessive Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria Lipodystrophy, familial partial Malouf syndrome Mandibuloacral dysplasia Muscular dystrophy, congenital Restrictive dermopathy, lethal	Hutchinson-Gilford Progeria Syndrome Dilated Cardiomyopathy Overview Charcot-Marie-Tooth Hereditary Neuropathy Overview Emery-Dreifuss Muscular Dystrophy LMNA-Related Dilated Cardiomyopathy
LMOD3	Nemaline myopathy 10
LMX1B	Focal segmental glomerulosclerosis 10 Nail-patella syndrome	Nail-Patella Syndrome
LONP1	CODAS syndrome
LOXHD1	Deafness, autosomal recessive 77	Hereditary Hearing Loss and Deafness Overview
LPIN2	Majeed syndrome
LRBA	Immunodeficiency, common variable
LRP2	Donnai-Barrow syndrome	Donnai-Barrow Syndrome
LRP4	Cenani-Lenz syndactyly syndrome Sclerosteosis 2	Congenital Myasthenic Syndromes Overview
LRP5	Exudative vitreoretinopathy 4 Hyperostosis, endosteal Osteopetrosis, autosomal dominant 1 Osteoporosis-pseudoglioma syndrome Osteosclerosis Polycystic liver disease 4 with or without kidney cysts van Buchem disease, type 2
LRPPRC	Mitochondrial complex IV deficiency, nuclear type 5
LRRC56	Ciliary dyskinesia, primary
LRRC6	Ciliary dyskinesia, primary
LRSAM1	Charcot-Marie-Tooth disease, axonal	Charcot-Marie-Tooth Hereditary Neuropathy Overview
LRTOMT	Deafness, autosomal recessive 63	Hereditary Hearing Loss and Deafness Overview
LTBP2	Dental anomalies and short stature Geleophysic dysplasia 3 Glaucoma 3, primary congenital Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Weill-Marchesani Syndrome Primary Congenital Glaucoma
LTBP3	Dental anomalies and short stature Geleophysic dysplasia 3 Glaucoma 3, primary congenital Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Geleophysic Dysplasia
LTBP4	Cutis laxa, autosomal recessive	LTBP4-Related Cutis Laxa
LYRM7	Mitochondrial complex III deficiency, nuclear type 8
LYST	Chediak-Higashi syndrome	Chediak-Higashi Syndrome
LZTFL1	Bardet-Biedl syndrome 17	Bardet-Biedl Syndrome Overview
LZTR1	Noonan syndrome 10 Noonan syndrome 2	Noonan Syndrome Schwannomatosis
MAB21L2	Microphthalmia/coloboma and skeletal dysplasia syndrome
MACF1	Lissencephaly 9 with complex brainstem malformation
MAF	Ayme-Gripp syndrome Cataract 21, multiple types	Ayme-Gripp Syndrome
MAFB	Duane retraction syndrome 3 Multicentric carpotarsal osteolysis syndrome	Duane Syndrome
MAG	Spastic paraplegia 75, autosomal recessive
MAGEL2	Schaaf-Yang syndrome	Prader-Willi Syndrome Schaaf-Yang Syndrome
MAGI2	Nephrotic syndrome, type 15
MAGT1	Congenital disorder of glycosylation, type Icc Immunodeficiency, X-linked	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
MALT1	Immunodeficiency 12
MAMLD1	Hypospadias 2, X-linked
MAN1B1	Rafiq syndrome
MAN2B1	Mannosidosis, alpha-	Alpha-Mannosidosis
MANBA	Mannosidosis, beta
MAOA	Brunner syndrome
MAP1B	Periventricular nodular heterotopia 9
MAP2K1	Cardiofaciocutaneous syndrome 3 Melorheostosis, isolated	Noonan Syndrome Cardiofaciocutaneous Syndrome Noonan Syndrome with Multiple Lentigines
MAP2K2	Cardiofaciocutaneous syndrome 4	Cardiofaciocutaneous Syndrome
MAP3K1	46XY sex reversal 6	Nonsyndromic Disorders of Testicular Development
MAP3K7	Cardiospondylocarpofacial syndrome Frontometaphyseal dysplasia 2
MAPK8IP3	Neurodevelopmental disorder with or without variable brain abnormalities
MAPRE2	Symmetric circumferential skin creases, congenital
MARS1	Charcot-Marie-Tooth disease, axonal Interstitial lung and liver disease	Charcot-Marie-Tooth Hereditary Neuropathy Overview
MARVELD2	Deafness, autosomal recessive 49	Hereditary Hearing Loss and Deafness Overview
MASP1	3MC syndrome 1
MAT1A	Hypermethioninemia, persistent Methionine adenosyltransferase deficiency, autosomal recessive
MATN3	Epiphyseal dysplasia, multiple Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type	Multiple Epiphyseal Dysplasia, Dominant
MAX	Hereditary Paraganglioma-Pheochromocytoma Syndromes
MBD5	Mental retardation, autosomal dominant 1	MBD5 Haploinsufficiency
MBOAT7	Intellectual developmental disorder, autosomal recessive 57
MBTPS2	IFAP syndrome with or without BRESHECK syndrome Keratosis follicularis spinulosa decalvans, X-linked Osteogenesis imperfecta, type XIX
MC2R	Glucocorticoid deficiency, due to ACTH unresponsiveness
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency
MCEE	Methylmalonyl-CoA epimerase deficiency	Isolated Methylmalonic Acidemia
MCFD2	Factor V and factor VIII, combined deficiency of
MCOLN1	Mucolipidosis IV	Mucolipidosis IV
MCPH1	Microcephaly 1, primary
MDH2	Developmental and epileptic encephalopathy 51
MECOM	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MECP2	Encephalopathy, neonatal severe Intellectual developmental disorder, X-linked syndromic Intellectual developmental disorder, X-linked Rett syndrome Rett syndrome, atypical Rett syndrome, preserved speech variant	MECP2 Duplication Syndrome MECP2 Disorders
MECR	Dystonia, childhood-onset	MECR-Related Neurologic Disorder
MED12	Hardikar syndrome Lujan-Fryns syndrome Ohdo syndrome, X-linked Opitz-Kaveggia syndrome	MED12-Related Disorders
MED13	Intellectual developmental disorder 61
MED13L	Impaired intellectual development and distinctive facial features with or without cardiac defects
MED17	Microcephaly, postnatal progressive
MED23	Intellectual developmental disorder, autosomal recessive 18
MED25	Basel-Vanagait-Smirin-Yosef syndrome	Charcot-Marie-Tooth Hereditary Neuropathy Overview
MEF2C	Chromosome 5q14.3 deletion syndrome Neurodevelopmental disorder with hypotonia, stereotypic hand movements
MEFV	Familial Mediterranean fever, AD Familial Mediterranean fever, AR Neutrophilic dermatosis, acute febrile	Familial Mediterranean Fever
MEGF10	Myopathy, areflexia Myopathy, areflexia
MEGF8	Carpenter syndrome 2
MEIS2	Cleft palate, cardiac defects
MEN1	Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1 Parathyroid adenoma, somatic (3)	Multiple Endocrine Neoplasia Type 1
MEOX1	Klippel-Feil syndrome 2
MESP2	Spondylocostal dysostosis 2, autosomal recessive	Spondylocostal Dysostosis, Autosomal Recessive
METTL5	Intellectual developmental disorder, autosomal recessive 72
MFN2	Charcot-Marie-Tooth disease, axonal Charcot-Marie-Tooth disease, axonal Hereditary motor and sensory neuropathy VIA	MFN2 Hereditary Motor and Sensory Neuropathy
MFRP	Microphthalmia, isolated 5 Nanophthalmos 2
MFSD2A	Neurodevelopmental disorder with progressive microcephaly, spasticity
MFSD8	Ceroid lipofuscinosis, neuronal Macular dystrophy with central cone involvement
MGAT2	Congenital disorder of glycosylation, type IIa	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
MGME1	Mitochondrial DNA depletion syndrome 11
MGP	Keutel syndrome
MICU1	Myopathy with extrapyramidal signs
MID1	Opitz GBBB syndrome, type I	X-Linked Opitz G/BBB Syndrome Esophageal Atresia/Tracheoesophageal Fistula Overview
MIPEP	Combined oxidative phosphorylation deficiency 31
MIR17HG
MITF	COMMAD syndrome Tietz albinism-deafness syndrome Waardenburg syndrome, type 2A Waardenburg syndrome/ocular albinism, digenic
MKKS	Bardet-Biedl syndrome 6 McKusick-Kaufman syndrome	Bardet-Biedl Syndrome Overview McKusick-Kaufman Syndrome
MKS1	Bardet-Biedl syndrome 13 Joubert syndrome 28 Meckel syndrome 1	Joubert Syndrome Bardet-Biedl Syndrome Overview
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	Megalencephalic Leukoencephalopathy with Subcortical Cysts
MLH1	Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 1 Muir-Torre syndrome	Lynch Syndrome
MLPH	Griscelli syndrome, type 3
MLYCD	Malonyl-CoA decarboxylase deficiency
MMAA	Methylmalonic aciduria, vitamin B12-responsive	Isolated Methylmalonic Acidemia
MMAB	Methylmalonic aciduria, vitamin B12-responsive	Isolated Methylmalonic Acidemia
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	Disorders of Intracellular Cobalamin Metabolism
MMADHC	Homocystinuria, cblD type Methylmalonic aciduria and homocystinuria, cblD type Methylmalonic aciduria, cblD type	Isolated Methylmalonic Acidemia Disorders of Intracellular Cobalamin Metabolism
MMP13	Metaphyseal anadysplasia 1 Metaphyseal dysplasia, Spahr type
MMP21	Heterotaxy, visceral
MMUT	Methylmalonic aciduria, mut(0) type	Isolated Methylmalonic Acidemia
MN1	CEBALID syndrome Meningioma	MN1 C-Terminal Truncation Syndrome
MNX1	Currarino syndrome
MOCS1	Molybdenum cofactor deficiency A	Molybdenum Cofactor Deficiency
MOCS2	Molybdenum cofactor deficiency B	Molybdenum Cofactor Deficiency
MOGS	Congenital disorder of glycosylation, type IIb	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
MORC2	Charcot-Marie-Tooth disease, axonal Developmental delay, impaired growth	Charcot-Marie-Tooth Hereditary Neuropathy Overview
MPDU1	Congenital disorder of glycosylation, type If
MPDZ	Hydrocephalus, congenital
MPI	Congenital disorder of glycosylation, type Ib	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
MPL	Myelofibrosis with myeloid metaplasia, somatic Thrombocythemia 2 Thrombocytopenia, congenital amegakaryocytic
MPLKIP	Trichothiodystrophy 4, nonphotosensitive
MPV17	Charcot-Marie-Tooth disease, axonal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Charcot-Marie-Tooth Hereditary Neuropathy Overview MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
MPZ	Charcot-Marie-Tooth disease, dominant intermediate D Charcot-Marie-Tooth disease, type 1B Charcot-Marie-Tooth disease, type 2I Charcot-Marie-Tooth disease, type 2J Dejerine-Sottas disease Hypomyelinating neuropathy, congenital Roussy-Levy syndrome
MRPL3	Combined oxidative phosphorylation deficiency 9
MRPL44	Combined oxidative phosphorylation deficiency 16
MRPS2	Combined oxidative phosphorylation deficiency 36
MRPS22	Combined oxidative phosphorylation deficiency 5 Ovarian dysgenesis 7
MRPS34	Combined oxidative phosphorylation deficiency 32
MSH2	Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 2 Muir-Torre syndrome	Lynch Syndrome
MSH6	Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 3	Lynch Syndrome
MSL3	Basilicata-Akhtar syndrome
MSMO1	Microcephaly, congenital cataract
MSX1	Ectodermal dysplasia 3, Witkop type Orofacial cleft 5 Tooth agenesis, selective
MSX2	Craniosynostosis 2 Parietal foramina 1 Parietal foramina with cleidocranial dysplasia	Enlarged Parietal Foramina
MTFMT	Combined oxidative phosphorylation deficiency 15 Mitochondrial complex I deficiency, nuclear type 27	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
MTHFR	Homocystinuria due to MTHFR deficiency
MTM1	Myotubular myopathy, X-linked	X-Linked Myotubular Myopathy
MTO1	Combined oxidative phosphorylation deficiency 10
MTOR	Focal cortical dysplasia, type II Smith-Kingsmore syndrome
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type	Disorders of Intracellular Cobalamin Metabolism
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	Disorders of Intracellular Cobalamin Metabolism
MTTP	Abetalipoproteinemia	Abetalipoproteinemia
MUSK	Fetal akinesia deformation sequence 1 Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
MUT	Methylmalonic aciduria, mut(0) type
MUTYH	Adenomas, multiple colorectal Gastric cancer, somatic	MUTYH Polyposis
MVK	Hyper-IgD syndrome Mevalonic aciduria Porokeratosis 3, multiple types
MYBPC1	Arthrogryposis, distal Lethal congenital contracture syndrome 4 Myopathy, congenital
MYBPC3	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 10	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
MYCN	Feingold syndrome 1	Esophageal Atresia/Tracheoesophageal Fistula Overview Feingold Syndrome 1
MYD88	Immunodeficiency 68 Macroglobulinemia, Waldenstrom
MYH11	Aortic aneurysm, familial thoracic 4 Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 Visceral myopathy 2	Heritable Thoracic Aortic Disease Overview
MYH14	Deafness, autosomal dominant 4A	Hereditary Hearing Loss and Deafness Overview
MYH2	Proximal myopathy and ophthalmoplegia
MYH3	Arthrogryposis, distal Arthrogryposis, distal Contractures, pterygia Contractures, pterygia
MYH6	Atrial septal defect 3 Cardiomyopathy, dilated Cardiomyopathy, hypertrophic	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
MYH7	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Laing distal myopathy Left ventricular noncompaction 5 Myopathy, myosin storage Myopathy, myosin storage Scapuloperoneal syndrome, myopathic type	Laing Distal Myopathy Hypertrophic Cardiomyopathy Overview
MYH8	Carney complex variant Trismus-pseudocamptodactyly syndrome
MYH9	Deafness, autosomal dominant 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Hereditary Hearing Loss and Deafness Overview MYH9-Related Disease
MYL2	Cardiomyopathy, hypertrophic Myopathy, myofibrillar	Hypertrophic Cardiomyopathy Overview
MYL3	Cardiomyopathy, hypertrophic	Hypertrophic Cardiomyopathy Overview
MYLK	Aortic aneurysm, familial thoracic 7 Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Heritable Thoracic Aortic Disease Overview
MYO15A	Deafness, autosomal recessive 3	Hereditary Hearing Loss and Deafness Overview
MYO18B	Klippel-Feil syndrome 4, autosomal recessive
MYO3A	Deafness, autosomal recessive 30	Hereditary Hearing Loss and Deafness Overview
MYO5A	Griscelli syndrome, type 1
MYO5B	Diarrhea 2, with microvillus atrophy
MYO6	Deafness, autosomal dominant 22 Deafness, autosomal dominant 22 Deafness, autosomal recessive 37	Hereditary Hearing Loss and Deafness Overview
MYO7A	Deafness, autosomal dominant 11 Deafness, autosomal recessive 2 Usher syndrome, type 1B	Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview
MYOD1	Myopathy, congenital
MYPN	Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic Nemaline myopathy 11, autosomal recessive
MYT1L	Intellectual developmental disorder, autosomal dominant 39
NAA10	Microphthalmia, syndromic 1 Ogden syndrome
NAA15	Intellectual developmental disorder, autosomal dominant 50
NACC1	Neurodevelopmental disorder with epilepsy, cataracts
NADSYN1	Vertebral, cardiac
NAGA	Kanzaki disease Schindler disease, type I Schindler disease, type III
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)	Charcot-Marie-Tooth Hereditary Neuropathy Overview Mucopolysaccharidosis Type III
NAGS	N-acetylglutamate synthase deficiency	Urea Cycle Disorders Overview
NALCN	Congenital contractures of the limbs and face, hypotonia Hypotonia, infantile
NANS	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type
NARS1	Neurodevelopmental disorder with microcephaly, impaired language Neurodevelopmental disorder with microcephaly, impaired language
NARS2	Combined oxidative phosphorylation deficiency 24
NAXD	Encephalopathy, progressive
NAXE	Encephalopathy, progressive
NBAS	Infantile liver failure syndrome 2 Short stature, optic nerve atrophy
NBEA	Neurodevelopmental disorder with or without early-onset generalized epilepsy
NBN	Aplastic anemia Leukemia, acute lymphoblastic Nijmegen breakage syndrome	Nijmegen Breakage Syndrome
NCAPD3	Microcephaly 22, primary
NCF1	Chronic granulomatous disease 1, autosomal recessive	Williams Syndrome Chronic Granulomatous Disease
NCF2	Chronic granulomatous disease 2, autosomal recessive	Chronic Granulomatous Disease
NCKAP1L	Immunodeficiency 72 with autoinflammation
NDE1	Lissencephaly 4 (with microcephaly)
NDN	Prader-Willi syndrome	Prader-Willi Syndrome
NDP	Exudative vitreoretinopathy 2, X-linked Norrie disease
NDST1	Mental retardation, autosomal recessive 46
NDUFA1	Mitochondrial complex I deficiency, nuclear type 12	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFA10	Mitochondrial complex I deficiency, nuclear type 22	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFA11	Mitochondrial complex I deficiency, nuclear type 14
NDUFA12	Mitochondrial complex I deficiency, nuclear type 23
NDUFA13
NDUFA2	Mitochondrial complex I deficiency, nuclear type 13
NDUFA6	Mitochondrial complex I deficiency, nuclear type 33
NDUFA9	Mitochondrial complex I deficiency, nuclear type 26
NDUFAF1	Mitochondrial complex I deficiency, nuclear type 11
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFAF3	Mitochondrial complex I deficiency, nuclear type 18
NDUFAF4	Mitochondrial complex I deficiency, nuclear type 15
NDUFAF5	Mitochondrial complex I deficiency, nuclear type 16
NDUFAF6	Fanconi renotubular syndrome 5 Mitochondrial complex I deficiency, nuclear type 17
NDUFAF8	Mitochondrial complex I deficiency, nuclear type 34
NDUFB3	Mitochondrial complex I deficiency, nuclear type 25
NDUFB8	Mitochondrial complex I deficiency, nuclear type 32
NDUFS1	Mitochondrial complex I deficiency, nuclear type 5	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFS2	Mitochondrial complex I deficiency, nuclear type 6
NDUFS3	Mitochondrial complex I deficiency, nuclear type 8	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFS6	Mitochondrial complex I deficiency, nuclear type 9
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFS8	Mitochondrial complex I deficiency, nuclear type 2	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFV1	Mitochondrial complex I deficiency, nuclear type 4	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7
NEB	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2, autosomal recessive
NECAP1	Developmental and epileptic encephalopathy 21
NECTIN1	Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7
NECTIN4
NEDD4L	Periventricular nodular heterotopia 7
NEFL	Charcot-Marie-Tooth disease, dominant intermediate G Charcot-Marie-Tooth disease, type 1F Charcot-Marie-Tooth disease, type 2E	Charcot-Marie-Tooth Hereditary Neuropathy Overview
NEK8	Renal-hepatic-pancreatic dysplasia 2	Nephronophthisis
NEMF	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
NEU1	Sialidosis, type I Sialidosis, type II
NEUROG3	Diarrhea 4, malabsorptive
NEXMIF	Intellectual developmental disorder, X-linked 98
NF1	Leukemia, juvenile myelomonocytic Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Watson syndrome	Neurofibromatosis 1 Wilms Tumor Predisposition
NF2	Meningioma, NF2-related Neurofibromatosis, type 2 Schwannomatosis, somatic	Neurofibromatosis 2
NFASC	Neurodevelopmental disorder with central and peripheral motor dysfunction
NFIA	Brain malformations with or without urinary tract defects	NFIA-Related Disorder
NFIB	Macrocephaly, acquired
NFIX	Malan syndrome Marshall-Smith syndrome
NFKBIA	Ectodermal dysplasia and immunodeficiency 2
NFU1	Multiple mitochondrial dysfunctions syndrome 1
NGF	Neuropathy, hereditary sensory and autonomic	Congenital Insensitivity to Pain Overview
NGLY1	Congenital disorder of deglycosylation	NGLY1-Related Congenital Disorder of Deglycosylation
NHEJ1	Severe combined immunodeficiency with microcephaly, growth retardation
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)	Progressive Myoclonus Epilepsy, Lafora Type
NHP2	Dyskeratosis congenita, autosomal recessive 2	Dyskeratosis Congenita
NHS	Cataract 40, X-linked Nance-Horan syndrome
NIPAL4	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
NIPBL	Cornelia de Lange syndrome 1	Cornelia de Lange Syndrome
NKX2-1	Chorea, hereditary benign Choreoathetosis, hypothyroidism	NKX2-1-Related Disorders
NKX2-5	Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations, variable Hypoplastic left heart syndrome 2 Hypothyroidism, congenital nongoitrous Tetralogy of Fallot Ventricular septal defect 3
NKX2-6	Conotruncal heart malformations Persistent truncus arteriosus
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia
NKX6-2	Spastic ataxia 8, autosomal recessive	NKX6-2-Related Disorder
NLRC4	Autoinflammation with infantile enterocolitis
NLRP3	CINCA syndrome Deafness, autosomal dominant 34 Familial cold inflammatory syndrome 1 Keratoendothelitis fugax hereditaria Muckle-Wells syndrome
NMNAT1	Leber congenital amaurosis 9 Spondyloepiphyseal dysplasia, sensorineural hearing loss
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency
NODAL	Heterotaxy, visceral	Holoprosencephaly Overview
NOG	Brachydactyly, type B2 Multiple synostoses syndrome 1 Stapes ankylosis with broad thumbs and toes Symphalangism, proximal Tarsal-carpal coalition syndrome
NONO	Intellectual developmental disorder, X-linked syndromic 34
NOTCH1	Adams-Oliver syndrome 5 Aortic valve disease 1	Adams-Oliver Syndrome
NOTCH2	Alagille syndrome 2 Hajdu-Cheney syndrome	Alagille Syndrome
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 Lateral meningocele syndrome	CADASIL Lateral Meningocele Syndrome
NOVA2	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D	Niemann-Pick Disease Type C
NPC2	Niemann-pick disease, type C2	Niemann-Pick Disease Type C
NPHP1	Joubert syndrome 4 Nephronophthisis 1, juvenile Senior-Loken syndrome-1	Joubert Syndrome Nephronophthisis
NPHP3	Meckel syndrome 7 Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1	Nephronophthisis
NPHP4	Nephronophthisis 4 Senior-Loken syndrome 4	Nephronophthisis
NPHS1	Nephrotic syndrome, type 1
NPHS2	Nephrotic syndrome, type 2
NPR2	Acromesomelic dysplasia 1, Maroteaux type Epiphyseal chondrodysplasia, Miura type Short stature with nonspecific skeletal abnormalities
NR0B1	46XY sex reversal 2, dosage-sensitive Adrenal hypoplasia, congenital	NR0B1-Related Adrenal Hypoplasia Congenita
NR1H4	Cholestasis, progressive familial intrahepatic
NR2F1	Bosch-Boonstra-Schaaf optic atrophy syndrome
NR2F2	46,XX sex reversal 5 Congenital heart defects, multiple types
NR3C2	Hypertension, early-onset Pseudohypoaldosteronism type I, autosomal dominant
NR5A1	46, XX sex reversal 4 46XY sex reversal 3 Adrenocortical insufficiency Premature ovarian failure 7 Spermatogenic failure 8	Nonsyndromic Disorders of Testicular Development
NRXN1	Pitt-Hopkins-like syndrome 2
NSD1	Sotos syndrome	Wilms Tumor Predisposition Sotos Syndrome
NSDHL	CHILD syndrome CK syndrome	NSDHL-Related Disorders
NSUN2	Mental retardation, autosomal recessive 5
NT5C2	Spastic paraplegia 45, autosomal recessive
NT5C3A	Anemia, hemolytic
NTNG2	Neurodevelopmental disorder with behavioral abnormalities, absent speech
NTRK1	Insensitivity to pain, congenital	NTRK1 Congenital Insensitivity to Pain with Anhidrosis Congenital Insensitivity to Pain Overview
NTRK2	Developmental and epileptic encephalopathy 58 Obesity, hyperphagia
NUBPL	Mitochondrial complex I deficiency, nuclear type 21
NUP107	Galloway-Mowat syndrome 7 Nephrotic syndrome, type 11
NUP188	Sandestig-Stefanova syndrome
NYX	Night blindness, congenital stationary (complete)	X-Linked Congenital Stationary Night Blindness
OBSL1	3-M syndrome 2	Three M Syndrome
OCA2	Albinism, brown oculocutaneous Albinism, oculocutaneous	Prader-Willi Syndrome
OCLN	Pseudo-TORCH syndrome 1
OCRL	Dent disease 2 Lowe syndrome	Lowe Syndrome Dent Disease
ODAPH	Amelogenesis imperfecta, type IIA4
OFD1	Joubert syndrome 10 Orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome, type 2	Oral-Facial-Digital Syndrome Type I Joubert Syndrome
OGDH
OPA1	Behr syndrome Optic atrophy 1 Optic atrophy plus syndrome	Optic Atrophy Type 1
OPA3	3-methylglutaconic aciduria, type III Optic atrophy 3 with cataract	Costeff Syndrome
OPHN1	Intellectual developmental disorder, X-linked syndromic
ORC1	Meier-Gorlin syndrome 1
ORC4	Meier-Gorlin syndrome 2
ORC6	Meier-Gorlin syndrome 3
OSGEP	Galloway-Mowat syndrome 3
OSMR	Amyloidosis, primary localized cutaneous
OSTM1	Osteopetrosis, autosomal recessive 5
OTC	Ornithine transcarbamylase deficiency	Urea Cycle Disorders Overview Ornithine Transcarbamylase Deficiency
OTOA	Deafness, autosomal recessive 22	Hereditary Hearing Loss and Deafness Overview
OTOF	Auditory neuropathy, autosomal recessive Deafness, autosomal recessive 9	OTOF-Related Deafness Hereditary Hearing Loss and Deafness Overview
OTOGL	Deafness, autosomal recessive 84B
OTUD5	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
OTUD6B	Intellectual developmental disorder with dysmorphic facies, seizures
OTULIN	Autoinflammation, panniculitis
OTX2	Microphthalmia, syndromic 5 Pituitary hormone deficiency, combined Retinal dystrophy, early-onset
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
OXR1	Cerebellar hypoplasia/atrophy, epilepsy
P3H1	Osteogenesis imperfecta, type VIII
P4HB	Cole-Carpenter syndrome 1
PACS1	Schuurs-Hoeijmakers syndrome	PACS1 Neurodevelopmental Disorder
PACS2	Developmental and epileptic encephalopathy 66
PAFAH1B1	Lissencephaly 1 Subcortical laminar heterotopia	PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia
PAH	Phenylketonuria	Phenylalanine Hydroxylase Deficiency
PAK3	Intellectual developmental disorder, X-linked 30
PALB2	Fanconi anemia, complementation group N	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
PANK2	HARP syndrome Neurodegeneration with brain iron accumulation 1	Pantothenate Kinase-Associated Neurodegeneration
PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes
PARN	Dyskeratosis congenita, autosomal recessive 6 Pulmonary fibrosis and/or bone marrow failure, telomere-related	Dyskeratosis Congenita
PARS2	Developmental and epileptic encephalopathy 75
PAX2	Glomerulosclerosis, focal segmental Papillorenal syndrome	PAX2-Related Disorder
PAX3	Craniofacial-deafness-hand syndrome Rhabdomyosarcoma 2, alveolar Waardenburg syndrome, type 1 Waardenburg syndrome, type 3	Waardenburg Syndrome Type I
PAX6	Aniridia Anterior segment dysgenesis 5, multiple subtypes Cataract with late-onset corneal dystrophy Foveal hypoplasia 1 Keratitis Optic nerve hypoplasia	PAX6-Related Aniridia
PAX8	Hypothyroidism, congenital
PC	Pyruvate carboxylase deficiency Thrombophilia 3 due to protein C deficiency, autosomal dominant Thrombophilia 3 due to protein C deficiency, autosomal recessive	Pyruvate Carboxylase Deficiency
PCARE	Retinitis pigmentosa 54	Nonsyndromic Retinitis Pigmentosa Overview
PCBD1	Hyperphenylalaninemia, BH4-deficient
PCCA	Propionicacidemia	Propionic Acidemia
PCCB	Propionicacidemia	Propionic Acidemia
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1D/F digenic Usher syndrome, type 1F	Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview
PCDH19	Developmental and epileptic encephalopathy 9
PCGF2	Turnpenny-Fry syndrome
PCK1
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II Nephrotic syndrome, type 17	Microcephalic Osteodysplastic Primordial Dwarfism Type II
PCSK9	Hypercholesterolemia, familial	Familial Hypercholesterolemia
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy
PCYT2	Spastic paraplegia 82, autosomal recessive
PDCD10	Cerebral cavernous malformations-3	Cerebral Cavernous Malformation, Famiilial
PDE10A	Dyskinesia, limb and orofacial Striatal degeneration, autosomal dominant
PDE4D	Acrodysostosis 2, with or without hormone resistance
PDE6D	Joubert syndrome 22	Joubert Syndrome
PDE6G	Retinitis pigmentosa 57	Nonsyndromic Retinitis Pigmentosa Overview
PDGFRB	Basal ganglia calcification, idiopathic Kosaki overgrowth syndrome Myeloproliferative disorder with eosinophilia Myofibromatosis, infantile Premature aging syndrome, Penttinen type	Primary Familial Brain Calcification
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency	Primary Pyruvate Dehydrogenase Complex Deficiency Overview
PDHB	Pyruvate dehydrogenase E1-beta deficiency	Primary Pyruvate Dehydrogenase Complex Deficiency Overview
PDHX	Lacticacidemia due to PDX1 deficiency	Primary Pyruvate Dehydrogenase Complex Deficiency Overview
PDP1	Pyruvate dehydrogenase phosphatase deficiency
PDSS2	Coenzyme Q10 deficiency, primary	Primary Coenzyme Q10 Deficiency
PDX1	Lacticacidemia due to PDX1 deficiency MODY, type IV Pancreatic agenesis 1	Permanent Neonatal Diabetes Mellitus Maturity-Onset Diabetes of the Young Overview
PEPD	Prolidase deficiency	Prolidase Deficiency
PERCC1	Diarrhea 11, malabsorptive
PET100	Mitochondrial complex IV deficiency, nuclear type 12
PEX1	Heimler syndrome 1 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1B (NALD/IRD)	Zellweger Spectrum Disorder
PEX10	Peroxisome biogenesis disorder 6A (Zellweger) Peroxisome biogenesis disorder 6B	Zellweger Spectrum Disorder
PEX11B	Peroxisome biogenesis disorder 14B	Zellweger Spectrum Disorder
PEX12	Peroxisome biogenesis disorder 3A (Zellweger) Peroxisome biogenesis disorder 3B	Zellweger Spectrum Disorder
PEX13	Peroxisome biogenesis disorder 11A (Zellweger) Peroxisome biogenesis disorder 11B	Zellweger Spectrum Disorder
PEX14	Peroxisome biogenesis disorder 13A (Zellweger)	Zellweger Spectrum Disorder
PEX16	Peroxisome biogenesis disorder 8A (Zellweger) Peroxisome biogenesis disorder 8B	Zellweger Spectrum Disorder
PEX19	Peroxisome biogenesis disorder 12A (Zellweger)	Zellweger Spectrum Disorder
PEX2	Peroxisome biogenesis disorder 5A (Zellweger) Peroxisome biogenesis disorder 5B	Zellweger Spectrum Disorder
PEX26	Peroxisome biogenesis disorder 7A (Zellweger) Peroxisome biogenesis disorder 7B	Zellweger Spectrum Disorder
PEX3	Peroxisome biogenesis disorder 10A (Zellweger)	Zellweger Spectrum Disorder
PEX5	Peroxisome biogenesis disorder 2A (Zellweger) Peroxisome biogenesis disorder 2B Rhizomelic chondrodysplasia punctata, type 5	Zellweger Spectrum Disorder
PEX6	Heimler syndrome 2 Peroxisome biogenesis disorder 4A (Zellweger) Peroxisome biogenesis disorder 4B	Zellweger Spectrum Disorder
PEX7	Peroxisome biogenesis disorder 9B Rhizomelic chondrodysplasia punctata, type 1	Rhizomelic Chondrodysplasia Punctata Type 1 Adult Refsum Disease
PFKM	Glycogen storage disease VII
PGAP1	Neurodevelopmental disorder with dysmorphic features, spasticity
PGAP2	Hyperphosphatasia with mental retardation syndrome 3
PGAP3	Hyperphosphatasia with mental retardation syndrome 4
PGK1	Phosphoglycerate kinase 1 deficiency
PGM1	Congenital disorder of glycosylation, type It	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
PGM3	Immunodeficiency 23	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
PHACTR1	Developmental and epileptic encephalopathy 70
PHEX	Hypophosphatemic rickets, X-linked dominant	X-Linked Hypophosphatemia
PHF21A	Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
PHF6	Borjeson-Forssman-Lehmann syndrome
PHF8	Intellectual developmental disorder, X-linked
PHGDH	Neu-Laxova syndrome 1 Phosphoglycerate dehydrogenase deficiency
PHIP	Chung-Jansen syndrome
PHKA2	Glycogen storage disease, type IXa1 Glycogen storage disease, type IXa2	Phosphorylase Kinase Deficiency
PHKB	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	Phosphorylase Kinase Deficiency
PHKG2	Glycogen storage disease IXc	Phosphorylase Kinase Deficiency
PHOX2B	Central hypoventilation syndrome, congenital Neuroblastoma with Hirschsprung disease	Congenital Central Hypoventilation Syndrome
PHYH	Refsum disease	Adult Refsum Disease
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Lymphatic malformation 6
PIEZO2	Arthrogryposis, distal Arthrogryposis, distal Arthrogryposis, distal
PIGA	Multiple congenital anomalies-hypotonia-seizures syndrome 2 Paroxysmal nocturnal hemoglobinuria, somatic
PIGG	Intellectual developmental disorder, autosomal recessive 53
PIGK	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
PIGL	CHIME syndrome
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1	Fryns Syndrome
PIGO	Hyperphosphatasia with mental retardation syndrome 2
PIGQ	Multiple congenital anomalies-hypotonia-seizures syndrome 4
PIGS	Developmental and epileptic encephalopathy 95
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGV	Hyperphosphatasia with mental retardation syndrome 1
PIGY	Hyperphosphatasia with mental retardation syndrome 6
PIK3CD	Immunodeficiency 14A, autosomal dominant Immunodeficiency 14B, autosomal recessive
PIK3R1	Immunodeficiency 36 SHORT syndrome	SHORT Syndrome
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	MPPH Syndrome
PINK1	Parkinson disease 6, early onset	Parkinson Disease Overview PINK1 Type of Young-Onset Parkinson Disease
PISD	Liberfarb syndrome
PITX1	Clubfoot, congenital Liebenberg syndrome
PITX2	Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome, type 1 Ring dermoid of cornea
PITX3	Anterior segment dysgenesis 1, multiple subtypes Cataract 11, multiple types Cataract 11, syndromic
PKD1	Polycystic kidney disease 1	Polycystic Kidney Disease, Autosomal Dominant
PKD1L1	Heterotaxy, visceral
PKD2	Polycystic kidney disease 2	Polycystic Kidney Disease, Autosomal Dominant
PKHD1	Polycystic kidney disease 4, with or without hepatic disease	Polycystic Kidney Disease, Autosomal Recessive
PKLR	Adenosine triphosphate, elevated Pyruvate kinase deficiency
PKP2	Arrhythmogenic right ventricular dysplasia 9	Arrhythmogenic Right Ventricular Cardiomyopathy Brugada Syndrome
PLA2G6	Infantile neuroaxonal dystrophy 1 Neurodegeneration with brain iron accumulation 2B Parkinson disease 14, autosomal recessive	PLA2G6-Associated Neurodegeneration Neurodegeneration with Brain Iron Accumulation Disorders Overview
PLAA	Neurodevelopmental disorder with progressive microcephaly, spasticity
PLCB1	Developmental and epileptic encephalopathy 12
PLCB4	Auriculocondylar syndrome 2
PLCE1	Nephrotic syndrome, type 3
PLCG2	Autoinflammation, antibody deficiency Familial cold autoinflammatory syndrome 3
PLEC	Epidermolysis bullosa simplex 5A, Ogna type Epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex 5C, with pyloric atresia Muscular dystrophy, limb-girdle	Epidermolysis Bullosa with Pyloric Atresia
PLEKHG5	Charcot-Marie-Tooth disease, recessive intermediate C Spinal muscular atrophy, distal	Charcot-Marie-Tooth Hereditary Neuropathy Overview
PLG	Angioedema, hereditary Dysplasminogenemia Plasminogen deficiency, type I
PLK4	Microcephaly and chorioretinopathy, autosomal recessive
PLN	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type	PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
PLOD2	Bruck syndrome 2
PLOD3	Lysyl hydroxylase 3 deficiency
PLP1	Pelizaeus-Merzbacher disease Spastic paraplegia 2, X-linked	PLP1 Disorders
PLPBP	Epilepsy, early-onset
PLS3	Bone mineral density QTL18, osteoporosis
PMM2	Congenital disorder of glycosylation, type Ia	PMM2-CDG Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
PMP22	Charcot-Marie-Tooth disease, type 1A Charcot-Marie-Tooth disease, type 1E Dejerine-Sottas disease Neuropathy, recurrent Roussy-Levy syndrome	Charcot-Marie-Tooth Hereditary Neuropathy Overview Hereditary Neuropathy with Liability to Pressure Palsies
PMPCB	Multiple mitochondrial dysfunctions syndrome 6
PMS2	Colorectal cancer, hereditary nonpolyposis Mismatch repair cancer syndrome 4	Lynch Syndrome
PNKD	Paroxysmal nonkinesigenic dyskinesia 1	Familial Paroxysmal Nonkinesigenic Dyskinesia
PNKP	Ataxia-oculomotor apraxia 4 Microcephaly, seizures
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency
PNPLA1	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
PNPLA8
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency
PNPT1	Combined oxidative phosphorylation deficiency 13 Deafness, autosomal recessive 70
POC1A	Short stature, onychodysplasia
POC1B	Cone-rod dystrophy 20	Joubert Syndrome
POGZ	White-Sutton syndrome	White-Sutton Syndrome
POLA1	Pigmentary disorder, reticulate Van Esch-O'Driscoll syndrome
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Progressive external ophthalmoplegia, autosomal dominant 1 Progressive external ophthalmoplegia, autosomal recessive 1	POLG-Related Disorders
POLG2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
POLH	Xeroderma pigmentosum, variant type	Xeroderma Pigmentosum
POLR1A	Acrofacial dysostosis, Cincinnati type
POLR1B	Treacher-Collins syndrome 4	Treacher Collins Syndrome
POLR1C	Leukodystrophy, hypomyelinating Treacher Collins syndrome 3	Treacher Collins Syndrome POLR3-Related Leukodystrophy
POLR1D	Treacher Collins syndrome 2	Treacher Collins Syndrome
POLR3A	Leukodystrophy, hypomyelinating Wiedemann-Rautenstrauch syndrome	POLR3-Related Leukodystrophy
POLR3B	Charcot-Marie-Tooth disease, demyelinating Leukodystrophy, hypomyelinating	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency POLR3-Related Leukodystrophy
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C Retinitis pigmentosa 76
POMGNT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A Muscular dystrophy-dystroglycanopathy (limb-girdle) type C
POMK	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
POMP	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Proteasome-associated autoinflammatory syndrome 2
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B Muscular dystrophy-dystroglycanopathy (limb-girdle), type C
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Disordered steroidogenesis due to cytochrome P450 oxidoreductase	Cytochrome P450 Oxidoreductase Deficiency
PORCN	Focal dermal hypoplasia	Focal Dermal Hypoplasia
POU1F1	Pituitary hormone deficiency, combined or isolated
POU3F4	Deafness, X-linked 2	Hereditary Hearing Loss and Deafness Overview
POU4F3	Deafness, autosomal dominant 15	Hereditary Hearing Loss and Deafness Overview
PPA2	Sudden cardiac failure, infantile
PPIB	Osteogenesis imperfecta, type IX
PPP1CB	Noonan syndrome-like disorder with loose anagen hair 2
PPP1R12A	Genitourinary and/or/brain malformation syndrome	PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
PPP1R15B	Microcephaly, short stature
PPP2CA	Neurodevelopmental disorder and language delay with or without structural brain abnormalities
PPP2R1A	Mental retardation, autosomal dominant 36
PPP2R5D	Mental retardation, autosomal dominant 35	PPP2R5D-Related Neurodevelopmental Disorder
PPP3CA	Arthrogryposis, cleft palate Developmental and epileptic encephalopathy 91
PPT1	Ceroid lipofuscinosis, neuronal
PQBP1	Renpenning syndrome
PRDM12	Neuropathy, hereditary sensory and autonomic	Congenital Insensitivity to Pain Overview
PRDM16	Cardiomyopathy, dilated Left ventricular noncompaction 8
PREPL	Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
PRF1	Aplastic anemia Hemophagocytic lymphohistiocytosis, familial Lymphoma, non-Hodgkin	Familial Hemophagocytic Lymphohistiocytosis
PRICKLE1	Epilepsy, progressive myoclonic 1B	PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
PRKAG2	Cardiomyopathy, hypertrophic 6 Glycogen storage disease of heart, lethal congenital Wolff-Parkinson-White syndrome	Hypertrophic Cardiomyopathy Overview
PRKAR1A	Acrodysostosis 1, with or without hormone resistance Adrenocortical tumor, somatic Carney complex, type 1 Myxoma, intracardiac Pigmented nodular adrenocortical disease, primary	Carney Complex
PRKCD	Autoimmune lymphoproliferative syndrome, type III
PRKD1	Congenital heart defects and ectodermal dysplasia
PRMT7	Short stature, brachydactyly
PROC	Thrombophilia 3 due to protein C deficiency, autosomal dominant Thrombophilia 3 due to protein C deficiency, autosomal recessive
PRODH	Hyperprolinemia, type I
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
PROP1	Pituitary hormone deficiency, combined	PROP1-Related Combined Pituitary Hormone Deficiency
PROS1	Thrombophilia 5 due to protein S deficiency, autosomal dominant Thrombophilia 5 due to protein S deficiency, autosomal recessive
PRPS1	Arts syndrome Charcot-Marie-Tooth disease, X-linked recessive Deafness, X-linked 1 Gout, PRPS-related Phosphoribosylpyrophosphate synthetase superactivity	Hereditary Hearing Loss and Deafness Overview Charcot-Marie-Tooth Neuropathy X Type 5 Phosphoribosylpyrophosphate Synthetase Superactivity Arts Syndrome DFNX1 Nonsyndromic Hearing Loss and Deafness
PRRT2	Convulsions, familial infantile Episodic kinesigenic dyskinesia 1 Seizures, benign familial infantile	PRRT2-Associated Paroxysmal Movement Disorders
PRRX1	Agnathia-otocephaly complex
PRSS12	Mental retardation, autosomal recessive 1
PRSS56	Microphthalmia, isolated 6
PRUNE1	Neurodevelopmental disorder with microcephaly, hypotonia
PRX	Charcot-Marie-Tooth disease, type 4F Dejerine-Sottas disease	Charcot-Marie-Tooth Hereditary Neuropathy Overview
PSAP	Combined SAP deficiency Gaucher disease, atypical Krabbe disease, atypical Metachromatic leukodystrophy due to SAP-b deficiency
PSAT1	Neu-Laxova syndrome 2
PSMB8	Proteasome-associated autoinflammatory syndrome 1 and digenic forms
PSMD12	Stankiewicz-Isidor syndrome
PSPH	Phosphoserine phosphatase deficiency
PTCH1	Basal cell carcinoma, somatic Basal cell nevus syndrome Holoprosencephaly 7	Nevoid Basal Cell Carcinoma Syndrome Holoprosencephaly Overview
PTCHD1
PTDSS1	Lenz-Majewski hyperostotic dwarfism
PTEN	Cowden syndrome 1 Lhermitte-Duclos syndrome Macrocephaly/autism syndrome Prostate cancer, somatic	PTEN Hamartoma Tumor Syndrome
PTF1A	Pancreatic agenesis 2 Pancreatic and cerebellar agenesis
PTH1R	Chondrodysplasia, Blomstrand type Eiken syndrome Failure of tooth eruption, primary Metaphyseal chondrodysplasia, Murk Jansen type
PTHLH	Brachydactyly, type E2
PTPN11	LEOPARD syndrome 1 Leukemia, juvenile myelomonocytic Metachondromatosis Noonan syndrome 1	Noonan Syndrome Noonan Syndrome with Multiple Lentigines
PTPN14	Choanal atresia and lymphedema
PTPN23	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
PTPRC	Severe combined immunodeficiency, T cell-negative
PTRF	Lipodystrophy, congenital generalized
PTRH2	Infantile-onset multisystem neurologic, endocrine	Charcot-Marie-Tooth Hereditary Neuropathy Overview
PTS	Hyperphenylalaninemia, BH4-deficient
PUF60	Verheij syndrome
PURA	Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia	PURA-Related Neurodevelopmental Disorders
PUS1	Myopathy, lactic acidosis
PUS7	Intellectual developmental disorder with abnormal behavior, microcephaly
PXDN	Anterior segment dysgenesis 7, with sclerocornea
PYCR1	Cutis laxa, autosomal recessive Cutis laxa, autosomal recessive
PYCR2	Leukodystrophy, hypomyelinating
PYGL	Glycogen storage disease VI	Glycogen Storage Disease Type VI
PYGM	McArdle disease	Glycogen Storage Disease Type V
PYROXD1	Myopathy, myofibrillar
QARS1	Microcephaly, progressive
QDPR	Hyperphenylalaninemia, BH4-deficient
QRICH1	Ververi-Brady syndrome
RAB11B	Neurodevelopmental disorder with ataxic gait, absent speech
RAB18	Warburg micro syndrome 3	RAB18 Deficiency
RAB23	Carpenter syndrome
RAB27A	Griscelli syndrome, type 2
RAB39B	Intellectual developmental disorder, X-linked 72 Waisman syndrome	Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
RAB3GAP1	Martsolf syndrome 2 Warburg micro syndrome 1	RAB18 Deficiency
RAB3GAP2	Martsolf syndrome 1 Warburg micro syndrome 2	RAB18 Deficiency
RAB7A	Charcot-Marie-Tooth Hereditary Neuropathy Overview
RAC1	Mental retardation, autosomal dominant 48
RAC2	Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
RAD21	Cornelia de Lange syndrome 4	Cornelia de Lange Syndrome Trichorhinophalangeal Syndrome
RAD50	Nijmegen breakage syndrome-like disorder
RAF1	Cardiomyopathy, dilated LEOPARD syndrome 2 Noonan syndrome 5	Noonan Syndrome Noonan Syndrome with Multiple Lentigines
RAG1	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection Combined cellular and humoral immune defects with granulomas Omenn syndrome Severe combined immunodeficiency, B cell-negative
RAG2	Combined cellular and humoral immune defects with granulomas Omenn syndrome Severe combined immunodeficiency, B cell-negative
RAI1	Smith-Magenis syndrome	Smith-Magenis Syndrome Potocki-Lupski Syndrome
RALGAPA1	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
RAPSN	Fetal akinesia deformation sequence 2 Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
RARB	Microphthalmia, syndromic 12
RARS1	Leukodystrophy, hypomyelinating
RARS2	Pontocerebellar hypoplasia, type 6
RASA1	Basal cell carcinoma, somatic Capillary malformation-arteriovenous malformation 1	Capillary Malformation-Arteriovenous Malformation Syndrome
RAX	Dystonia 16 Microphthalmia, isolated 3
RB1	Bladder cancer, somatic Osteosarcoma, somatic Retinoblastoma Retinoblastoma, trilateral Small cell cancer of the lung, somatic	Retinoblastoma
RBBP8	Jawad syndrome Pancreatic carcinoma, somatic (3) Seckel syndrome 2
RBCK1	Polyglucosan body myopathy 1 with or without immunodeficiency
RBM10	TARP syndrome
RBM20	Cardiomyopathy, dilated	Dilated Cardiomyopathy Overview
RBM8A	Thrombocytopenia-absent radius syndrome	Thrombocytopenia Absent Radius Syndrome
RBPJ	Adams-Oliver syndrome 3	Adams-Oliver Syndrome
RDH11
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome, type 2	Baller-Gerold Syndrome Rothmund-Thomson Syndrome
RELN	Lissencephaly 2 (Norman-Roberts type)	Autosomal Dominant Epilepsy with Auditory Features
REN	Renal tubular dysgenesis Tubulointerstitial kidney disease, autosomal dominant	Autosomal Dominant Tubulointerstitial Kidney Disease -- REN
RERE	Neurodevelopmental disorder with or without anomalies of the brain, eye	RERE-Related Disorders
RET	Medullary thyroid carcinoma Multiple endocrine neoplasia IIA Multiple endocrine neoplasia IIB Pheochromocytoma	Multiple Endocrine Neoplasia Type 2
RETREG1	Neuropathy, hereditary sensory and autonomic	Hereditary Sensory and Autonomic Neuropathy Type II
RFT1	Congenital disorder of glycosylation, type In	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
RFX5	Bare lymphocyte syndrome, type II Bare lymphocyte syndrome, type II
RFX6	Mitchell-Riley syndrome
RHOBTB2	Developmental and epileptic encephalopathy 64
RIC1	CATIFA syndrome
RIMS2	Cone-rod synaptic disorder syndrome, congenital nonprogressive
RIN2	Macrocephaly, alopecia
RIPK4	CHAND syndrome Popliteal pterygium syndrome, Bartsocas-Papas type 1
RIT1	Noonan syndrome 8	Noonan Syndrome
RLIM	Tonne-Kalscheuer syndrome
RMND1	Combined oxidative phosphorylation deficiency 11
RMRP	Anauxetic dysplasia 1 Cartilage-hair hypoplasia Metaphyseal dysplasia without hypotrichosis	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
RNASEH2A	Aicardi-Goutieres syndrome 4	Aicardi-Goutieres Syndrome
RNASEH2B	Aicardi-Goutieres syndrome 2	Aicardi-Goutieres Syndrome
RNASEH2C	Aicardi-Goutieres syndrome 3	Aicardi-Goutieres Syndrome
RNASET2	Leukoencephalopathy, cystic
RNF113A	Trichothiodystrophy 5, nonphotosensitive
RNF13	Developmental and epileptic encephalopathy 73
RNF135
RNF168	RIDDLE syndrome
ROBO3	Gaze palsy, familial horizontal
ROGDI	Kohlschutter-Tonz syndrome
ROR2	Brachydactyly, type B1 Robinow syndrome, autosomal recessive	ROR2-Related Robinow Syndrome
RORA	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
RPE65	Leber congenital amaurosis 2 Retinitis pigmentosa 20 Retinitis pigmentosa 87 with choroidal involvement	Nonsyndromic Retinitis Pigmentosa Overview RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
RPGR	Cone-rod dystrophy, X-linked Macular degeneration, X-linked atrophic Retinitis pigmentosa 3 Retinitis pigmentosa, X-linked	Nonsyndromic Retinitis Pigmentosa Overview
RPGRIP1	Cone-rod dystrophy 13 Leber congenital amaurosis 6
RPGRIP1L	Joubert syndrome 7 Meckel syndrome 5	Joubert Syndrome Nephronophthisis
RPIA	Ribose 5-phosphate isomerase deficiency
RPL10	Intellectual developmental disorder, X-linked
RPL11	Diamond-Blackfan anemia 7	Diamond-Blackfan Anemia
RPL13	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RPL26	Diamond-Blackfan Anemia
RPL5	Diamond-Blackfan anemia 6	Diamond-Blackfan Anemia
RPS15
RPS17	Diamond-Blackfan anemia 4	Diamond-Blackfan Anemia
RPS19	Diamond-Blackfan anemia 1	Diamond-Blackfan Anemia
RPS24	Diamond-blackfan anemia 3	Diamond-Blackfan Anemia
RPS26	Diamond-Blackfan anemia 10	Diamond-Blackfan Anemia
RPS28	Diamond Blackfan anemia 15 with mandibulofacial dysostosis	Diamond-Blackfan Anemia
RPS29	Diamond-Blackfan anemia 13	Diamond-Blackfan Anemia
RPS6KA3	Coffin-Lowry syndrome Intellectual developmental disorder, X-linked 19	Coffin-Lowry Syndrome
RPS7	Diamond-Blackfan anemia 8	Diamond-Blackfan Anemia
RRM2B	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Mitochondrial DNA depletion syndrome 8B (MNGIE type) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	RRM2B Mitochondrial DNA Maintenance Defects
RS1	Retinoschisis	X-Linked Congenital Retinoschisis
RSPH1	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
RSPH3	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
RSPH4A	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
RSPH9	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
RSPO2	Tetraamelia syndrome 2
RSPO4	Anonychia congenita
RSPRY1	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
RTEL1	Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5 Pulmonary fibrosis and/or bone marrow failure, telomere-related	Dyskeratosis Congenita
RTN4IP1	Optic atrophy 10 with or without ataxia, mental retardation
RTTN	Microcephaly, short stature
RUNX2	Cleidocranial dysplasia Cleidocranial dysplasia, forme fruste Cleidocranial dysplasia, forme fruste Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Cleidocranial Dysplasia Spectrum Disorder
RXYLT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RYR1	Central core disease King-Denborough syndrome Minicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital	Malignant Hyperthermia Susceptibility
RYR2	Arrhythmogenic right ventricular dysplasia 2 Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Ventricular tachycardia, catecholaminergic polymorphic	Arrhythmogenic Right Ventricular Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia
SACS	Spastic ataxia, Charlevoix-Saguenay type	ARSACS
SALL1	Townes-Brocks branchiootorenal-like syndrome Townes-Brocks syndrome 1	Townes-Brocks Syndrome
SALL4	Duane-radial ray syndrome	Duane Syndrome SALL4-Related Disorders
SAMD9	MIRAGE syndrome Monosomy 7 myelodysplasia and leukemia syndrome 2 Tumoral calcinosis, familial	MIRAGE Syndrome
SAMD9L	Ataxia-pancytopenia syndrome Monosomy 7 myelodysplasia and leukemia syndrome 1	SAMD9L Ataxia-Pancytopenia Syndrome
SAMHD1	Aicardi-Goutieres syndrome 5	Aicardi-Goutieres Syndrome
SARS2	Hyperuricemia, pulmonary hypertension
SASS6	Microcephaly 14, primary
SATB2	Glass syndrome	SATB2-Associated Syndrome
SBDS	Shwachman-Diamond syndrome	Shwachman-Diamond Syndrome Pancreatitis Overview
SBF1	Charcot-Marie-Tooth disease, type 4B3	Charcot-Marie-Tooth Hereditary Neuropathy Overview
SC5D	Lathosterolosis
SCAPER	Intellectual developmental disorder and retinitis pigmentosa
SCARF2	Van den Ende-Gupta syndrome
SCN11A	Episodic pain syndrome, familial Neuropathy, hereditary sensory and autonomic	Congenital Insensitivity to Pain Overview
SCN1A	Developmental and epileptic encephalopathy 6B, non-Dravet Dravet syndrome Febrile seizures, familial Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic	SCN1A-Related Seizure Disorders Familial Hemiplegic Migraine
SCN1B	Atrial fibrillation, familial Brugada syndrome 5 Cardiac conduction defect, nonspecific Developmental and epileptic encephalopathy 52 Generalized epilepsy with febrile seizures plus, type 1	Brugada Syndrome
SCN2A	Developmental and epileptic encephalopathy 11 Episodic ataxia, type 9 Seizures, benign familial infantile
SCN3A	Developmental and epileptic encephalopathy 62 Epilepsy, familial focal	SCN3A-Related Neurodevelopmental Disorder
SCN4A	Hyperkalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Myasthenic syndrome, congenital Myotonia congenita, atypical Paramyotonia congenita	Congenital Myasthenic Syndromes Overview Hypokalemic Periodic Paralysis Hyperkalemic Periodic Paralysis
SCN5A	Atrial fibrillation, familial Brugada syndrome 1 Cardiomyopathy, dilated Heart block, nonprogressive Heart block, progressive Long QT syndrome 3 Sick sinus syndrome 1 Ventricular fibrillation, familial	Long QT Syndrome Brugada Syndrome
SCN8A	Cognitive impairment with or without cerebellar ataxia Developmental and epileptic encephalopathy 13 Seizures, benign familial infantile	SCN8A-Related Epilepsy with Encephalopathy
SCN9A	Erythermalgia, primary Insensitivity to pain, congenital Neuropathy, hereditary sensory and autonomic Paroxysmal extreme pain disorder Small fiber neuropathy	SCN9A Neuropathic Pain Syndromes Hereditary Sensory and Autonomic Neuropathy Type II Congenital Insensitivity to Pain Overview
SCNN1A	Bronchiectasis with or without elevated sweat chloride 2 Pseudohypoaldosteronism, type I
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1 Liddle syndrome 1 Pseudohypoaldosteronism, type I
SCO1	Mitochondrial complex IV deficiency, nuclear type 4	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
SCO2	Mitochondrial complex IV deficiency, nuclear type 2 Myopia 6	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
SCYL1	Spinocerebellar ataxia, autosomal recessive 21
SCYL2	Arthrogryposis multiplex congenita 4, neurogenic
SDCCAG8	Bardet-Biedl syndrome 16 Senior-Loken syndrome 7	Bardet-Biedl Syndrome Overview Nephronophthisis
SDHA	Cardiomyopathy, dilated Mitochondrial complex II deficiency, nuclear type 1 Neurodegeneration with ataxia and late-onset optic atrophy Paragangliomas 5	Hereditary Paraganglioma-Pheochromocytoma Syndromes Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
SDHAF1	Mitochondrial complex II deficiency, nuclear type 2
SDHAF2	Paragangliomas 2	Hereditary Paraganglioma-Pheochromocytoma Syndromes
SDHB	Gastrointestinal stromal tumor Mitochondrial complex II deficiency, nuclear type 4 Paraganglioma and gastric stromal sarcoma Paragangliomas 4 Pheochromocytoma	Hereditary Paraganglioma-Pheochromocytoma Syndromes
SDHC	Gastrointestinal stromal tumor Paraganglioma and gastric stromal sarcoma Paragangliomas 3	Hereditary Paraganglioma-Pheochromocytoma Syndromes
SDHD	Mitochondrial complex II deficiency, nuclear type 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1, with or without deafness Pheochromocytoma	Hereditary Paraganglioma-Pheochromocytoma Syndromes
SEC23B	Dyserythropoietic anemia, congenital
SEC24D	Cole-Carpenter syndrome 2
SELENOI	Spastic paraplegia 81, autosomal recessive
SELENON	Muscular dystrophy, rigid spine Myopathy, congenital
SEPN1	Muscular dystrophy, rigid spine Myopathy, congenital
SEPSECS	Pontocerebellar hypoplasia type 2D
44813	Amyotrophy, hereditary neuralgic
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy	SERAC1 Deficiency
SERPINF1	Osteogenesis imperfecta, type VI
SERPINH1	Osteogenesis imperfecta, type X
SET	Mental retardation, autosomal dominant 58
SETBP1	Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome	SETBP1 Haploinsufficiency Disorder
SETD1A	Epilepsy, early-onset Neurodevelopmental disorder with speech impairment and dysmorphic facies
SETD2	Luscan-Lumish syndrome	SETD2 Neurodevelopmental Disorders
SETD5	Mental retardation, autosomal dominant 23
SETX	Amyotrophic lateral sclerosis 4, juvenile Spinocerebellar ataxia, autosomal recessive	Ataxia with Oculomotor Apraxia Type 2 Charcot-Marie-Tooth Hereditary Neuropathy Overview
SF3B4	Acrofacial dysostosis 1, Nager type
SFTPB	Surfactant metabolism dysfunction, pulmonary
SFTPC	Surfactant metabolism dysfunction, pulmonary	Pulmonary Fibrosis Predisposition Overview
SFXN4	Combined oxidative phosphorylation deficiency 18
SGCA	Muscular dystrophy, limb-girdle
SGCB	Muscular dystrophy, limb-girdle
SGCD	Cardiomyopathy, dilated Muscular dystrophy, limb-girdle	Dilated Cardiomyopathy Overview
SGCE	Dystonia-11, myoclonic	SGCE Myoclonus-Dystonia
SGCG	Muscular dystrophy, limb-girdle
SGPL1	Nephrotic syndrome, type 14	Charcot-Marie-Tooth Hereditary Neuropathy Overview Sphingosine Phosphate Lyase Insufficiency Syndrome
SGSH	Mucopolysaccharidosis type IIIA (Sanfilippo A)	Mucopolysaccharidosis Type III
SH2D1A	Lymphoproliferative syndrome, X-linked	Lymphoproliferative Disease, X-Linked
SH3PXD2B	Frank-ter Haar syndrome
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild	SH3TC2-Related Hereditary Motor and Sensory Neuropathy
SHANK2
SHANK3	Phelan-McDermid syndrome	Phelan-McDermid Syndrome
SHH	Holoprosencephaly 3 Microphthalmia with coloboma 5 Schizencephaly Single median maxillary central incisor	Holoprosencephaly Overview
SHOC2	Noonan syndrome-like with loose anagen hair 1
SHOX	Langer mesomelic dysplasia Leri-Weill dyschondrosteosis Short stature, idiopathic familial	SHOX Deficiency Disorders
SIK1	Developmental and epileptic encephalopathy 30
SIL1	Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome
SIM1
SIN3A	Witteveen-Kolk syndrome
SIX1	Branchiootic syndrome 3 Deafness, autosomal dominant 23	Branchiootorenal Spectrum Disorder Hereditary Hearing Loss and Deafness Overview
SIX3	Holoprosencephaly 2 Schizencephaly	Holoprosencephaly Overview
SIX5	Branchiootorenal syndrome 2	Branchiootorenal Spectrum Disorder
SKI	Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome
SKIV2L	Trichohepatoenteric syndrome 2	Trichohepatoenteric Syndrome
SLC10A7	Short stature, amelogenesis imperfecta
SLC12A1	Bartter syndrome, type 1
SLC12A3	Gitelman syndrome
SLC12A5	Developmental and epileptic encephalopathy 34	SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy	Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
SLC13A5	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
SLC16A1	Erythrocyte lactate transporter defect Hyperinsulinemic hypoglycemia, familial Monocarboxylate transporter 1 deficiency
SLC16A2	Allan-Herndon-Dudley syndrome	Allan-Herndon-Dudley Syndrome
SLC17A5	Salla disease Sialic acid storage disorder, infantile	Free Sialic Acid Storage Disorders
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome	Thiamine-Responsive Megaloblastic Anemia Syndrome
SLC19A3	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	Biotin-Thiamine-Responsive Basal Ganglia Disease
SLC1A2	Developmental and epileptic encephalopathy 41
SLC22A5	Carnitine deficiency, systemic primary	Systemic Primary Carnitine Deficiency
SLC25A1	Combined D-2- and L-2-hydroxyglutaric aciduria Myasthenic syndrome, congenital	Congenital Myasthenic Syndromes Overview
SLC25A12	Developmental and epileptic encephalopathy 39
SLC25A13	Citrullinemia, adult-onset type II Citrullinemia, type II	Citrin Deficiency
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
SLC25A19	Microcephaly, Amish type Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	Amish Lethal Microcephaly
SLC25A20	Carnitine-acylcarnitine translocase deficiency
SLC25A22	Developmental and epileptic encephalopathy 3
SLC25A24	Fontaine progeroid syndrome
SLC25A26	Combined oxidative phosphorylation deficiency 28
SLC25A3	Mitochondrial phosphate carrier deficiency
SLC25A38	Anemia, sideroblastic
SLC25A4	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
SLC25A42	Metabolic crises, recurrent
SLC26A2	Achondrogenesis Ib Atelosteogenesis, type II De la Chapelle dysplasia Diastrophic dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant Epiphyseal dysplasia, multiple	Multiple Epiphyseal Dysplasia, Recessive Atelosteogenesis Type 2 Diastrophic Dysplasia Achondrogenesis Type 1B
SLC26A3	Diarrhea 1, secretory chloride
SLC26A4	Deafness, autosomal recessive 4 Pendred syndrome	Hereditary Hearing Loss and Deafness Overview Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
SLC27A4	Ichthyosis prematurity syndrome	Autosomal Recessive Congenital Ichthyosis
SLC2A1	Dystonia 9 GLUT1 deficiency syndrome 1, infantile onset GLUT1 deficiency syndrome 2, childhood onset Stomatin-deficient cryohydrocytosis with neurologic defects	Glucose Transporter Type 1 Deficiency Syndrome
SLC2A10	Arterial tortuosity syndrome	Arterial Tortuosity Syndrome
SLC2A2	Fanconi-Bickel syndrome
SLC30A10	Hypermanganesemia with dystonia 1	Hypermanganesemia with Dystonia 1
SLC33A1	Congenital cataracts, hearing loss Spastic paraplegia 42, autosomal dominant	Huppke-Brendel Syndrome
SLC34A2	Pulmonary alveolar microlithiasis
SLC34A3	Hypophosphatemic rickets with hypercalciuria
SLC35A1	Congenital disorder of glycosylation, type IIf
SLC35A2	Congenital disorder of glycosylation, type IIm
SLC35A3	Arthrogryposis, impaired intellectual development
SLC35C1	Congenital disorder of glycosylation, type IIc
SLC35D1	Schneckenbecken dysplasia
SLC37A4	Congenital disorder of glycosylation, type IIw Glycogen storage disease Ib Glycogen storage disease Ic	Glycogen Storage Disease Type I
SLC39A13	Ehlers-Danlos syndrome, spondylodysplastic type
SLC39A4	Acrodermatitis enteropathica
SLC39A8	Congenital disorder of glycosylation, type IIn
SLC3A1	Cystinuria
SLC45A2	Albinism, oculocutaneous	Oculocutaneous Albinism Type 4
SLC46A1	Folate malabsorption, hereditary	Hereditary Folate Malabsorption
SLC4A1	Cryohydrocytosis Distal renal tubular acidosis 1 Distal renal tubular acidosis 4 with hemolytic anemia Ovalocytosis, SA type Spherocytosis, type 4	Hereditary Distal Renal Tubular Acidosis
SLC4A11	Corneal dystrophy, Fuchs endothelial Corneal endothelial dystrophy and perceptive deafness Corneal endothelial dystrophy, autosomal recessive
SLC4A4	Renal tubular acidosis, proximal
SLC52A2	Brown-Vialetto-Van Laere syndrome 2	Riboflavin Transporter Deficiency
SLC52A3	Brown-Vialetto-Van Laere syndrome 1	Riboflavin Transporter Deficiency
SLC5A1	Glucose/galactose malabsorption
SLC5A2	Renal glucosuria
SLC5A5	Thyroid dyshormonogenesis 1
SLC5A6	Neurodegeneration, infantile-onset
SLC5A7	Myasthenic syndrome, congenital Neuronopathy, distal hereditary motor	Congenital Myasthenic Syndromes Overview
SLC6A1	Myoclonic-atonic epilepsy
SLC6A3	Parkinsonism-dystonia, infantile	SLC6A3-Related Dopamine Transported Deficiency Syndrome
SLC6A5	Hyperekplexia 3	Hereditary Hyperekplexia Overview
SLC6A8	Cerebral creatine deficiency syndrome 1	Creatine Deficiency Disorders
SLC6A9	Glycine encephalopathy with normal serum glycine	GLYT1 Encephalopathy
SLC7A7	Lysinuric protein intolerance	Lysinuric Protein Intolerance
SLC7A9	Cystinuria
SLC9A1	Lichtenstein-Knorr syndrome
SLC9A6	Intellectual developmental disorder, X-linked syndromic	Christianson Syndrome
SLCO2A1	Hypertrophic osteoarthropathy, primary Hypertrophic osteoarthropathy, primary
SLX4	Fanconi anemia, complementation group P	Fanconi Anemia Esophageal Atresia/Tracheoesophageal Fistula Overview
SMAD3	Loeys-Dietz syndrome 3	Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Pancreatic cancer, somatic Polyposis, juvenile intestinal	Hereditary Hemorrhagic Telangiectasia Juvenile Polyposis Syndrome Myhre Syndrome
SMARCA2	Blepharophimosis-impaired intellectual development syndrome Nicolaides-Baraitser syndrome	Nicolaides-Baraitser Syndrome
SMARCA4	Coffin-Siris syndrome 4	Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome
SMARCAL1	Schimke immunoosseous dysplasia	Schimke Immunoosseous Dysplasia
SMARCB1	Coffin-Siris syndrome 3 Rhabdoid tumors, somatic	Coffin-Siris Syndrome Rhabdoid Tumor Predisposition Syndrome Schwannomatosis
SMARCC2	Coffin-Siris syndrome 8	Coffin-Siris Syndrome
SMARCD1	Coffin-Siris syndrome 11
SMARCE1	Coffin-Siris syndrome 5	Coffin-Siris Syndrome
SMC1A	Cornelia de Lange syndrome 2 Developmental and epileptic encephalopathy 85, with or without midline brain defects	Cornelia de Lange Syndrome
SMC3	Cornelia de Lange syndrome 3	Cornelia de Lange Syndrome
SMCHD1	Bosma arhinia microphthalmia syndrome Fascioscapulohumeral muscular dystrophy 2, digenic	Facioscapulohumeral Muscular Dystrophy
SMN1	Spinal muscular atrophy-1 Spinal muscular atrophy-2 Spinal muscular atrophy-3 Spinal muscular atrophy-4	Spinal Muscular Atrophy
SMOC1	Microphthalmia with limb anomalies
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B	Acid Sphingomyelinase Deficiency
SMPD4	Neurodevelopmental disorder with microcephaly, arthrogryposis
SMPX	Deafness, X-linked 4	Hereditary Hearing Loss and Deafness Overview
SMS	Intellectual developmental disorder, X-linked syndromic Smith-Magenis syndrome	Snyder-Robinson Syndrome
SNAP29	Cerebral dysgenesis, neuropathy
SNORD118	Leukoencephalopathy, brain calcifications
SNRPB	Cerebrocostomandibular syndrome
SNTA1	Long QT syndrome 12	Long QT Syndrome
SNX14	Spinocerebellar ataxia, autosomal recessive 20
SON	ZTTK syndrome
SOS1	Noonan syndrome 4	Noonan Syndrome
SOS2	Noonan syndrome 9	Noonan Syndrome
SOX10	PCWH syndrome Waardenburg syndrome, type 2E Waardenburg syndrome, type 4C	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
SOX11	Coffin-Siris syndrome 9	Coffin-Siris Syndrome
SOX17	Vesicoureteral reflux 3
SOX2	Microphthalmia, syndromic 3 Optic nerve hypoplasia and abnormalities of the central nervous system	SOX2 Disorder Esophageal Atresia/Tracheoesophageal Fistula Overview
SOX3	Intellectual developmental disorder, X-linked Panhypopituitarism, X-linked
SOX5	Lamb-Shaffer syndrome
SOX6	Tolchin-Le Caignec syndrome
SOX9	Acampomelic campomelic dysplasia Campomelic dysplasia with autosomal sex reversal Campomelic dysplasia	Campomelic Dysplasia
SP110	Hepatic venoocclusive disease with immunodeficiency	Hepatic Veno-Occlusive Disease with Immunodeficiency
SP7	Osteogenesis imperfecta, type XII
SPAG1	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
SPART	Troyer syndrome	Troyer Syndrome
SPAST	Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia 4
SPATA5	Neurodevelopmental disorder with hearing loss, seizures
SPECC1L	Opitz GBBB syndrome, type II Teebi hypertelorism syndrome 1
SPEG	Centronuclear myopathy 5
SPINK5	Netherton syndrome
SPR	Dystonia, dopa-responsive	Sepiapterin Reductase Deficiency
SPRED1	Legius syndrome	Legius Syndrome
SPTA1	Elliptocytosis-2 Pyropoikilocytosis Spherocytosis, type 3
SPTAN1	Developmental and epileptic encephalopathy 5
SPTB	Anemia, neonatal hemolytic Elliptocytosis-3 Spherocytosis, type 2
SPTBN2	Spinocerebellar ataxia 5 Spinocerebellar ataxia, autosomal recessive 14
SPTBN4	Neurodevelopmental disorder with hypotonia, neuropathy	SPTBN4 Disorder
SPTLC1	Neuropathy, hereditary sensory and autonomic	Charcot-Marie-Tooth Hereditary Neuropathy Overview SPTLC1-Related Hereditary Sensory Neuropathy
SPTLC2	Neuropathy, hereditary sensory and autonomic
SRCAP	Developmental delay, hypotonia Floating-Harbor syndrome	Floating-Harbor Syndrome
SRD5A3	Congenital disorder of glycosylation, type Iq Kahrizi syndrome	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
SRP54	Neutropenia, severe congenital	Shwachman-Diamond Syndrome
SRY	46XX sex reversal 1 46XY sex reversal 1	Nonsyndromic 46,XX Testicular Disorders of Sex Development Nonsyndromic Disorders of Testicular Development
SSR4	Congenital disorder of glycosylation, type Iy	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
ST14	Ichthyosis, congenital
ST3GAL3	Developmental and epileptic encephalopathy 15 Intellectual developmental disorder, autosomal recessive 12
ST3GAL5
STAG1	Mental retardation, autosomal dominant 47
STAG2	Holoprosencephaly 13, X-linked Mullegama-Klein-Martinez syndrome
STAMBP	Microcephaly-capillary malformation syndrome	Microcephaly-Capillary Malformation Syndrome
STAR	Lipoid adrenal hyperplasia STAR syndrome
STAT2	Immunodeficiency 44 Pseudo-TORCH syndrome 3
STAT3	Autoimmune disease, multisystem Hyper-IgE recurrent infection syndrome	STAT3 Hyper IgE Syndrome
STAT5B	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Growth hormone insensitivity with immune dysregulation 2, autosomal dominant Leukemia, acute promyelocytic
STIL	Microcephaly 7, primary
STIM1	Immunodeficiency 10 Myopathy, tubular aggregate Stormorken syndrome
STK11	Melanoma, malignant Pancreatic cancer, somatic Peutz-Jeghers syndrome Testicular tumor, somatic	Peutz-Jeghers Syndrome
STRA6	Microphthalmia, isolated Microphthalmia, syndromic 9
STRADA	Polyhydramnios, megalencephaly
STRC	Deafness, autosomal recessive 16	Hereditary Hearing Loss and Deafness Overview CATSPER-Related Male Infertility
STS	Ichthyosis, X-linked
STX11	Hemophagocytic lymphohistiocytosis, familial	Familial Hemophagocytic Lymphohistiocytosis
STX1B	Generalized epilepsy with febrile seizures plus, type 9
STXBP1	Developmental and epileptic encephalopathy 4	STXBP1 Encephalopathy with Epilepsy
STXBP2	Hemophagocytic lymphohistiocytosis, familial	Familial Hemophagocytic Lymphohistiocytosis
SUCLA2	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
SUCLG1	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
SUMF1	Multiple sulfatase deficiency	Multiple Sulfatase Deficiency
SUOX	Sulfite oxidase deficiency	Isolated Sulfite Oxidase Deficiency
SURF1	Charcot-Marie-Tooth disease, type 4K Mitochondrial complex IV deficiency, nuclear type 1	Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview
SUZ12	Imagawa-Matsumoto syndrome
SVBP	Neurodevelopmental disorder with ataxia, hypotonia
SYN1	Epilepsy, X-linked Intellectual developmental disorder, X-linked 50
SYNE1	Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8	SYNE1 Deficiency
SYNGAP1	Mental retardation, autosomal dominant 5	SYNGAP1-Related Intellectual Disability
SYNJ1	Developmental and epileptic encephalopathy 53 Parkinson disease 20, early-onset
SYP	Intellectual developmental disorder, X-linked 96
SYT1	Baker-Gordon syndrome
SZT2	Developmental and epileptic encephalopathy 18
TAB2	Congenital heart defects, nonsyndromic
TAC3	Hypogonadotropic hypogonadism 10 with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
TACR3	Hypogonadotropic hypogonadism 11 with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
TAF1	Dystonia-Parkinsonism, X-linked Intellectual developmental disorder, X-linked syndromic 33	X-Linked Dystonia-Parkinsonism Syndrome
TAF13	Mental retardation, autosomal recessive 60
TAF2	Intellectual developmental disorder, autosomal recessive 40
TAF6	Alazami-Yuan syndrome
TANGO2	Metabolic encephalomyopathic crises, recurrent	TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TASP1	Suleiman-El-Hattab syndrome
TAT	Tyrosinemia, type II
TAZ	Barth syndrome
TBC1D20	Warburg micro syndrome 4	RAB18 Deficiency
TBC1D23	Pontocerebellar hypoplasia, type 11
TBC1D24	DOORS syndrome Deafness, autosomal dominant 65 Deafness, autosomal recessive 86 Developmental and epileptic encephalopathy 16 Epilepsy, rolandic Myoclonic epilepsy, infantile	TBC1D24-Related Disorders
TBCD	Encephalopathy, progressive
TBCE	Encephalopathy, progressive Hypoparathyroidism-retardation-dysmorphism syndrome Kenny-Caffey syndrome, type 1
TBCK	Hypotonia, infantile
TBL1XR1	Mental retardation, autosomal dominant 41 Pierpont syndrome
TBR1	Intellectual developmental disorder with autism and speech delay
TBX1	Conotruncal anomaly face syndrome DiGeorge syndrome Tetralogy of Fallot Velocardiofacial syndrome	22q11.2 Deletion Syndrome
TBX15	Cousin syndrome
TBX18	Congenital anomalies of kidney and urinary tract 2
TBX20	Atrial septal defect 4
TBX22	Cleft palate with ankyloglossia
TBX3	Ulnar-mammary syndrome
TBX4	Amelia, posterior Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
TBX5	Holt-Oram syndrome	Holt-Oram Syndrome
TBXAS1	Ghosal hematodiaphyseal syndrome
TCAP	Cardiomyopathy, hypertrophic Muscular dystrophy, limb-girdle	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
TCF12	Craniosynostosis 3 Hypogonadotropic hypogonadism 26 with or without anosmia
TCF20	Developmental delay with variable intellectual impairment and behavioral abnormalities
TCF4	Corneal dystrophy, Fuchs endothelial Pitt-Hopkins syndrome	Pitt-Hopkins Syndrome
TCIRG1	Osteopetrosis, autosomal recessive 1
TCN2	Transcobalamin II deficiency
TCOF1	Treacher Collins syndrome 1	Treacher Collins Syndrome
TCTN1	Joubert Syndrome
TCTN2	Joubert syndrome 24	Joubert Syndrome
TCTN3	Joubert syndrome 18 Orofaciodigital syndrome IV	Joubert Syndrome
TECPR2	Neuropathy, hereditary sensory and autonomic
TECTA	Deafness, autosomal dominant 8/12 Deafness, autosomal recessive 21	Hereditary Hearing Loss and Deafness Overview
TEK	Glaucoma 3, primary congenital Venous malformations, multiple cutaneous and mucosal	Primary Congenital Glaucoma Multiple Cutaneous and Mucosal Venous Malformations
TELO2	You-Hoover-Fong syndrome
TERC	Dyskeratosis congenita, autosomal dominant 1	Pulmonary Fibrosis Predisposition Overview Dyskeratosis Congenita
TERT	Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal recessive 4 Pulmonary fibrosis and/or bone marrow failure, telomere-related	Pulmonary Fibrosis Predisposition Overview Dyskeratosis Congenita
TFAP2A	Branchiooculofacial syndrome	Branchiooculofacial Syndrome
TFAP2B	Char syndrome Patent ductus arteriosus 2	Char Syndrome
TFG	Hereditary motor and sensory neuropathy, Okinawa type
TG	Thyroid dyshormonogenesis 3
TGDS	Catel-Manzke syndrome
TGFB1	Camurati-Engelmann disease Inflammatory bowel disease, immunodeficiency	Camurati-Engelmann Disease
TGFB2	Loeys-Dietz syndrome 4	Loeys-Dietz Syndrome
TGFB3	Arrhythmogenic right ventricular dysplasia 1 Loeys-Dietz syndrome 5	Arrhythmogenic Right Ventricular Cardiomyopathy Loeys-Dietz Syndrome
TGFBR1	Loeys-Dietz syndrome 1	Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome
TGFBR2	Colorectal cancer, hereditary nonpolyposis Esophageal cancer, somatic Loeys-Dietz syndrome 2	Heritable Thoracic Aortic Disease Overview Loeys-Dietz Syndrome
TGIF1	Holoprosencephaly 4	Holoprosencephaly Overview
TGM1	Ichthyosis, congenital	Autosomal Recessive Congenital Ichthyosis
TGM5	Peeling skin syndrome 2	Epidermolysis Bullosa Simplex
TH	Segawa syndrome, recessive	Tyrosine Hydroxylase Deficiency
THAP1	Dystonia 6, torsion
THOC2	Intellectual developmental disorder, X-linked 12
THOC6	Beaulieu-Boycott-Innes syndrome	THOC6 Intellectual Disability Syndrome
THRA	Hypothyroidism, congenital
THRB	Thyroid hormone resistance Thyroid hormone resistance, autosomal recessive Thyroid hormone resistance, selective pituitary
TIMM8A	Mohr-Tranebjaerg syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
TINF2	Dyskeratosis congenita, autosomal dominant 3 Revesz syndrome	Dyskeratosis Congenita
TJP2	Cholestasis, progressive familial intrahepatic 4 Hypercholanemia, familial 1
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type)	TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
TKT	Short stature, developmental delay Spondylometaepiphyseal dysplasia, short limb-hand type Warburg-Cinotti syndrome
TLK2	Intellectual developmental disorder, autosomal dominant 57
TMC1	Deafness, autosomal dominant 36 Deafness, autosomal recessive 7	Hereditary Hearing Loss and Deafness Overview
TMCO1	Craniofacial dysmorphism, skeletal anomalies
TMEM107	Meckel syndrome 13 Orofaciodigital syndrome XVI	Joubert Syndrome
TMEM126B	Mitochondrial complex I deficiency, nuclear type 29
TMEM127	Hereditary Paraganglioma-Pheochromocytoma Syndromes
TMEM138	Joubert syndrome 16	Joubert Syndrome
TMEM165	Congenital disorder of glycosylation, type IIk	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
TMEM199	Congenital disorder of glycosylation, type IIp
TMEM216	Joubert syndrome 2 Meckel syndrome 2	Joubert Syndrome
TMEM231	Joubert syndrome 20 Meckel syndrome 11	Joubert Syndrome
TMEM237	Joubert syndrome 14	Joubert Syndrome
TMEM43	Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7, AD	Arrhythmogenic Right Ventricular Cardiomyopathy
TMEM67	COACH syndrome 1 Joubert syndrome 6 Meckel syndrome 3 Nephronophthisis 11	Joubert Syndrome Nephronophthisis
TMEM70	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMEM94	Intellectual developmental disorder with cardiac defects and dysmorphic facies
TMIE	Deafness, autosomal recessive 6	Hereditary Hearing Loss and Deafness Overview
TMPRSS3	Deafness, autosomal recessive 8/10	Hereditary Hearing Loss and Deafness Overview
TMPRSS6	Iron-refractory iron deficiency anemia
TMTC3	Lissencephaly 8
TMX2	Neurodevelopmental disorder with microcephaly, cortical malformations
TNFRSF11B	Paget disease of bone 5, juvenile-onset
TNFRSF13B	Immunodeficiency, common variable Immunoglobulin A deficiency 2
TNFSF11	Osteopetrosis, autosomal recessive 2
TNNC1	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic	Hypertrophic Cardiomyopathy Overview
TNNI2	Arthrogryposis, distal
TNNI3	Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic	Hypertrophic Cardiomyopathy Overview
TNNT1	Nemaline myopathy 5, Amish type
TNNT2	Cardiomyopathy, dilated Cardiomyopathy, familial restrictive Cardiomyopathy, hypertrophic Left ventricular noncompaction 6	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
TNNT3	Arthrogryposis, distal
TOE1	Pontocerebellar hypoplasia, type 7
TOP3A	Microcephaly, growth restriction
TP53	Bone marrow failure syndrome 5 Breast cancer, somatic Hepatocellular carcinoma, somatic Li-Fraumeni syndrome Nasopharyngeal carcinoma, somatic Pancreatic cancer, somatic 260350 (3)	Wilms Tumor Predisposition Li-Fraumeni Syndrome
TP63	ADULT syndrome Ectrodactyly, ectodermal dysplasia Hay-Wells syndrome Limb-mammary syndrome Orofacial cleft 8 Rapp-Hodgkin syndrome Split-hand/foot malformation 4	TP63-Related Disorders
TPI1	Hemolytic anemia due to triosephosphate isomerase deficiency
TPK1	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPM1	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic Left ventricular noncompaction 9	Dilated Cardiomyopathy Overview Hypertrophic Cardiomyopathy Overview
TPM2	Arthrogryposis, distal Arthrogryposis, distal CAP myopathy 2 Nemaline myopathy 4, autosomal dominant
TPM3	CAP myopathy 1 Myopathy, congenital Nemaline myopathy 1, autosomal dominant or recessive
TPO	Thrombocythemia 1 Thyroid dyshormonogenesis 2A
TPP1	Ceroid lipofuscinosis, neuronal Spinocerebellar ataxia, autosomal recessive 7
TRAPPC11	Muscular dystrophy, limb-girdle
TRAPPC2	Spondyloepiphyseal dysplasia tarda	X-Linked Spondyloepiphyseal Dysplasia Tarda
TRAPPC4	Neurodevelopmental disorder with epilepsy, spasticity
TRAPPC9	Mental retardation, autosomal recessive 13
TRDN	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	Catecholaminergic Polymorphic Ventricular Tachycardia
TREX1	Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus Vasculopathy, retinal	Aicardi-Goutieres Syndrome Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
TRIM2	Charcot-Marie-Tooth disease, type 2R	Charcot-Marie-Tooth Hereditary Neuropathy Overview
TRIM32	Muscular dystrophy, limb-girdle	Bardet-Biedl Syndrome Overview
TRIM37	Mulibrey nanism
TRIO	Intellectual developmental disorder, autosomal dominant 44 Intellectual developmental disorder, autosomal dominant 63	TRIO-Related Intellectual Disability
TRIOBP	Deafness, autosomal recessive 28	Hereditary Hearing Loss and Deafness Overview
TRIP11	Achondrogenesis, type IA Odontochondrodysplasia 1
TRIP12	Mental retardation, autosomal dominant 49
TRIP13	Mosaic variegated aneuploidy syndrome 3 Oocyte maturation defect 9
TRIP4	Spinal muscular atrophy with congenital bone fractures 1
TRIT1	Combined oxidative phosphorylation deficiency 35
TRMT1	Intellectual developmental disorder, autosomal recessive 68
TRMT10A	Microcephaly, short stature
TRMU	Liver failure, transient infantile
TRNT1	Retinitis pigmentosa and erythrocytic microcytosis Sideroblastic anemia with B-cell immunodeficiency, periodic fevers
TRPM1	Night blindness, congenital stationary (complete)
TRPM4	Erythrokeratodermia veriabilis et progressiva 6 Progressive familial heart block, type IB	Brugada Syndrome
TRPM6	Hypomagnesemia 1, intestinal
TRPS1	Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III	Trichorhinophalangeal Syndrome
TRPV3	Olmsted syndrome 1
TRPV4	Brachyolmia type 3 Digital arthropathy-brachydactyly, familial Hereditary motor and sensory neuropathy, type IIc Metatropic dysplasia Neuronopathy, distal hereditary motor Parastremmatic dwarfism SED, Maroteaux type Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type	Autosomal Dominant TRPV4 Disorders
TRPV6	Hyperparathyroidism, transient neonatal	Pancreatitis Overview
TRRAP	Developmental delay with or without dysmorphic facies and autism
TSC1	Focal cortical dysplasia, type II Lymphangioleiomyomatosis Tuberous sclerosis-1	Tuberous Sclerosis Complex
TSC2	Lymphangioleiomyomatosis, somatic Tuberous sclerosis-2	Tuberous Sclerosis Complex
TSEN15	Pontocerebellar hypoplasia, type 2F
TSEN2	Pontocerebellar hypoplasia type 2B
TSEN54	Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 4	TSEN54 Pontocerebellar Hypoplasia
TSFM	Combined oxidative phosphorylation deficiency 3
TSHB	Hypothyroidism, congenital
TSHR	Hyperthyroidism, familial gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital Thyroid adenoma, hyperfunctioning Thyroid carcinoma with thyrotoxicosis, somatic (3)
TSPAN7	Intellectual developmental disorder, X-linked 58
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome
TTC19	Mitochondrial complex III deficiency, nuclear type 2
TTC21B	Nephronophthisis 12 Short-rib thoracic dysplasia 4 with or without polydactyly	Joubert Syndrome Nephronophthisis
TTC37	Trichohepatoenteric syndrome 1	Trichohepatoenteric Syndrome
TTC7A	Gastrointestinal defects and immunodeficiency syndrome
TTC8	Bardet-Biedl syndrome 8	Bardet-Biedl Syndrome Overview Nonsyndromic Retinitis Pigmentosa Overview
TTN	Cardiomyopathy, dilated Cardiomyopathy, familial hypertrophic Muscular dystrophy, limb-girdle Myopathy, myofibrillar Salih myopathy Tibial muscular dystrophy, tardive	Dilated Cardiomyopathy Overview Udd Distal Myopathy - Tibial Muscular Dystrophy Salih Myopathy Hereditary Myopathy with Early Respiratory Failure
TTPA	Ataxia with isolated vitamin E deficiency	Ataxia with Vitamin E Deficiency
TTR	Amyloidosis, hereditary Carpal tunnel syndrome, familial	Hereditary Transthyretin Amyloidosis
TUBA1A	Lissencephaly 3	Tubulinopathies Overview
TUBA8
TUBB	Cortical dysplasia, complex Symmetric circumferential skin creases, congenital	Tubulinopathies Overview
TUBB2A	Cortical dysplasia, complex	Tubulinopathies Overview
TUBB2B	Cortical dysplasia, complex	Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview
TUBB3	Cortical dysplasia, complex Fibrosis of extraocular muscles, congenital	Congenital Fibrosis of the Extraocular Muscles Overview Tubulinopathies Overview
TUBB4A	Dystonia 4, torsion Leukodystrophy, hypomyelinating	TUBB4A-Related Leukodystrophy
TUBG1	Cortical dysplasia, complex
TUBGCP2	Pachygyria, microcephaly
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive
TUFM	Combined oxidative phosphorylation deficiency 4
TUSC3	Mental retardation, autosomal recessive 7	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
TWIST1	Craniosynostosis 1 Robinow-Sorauf syndrome Saethre-Chotzen syndrome with or without eyelid anomalies Sweeney-Cox syndrome	Saethre-Chotzen Syndrome
TWIST2	Ablepharon-macrostomia syndrome Barber-Say syndrome Focal facial dermal dysplasia 3, Setleis type
TWNK	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Perrault syndrome 5 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	Infantile-Onset Spinocerebellar Ataxia Perrault Syndrome
TXNL4A	Burn-McKeown syndrome	Burn-McKeown Syndrome
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	Mitochondrial Neurogastrointestinal Encephalopathy Disease
TYR	Albinism, oculocutaneous Albinism, oculocutaneous Waardenburg syndrome/albinism, digenic
TYRP1	Albinism, oculocutaneous
UBA1	Spinal muscular atrophy, X-linked 2 VEXAS syndrome, somatic	Spinal Muscular Atrophy, X-Linked Infantile
UBA5	Developmental and epileptic encephalopathy 44
UBE2A	Intellectual developmental disorder, X-linked syndromic
UBE2T	Fanconi anemia, complementation group T	Fanconi Anemia
UBE3A	Angelman syndrome	Angelman Syndrome Prader-Willi Syndrome
UBE3B	Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome
UBR1	Johanson-Blizzard syndrome	Pancreatitis Overview
UBTF	Neurodegeneration, childhood-onset
UFC1	Neurodevelopmental disorder with spasticity and poor growth
UFM1	Leukodystrophy, hypomyelinating
UGDH	Developmental and epileptic encephalopathy 84
UGP2	Developmental and epileptic encephalopathy 83
UGT1A1	Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II Hyperbilirubinemia, familial transient neonatal
UMOD	Tubulointerstitial kidney disease, autosomal dominant	Autosomal Dominant Tubulointerstitial Kidney Disease -- UMOD
UMPS	Orotic aciduria
UNC13D	Hemophagocytic lymphohistiocytosis, familial	Familial Hemophagocytic Lymphohistiocytosis
UNC80	Hypotonia, infantile	UNC80 Deficiency
UPB1	Beta-ureidopropionase deficiency
UPF3B	Intellectual developmental disorder, X-linked syndromic 14
UQCC2	Mitochondrial complex III deficiency, nuclear type 7
UQCRC2	Mitochondrial complex III deficiency, nuclear type 5
UROC1
UROD	Porphyria cutanea tarda Porphyria, hepatoerythropoietic	Familial Porphyria Cutanea Tarda Hepatoerythropoietic Porphyria
UROS	Porphyria, congenital erythropoietic	Congenital Erythropoietic Porphyria
USB1	Poikiloderma with neutropenia	Poikiloderma with Neutropenia
USH1C	Deafness, autosomal recessive 18A Usher syndrome, type 1C	Usher Syndrome Type I Hereditary Hearing Loss and Deafness Overview
USH1G	Usher syndrome, type 1G	Usher Syndrome Type I
USH2A	Retinitis pigmentosa 39 Usher syndrome, type 2A	Usher Syndrome Type II Nonsyndromic Retinitis Pigmentosa Overview
USP18	Pseudo-TORCH syndrome 2
USP9X	Intellectual developmental disorder, X-linked 99 Intellectual developmental disorder, X-linked 99
UVSSA	UV-sensitive syndrome 3
VAMP1	Myasthenic syndrome, congenital Spastic ataxia 1, autosomal dominant
VAMP2	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
VANGL1	Caudal regression syndrome
VARS2	Combined oxidative phosphorylation deficiency 20 Neurodevelopmental disorder with microcephaly, seizures
VCAN	Wagner syndrome 1	VCAN-Related Vitreoretinopathy
VCL	Cardiomyopathy, dilated Cardiomyopathy, hypertrophic	Dilated Cardiomyopathy Overview
VCP	Charcot-Marie-Tooth disease, type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
VDR	Rickets, vitamin D-resistant
VHL	Erythrocytosis, familial Hemangioblastoma, cerebellar Pheochromocytoma Renal cell carcinoma, somatic von Hippel-Lindau syndrome	Von Hippel-Lindau Syndrome
VIPAS39	Arthrogryposis, renal dysfunction
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	VLDLR Cerebellar Hypoplasia
VPS13A	Choreoacanthocytosis	Chorea-Acanthocytosis
VPS13B	Cohen syndrome	Cohen Syndrome
VPS33B	Arthrogryposis, renal dysfunction
VPS37A	Spastic paraplegia 53, autosomal recessive
VPS45	Neutropenia, severe congenital
VPS53	Pontocerebellar hypoplasia, type 2E
VRK1	Pontocerebellar hypoplasia type 1A
VSX2
VWF	von Willebrand disease, type 1 von Willebrand disease, type 3 von Willebrand disease, types 2A	von Willebrand Disease
WAC	Desanto-Shinawi syndrome	WAC-Related Intellectual Disability
WAS	Neutropenia, severe congenital Thrombocytopenia, X-linked Thrombocytopenia, X-linked Wiskott-Aldrich syndrome	WAS-Related Disorders
WASF1	Neurodevelopmental disorder with absent language and variable seizures
WDFY3
WDPCP	Congenital heart defects, hamartomas of tongue	Bardet-Biedl Syndrome Overview
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia	Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
WDR19	Nephronophthisis 13 Senior-Loken syndrome 8	Cranioectodermal Dysplasia Nephronophthisis
WDR26	Skraban-Deardorff syndrome	WDR26-Related Intellectual Disability
WDR35	Cranioectodermal dysplasia 2 Short-rib thoracic dysplasia 7 with or without polydactyly	Cranioectodermal Dysplasia
WDR37	Neurooculocardiogenitourinary syndrome
WDR45	Neurodegeneration with brain iron accumulation 5	Neurodegeneration with Brain Iron Accumulation Disorders Overview Beta-Propeller Protein-Associated Neurodegeneration
WDR45B	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
WDR62	Microcephaly 2, primary	WDR62 Primary Microcephaly
WDR73	Galloway-Mowat syndrome 1
WDR81	Cerebellar ataxia, mental retardation Hydrocephalus, congenital
WFS1	Deafness, autosomal dominant 6/14/38 Wolfram syndrome 1 Wolfram-like syndrome, autosomal dominant	Hereditary Hearing Loss and Deafness Overview WFS1 Wolfram Syndrome Spectrum Disorder
WHRN	Deafness, autosomal recessive 31 Usher syndrome, type 2D	Usher Syndrome Type II Hereditary Hearing Loss and Deafness Overview
WNK1	Neuropathy, hereditary sensory and autonomic Pseudohypoaldosteronism, type IIC	Hereditary Sensory and Autonomic Neuropathy Type II Pseudohypoaldosteronism Type II
WNT1	Osteogenesis imperfecta, type XV
WNT10A	Odontoonychodermal dysplasia Schopf-Schulz-Passarge syndrome Tooth agenesis, selective	Hypohidrotic Ectodermal Dysplasia
WNT10B	Split-hand/foot malformation 6 Tooth agenesis, selective
WNT3
WNT4	Mullerian aplasia and hyperandrogenism
WNT5A	Robinow syndrome, autosomal dominant 1	Autosomal Dominant Robinow Syndrome
WNT7A	Fuhrmann syndrome Ulna and fibula, absence of
WRAP53	Dyskeratosis congenita, autosomal recessive 3	Dyskeratosis Congenita
WRN	Werner syndrome	Werner Syndrome
WT1	Denys-Drash syndrome Frasier syndrome Meacham syndrome Mesothelioma, somatic Nephrotic syndrome, type 4 Wilms tumor, type 1	Wilms Tumor Predisposition PAX6-Related Aniridia WT1 Disorder
WWOX	Developmental and epileptic encephalopathy 28 Esophageal squamous cell carcinoma, somatic Spinocerebellar ataxia, autosomal recessive 12
XIAP	Lymphoproliferative syndrome, X-linked	Lymphoproliferative Disease, X-Linked
XPA	Xeroderma pigmentosum, group A	Xeroderma Pigmentosum
XPC	Xeroderma pigmentosum, group C	Xeroderma Pigmentosum
XRCC4	Short stature, microcephaly
XYLT1	Desbuquois dysplasia 2
XYLT2	Spondyloocular syndrome
YAP1	Coloboma, ocular
YARS2	Myopathy, lactic acidosis
YIF1B	Kaya-Barakat-Masson syndrome
YWHAG	Developmental and epileptic encephalopathy 56
YY1	Gabriele-de Vries syndrome	Gabriele-de Vries Syndrome
ZAP70	Autoimmune disease, multisystem Immunodeficiency 48	ZAP70-Related Combined Immunodeficiency
ZBTB18	Mental retardation, autosomal dominant 22
ZBTB20	Primrose syndrome	Primrose Syndrome
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome 2
ZC3H14	Intellectual developmental disorder, autosomal recessive 56
ZC4H2	Wieacker-Wolff syndrome Wieacker-Wolff syndrome, female-restricted
ZDHHC9	Mental retardation, X-linked syndromic
ZEB2	Mowat-Wilson syndrome	Mowat-Wilson Syndrome
ZFP57	Diabetes mellitus, transient neonatal 1	Diabetes Mellitus, 6q24-Related Transient Neonatal
ZFPM2	46XY sex reversal 9 Diaphragmatic hernia 3 Tetralogy of Fallot
ZFYVE26	Spastic paraplegia 15, autosomal recessive	Spastic Paraplegia 15
ZIC1	Structural brain anomalies with impaired intellectual development and craniosynostosis
ZIC2	Holoprosencephaly 5	Holoprosencephaly Overview
ZIC3	Congenital heart defects, nonsyndromic Heterotaxy, visceral VACTERL association, X-linked
ZMIZ1	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
ZMPSTE24	Mandibuloacral dysplasia with type B lipodystrophy Restrictive dermopathy, lethal
ZMYND10	Ciliary dyskinesia, primary	Primary Ciliary Dyskinesia
ZMYND11	Mental retardation, autosomal dominant 30
ZNF335	Microcephaly 10, primary
ZNF423	Joubert syndrome 19 Nephronophthisis 14	Joubert Syndrome Nephronophthisis
ZNF462	Weiss-Kruszka syndrome	Weiss-Kruszka Syndrome
ZNF469	Brittle cornea syndrome 1
ZNHIT3	PEHO syndrome
ADAMTS19
ADPRHL2	Neurodegeneration, childhood-onset
AGR2
ATP5MD
BCKDK	Branched-chain keto acid dehydrogenase kinase deficiency
BRD4	Cornelia de Lange Syndrome
C15orf41	Dyserythropoietic anemia, congenital
CCDC114	Ciliary dyskinesia, primary
CCDC151	Ciliary dyskinesia, primary
CD2AP	Glomerulosclerosis, focal segmental
CLCNKA	Bartter syndrome, type 4b
CNKSR2	Intellectual developmental disorder, X-linked
CSNK1E
Cxorf56
EMC10	Neurodevelopmental disorder with dysmorphic facies and variable seizures
EMX2	Schizencephaly
EXOC3L2
GOLGA2
HACD1
IMPAD1	Chondrodysplasia with joint dislocations, GPAPP type
IPO8	VISS syndrome
KARS	Deafness, autosomal recessive 89 Deafness, congenital Leukoencephalopathy, progressive
NUDT2
PIH1D3	Ciliary dyskinesia, primary
PPP1R21	Neurodevelopmental disorder with hypotonia, facial dysmorphism
RAB11A
RHOA	Ectodermal dysplasia with facial dysmorphism and acral, ocular
SCAMP5
SHANK1
SHROOM4	Intellectual developmental disorder, X-linked syndromic
SLC26A7
TAOK1	Developmental delay with or without intellectual impairment or behavioral abnormalities
TTC26	Biliary, renal
USP53	Cholestasis, progressive familial intrahepatic
VPS41	Spinocerebellar ataxia, autosomal recessive 29
WDR34	Short-rib thoracic dysplasia 11 with or without polydactyly
WDR60	Short-rib thoracic dysplasia 8 with or without polydactyly
ZNF711	Intellectual developmental disorder, X-linked 97

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