Psykisk utviklingshemming og andre utviklingsavvik

Genpanel, versjon v04

Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC >x10 Andel av genet som har blitt lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering x10 er forventet dekning; faktisk dekning vil variere.

Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AAAS 13666 NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM

AARS 20 NM_001605.2 100% Charcot-Marie-Tooth disease, axonal, type 2N OMIM Epileptic encephalopathy, early infantile, 29 OMIM

AASS 17366 NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM

ABCB11 42 NM_003742.2 100% Cholestasis, benign recurrent intrahepatic, 2 OMIM Cholestasis, progressive familial intrahepatic 2 OMIM

ABCB7 48 NM_004299.5 100% Anemia, sideroblastic, with ataxia OMIM

ABCC6 57 NM_001171.5 93% Arterial calcification, generalized, of infancy, 2 OMIM Pseudoxanthoma elasticum OMIM Pseudoxanthoma elasticum, forme fruste OMIM ABCC9 60 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM

ABCD1 61 NM_000033.3 77% Adrenoleukodystrophy OMIM Adrenomyeloneuropathy, adult OMIM

ABCD4 68 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM

ABHD5 21396 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM

ACAD9 21497 NM_014049.4 99% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM

ACADM 89 NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM

ACADS 90 NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM

ACADVL 92 NM_000018.3 100% VLCAD deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ACAN 319 NM_013227.3 84% ?Spondyloepimetaphyseal dysplasia, aggrecan type OMIM Osteochondritis dissecans, short stature, and early-onset osteoarthritis OMIM Spondyloepiphyseal dysplasia, Kimberley type OMIM ACAT1 93 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM

ACO2 118 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM

ACOX1 119 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM

ACP5 124 NM_001111035.2 100% Spondyloenchondrodysplasia with immune dysregulation OMIM

ACSL4 3571 NM_004458.2 99% Mental retardation, X-linked 63 OMIM

ACTA1 129 NM_001100.3 100% Myopathy, actin, congenital, with cores OMIM Myopathy, actin, congenital, with excess of thin myofilaments OMIM Myopathy, congenital, with fiber-type disproportion 1 OMIM Nemaline myopathy 3, autosomal dominant or recessive OMIM ACTA2 130 NM_001613.2 100% Aortic aneurysm, familial thoracic 6 OMIM Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM ACTB 132 NM_001101.3 99% Baraitser-Winter syndrome 1 OMIM

ACTG1 144 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM

ACVR1 171 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM

ACVR2B 174 NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM

ACY1 177 NM_000666.2 100% Aminoacylase 1 deficiency OMIM

ADA 186 NM_000022.3 100% Adenosine deaminase deficiency, partial OMIM Severe combined immunodeficiency due to ADA deficiency OMIM ADAR 225 NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM

ADCK3 16812 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ADK 257 NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM

ADNP 15766 NM_015339.4 100% Helsmoortel-van der Aa syndrome OMIM

ADRA2B 282 NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM

ADSL 291 NM_000026.3 100% Adenylosuccinase deficiency OMIM

AFF2 3776 NM_002025.3 99% Mental retardation, X-linked, FRAXE type OMIM

AFF3 6473 NM_002285.2 98% Skeletal dysplasia with severe neurologic disease

AFF4 17869 NM_014423.3 100% CHOPS syndrome OMIM

AFG3L2 315 NM_006796.2 96% Spinocerebellar ataxia 28 OMIM Spastic ataxia 5, autosomal recessive OMIM

AGA 318 NM_000027.3 100% Aspartylglucosaminuria OMIM

AGK 21869 NM_018238.3 100% Cataract 38, autosomal recessive OMIM Sengers syndrome OMIM

AGL 321 NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM

AGPS 327 NM_003659.3 99% Rhizomelic chondrodysplasia punctata, type 3 OMIM

AGXT 341 NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM

AHDC1 25230 NM_001029882.3 99% Xia-Gibbs syndrome OMIM

AHI1 21575 NM_017651.4 100% Joubert syndrome 3 OMIM

AIFM1 8768 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 10648 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM

AIPL1 359 NM_014336.4 100% Cone-rod dystrophy OMIM Leber congenital amaurosis 4 OMIM Retinitis pigmentosa, juvenile OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) AIRE 360 NM_000383.3 100% Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia OMIM

AK2 362 NM_001625.3 100% Reticular dysgenesis OMIM

AKR1D1 388 NM_005989.3 99% Bile acid synthesis defect, congenital, 2 OMIM

AKT1 391 NM_005163.2 99% Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM

AKT3 393 NM_005465.4 99% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 2 OMIM

ALAD 395 NM_000031.5 100% Porphyria, acute hepatic OMIM

ALDH18A1 9722 NM_002860.3 100% Cutis laxa, autosomal dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH1A3 409 NM_000693.3 100% Microphthalmia, isolated 8 OMIM

ALDH3A2 403 NM_000382.2 100% Sjogren-Larsson syndrome OMIM

ALDH4A1 406 NM_003748.3 100% Hyperprolinemia, type II OMIM

ALDH5A1 408 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM

ALDH7A1 877 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM

ALDOA 414 NM_000034.3 100% Glycogen storage disease XII OMIM

ALDOB 417 NM_000035.3 100% Fructose intolerance, hereditary OMIM

ALG1 18294 NM_019109.4 55% Congenital disorder of glycosylation, type Ik OMIM

ALG11 32456 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM

ALG12 19358 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ALG13 30881 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM

ALG2 23159 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 23056 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM

ALG6 23157 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM

ALG8 23161 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM

ALG9 15672 NM_024740.2 99% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM

ALMS1 428 NM_015120.4 99% Alstrom syndrome OMIM

ALPL 438 NM_000478.5 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALS2 443 NM_020919.3 100% Amyotrophic lateral sclerosis 2, juvenile OMIM Primary lateral sclerosis, juvenile OMIM Spastic paralysis, infantile onset ascending OMIM ALX1 1494 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM

ALX3 449 NM_006492.2 92% Frontonasal dysplasia 1 OMIM

ALX4 450 NM_021926.3 99% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM

AMER1 26837 NM_152424.3 99% Osteopathia striata with cranial sclerosis OMIM

AMPD2 469 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM

AMT 473 NM_000481.3 100% Glycine encephalopathy OMIM

ANKH 15492 NM_054027.4 100% Chondrocalcinosis 2 OMIM Craniometaphyseal dysplasia OMIM

ANKRD11 21316 NM_013275.5 97% KBG syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ANKRD26 29186 NM_014915.2 98% Thrombocytopenia 2 OMIM

ANO5 27337 NM_213599.2 100% Gnathodiaphyseal dysplasia OMIM Miyoshi muscular dystrophy 3 OMIM Muscular dystrophy, limb-girdle, type 2L OMIM ANTXR1 21014 NM_032208.2 98% GAPO syndrome OMIM

AP1S2 560 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM

AP3B2 567 NM_004644.4 99% Epileptic encephalopathy, early infantile, 48 OMIM

AP4B1 572 NM_006594.4 100% Spastic paraplegia 47, autosomal recessive OMIM

AP4E1 573 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM Stuttering, familial persistent, 1 OMIM

AP4M1 574 NM_004722.3 100% Spastic paraplegia 50, autosomal recessive OMIM

AP4S1 575 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM

APOA1BP 18453 NM_144772.2 100% Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy OMIM

APOPT1 20492 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM

APTX 15984 NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM

AR 644 NM_000044.4 98% Androgen insensitivity OMIM Androgen insensitivity, partial, with or without breast cancer OMIM Hypospadias 1, X-linked OMIM Spinal and bulbar muscular atrophy of Kennedy OMIM ARCN1 649 NM_001655.4 100% Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM

ARFGEF2 15853 NM_006420.2 99% Periventricular heterotopia with microcephaly OMIM

ARG1 663 NM_000045.3 100% Argininemia OMIM

ARHGAP31 29216 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ARHGEF6 685 NM_004840.2 100% Mental retardation, X-linked 46 OMIM

ARHGEF9 14561 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM

ARID1A 11110 NM_006015.4 98% Coffin-Siris syndrome 2 OMIM

ARID1B 18040 NM_020732.3 99% Coffin-Siris syndrome 1 OMIM

ARID2 18037 NM_152641.3 99% ARID2-Coffin-Siris Like Disorder

ARL6 13210 NM_177976.3 100% Bardet-Biedl syndrome 3 OMIM

ARMC4 25583 NM_018076.4 94% Ciliary dyskinesia, primary, 23 OMIM

ARSA 713 NM_000487.5 100% Metachromatic leukodystrophy OMIM

ARSB 714 NM_000046.3 100% Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM

ARSE 719 NM_000047.2 99% Chondrodysplasia punctata, X-linked recessive OMIM

ARX 18060 NM_139058.2 87% Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ASAH1 735 NM_177924.4 100% Farber lipogranulomatosis OMIM Spinal muscular atrophy with progressive myoclonic epilepsy OMIM ASL 746 NM_000048.3 99% Argininosuccinic aciduria OMIM

ASPA 756 NM_000049.2 100% Canavan disease OMIM

ASPH 757 NM_004318.3 100% Traboulsi syndrome OMIM

ASPM 19048 NM_018136.4 99% Microcephaly 5, primary, autosomal recessive OMIM

ASS1 758 NM_000050.4 98% Citrullinemia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ASXL1 18318 NM_015338.5 100% Bohring-Opitz syndrome OMIM

ASXL2 23805 NM_018263.5 99% Shashi-Pena syndrome OMIM

ASXL3 29357 NM_030632.2 99% Bainbridge-Ropers syndrome OMIM

ATAD3A 25567 NM_001170535.2 90% Harel-Yoon syndrome OMIM

ATIC 794 NM_004044.6 99% AICA-ribosiduria due to ATIC deficiency OMIM

ATM 795 NM_000051.3 99% Ataxia-telangiectasia OMIM

ATP13A2 30213 NM_022089.3 99% Kufor-Rakeb syndrome OMIM Spastic paraplegia 78, autosomal recessive OMIM

ATP1A3 801 NM_152296.4 100% Alternating hemiplegia of childhood 2 OMIM CAPOS syndrome OMIM Dystonia-12 OMIM ATP6AP2 18305 NM_005765.2 98% Mental retardation, X-linked, syndromic, Hedera type OMIM

ATP6V1B1 853 NM_001692.3 100% Renal tubular acidosis with deafness OMIM

ATP7A 869 NM_000052.6 100% Menkes disease OMIM Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X-linked 3 OMIM ATP8B1 3706 NM_005603.4 96% Cholestasis, benign recurrent intrahepatic OMIM Cholestasis, intrahepatic, of pregnancy, 1 OMIM Cholestasis, progressive familial intrahepatic 1 OMIM ATR 882 NM_001184.3 99% GAPO syndrome OMIM ?Cutaneous telangiectasia and cancer syndrome, familial OMIM Seckel syndrome 1 OMIM ATRX 886 NM_000489.4 99% Alpha-thalassemia/mental retardation syndrome OMIM Mental retardation-hypotonic facies syndrome, X-linked OMIM AUH 890 NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM

AUTS2 14262 NM_015570.3 98% Mental retardation, autosomal dominant 6 OMIM

B3GALNT2 28596 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) B3GALT6 17978 NM_080605.3 84% Ehlers-Danlos syndrome, progeroid type, 2 OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM B4GALT7 930 NM_007255.2 100% Ehlers-Danlos syndrome with short stature and limb anomalies OMIM

B9D1 24123 NM_015681.4 100% Joubert syndrome 27 OMIM

BANF1 17397 NM_001143985.1 100% Nestor-Guillermo progeria syndrome OMIM

BBS1 966 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM

BBS10 26291 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM

BBS12 26648 NM_152618.2 100% Bardet-Biedl syndrome 12 OMIM

BBS2 967 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM Retinitis pigmentosa 74 OMIM

BBS4 969 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM

BBS5 970 NM_152384.2 99% Bardet-Biedl syndrome 5 OMIM

BBS7 18758 NM_176824.2 99% Bardet-Biedl syndrome 7 OMIM

BBS9 30000 NM_198428.2 99% Bardet-Biedl syndrome 9 OMIM

BCAP31 16695 NM_001139441.1 98% Deafness, dystonia, and cerebral hypomyelination OMIM

BCKDHA 986 NM_000709.3 100% Maple syrup urine disease, type Ia OMIM

BCKDHB 987 NM_183050.3 99% Maple syrup urine disease, type Ib OMIM

BCL11A 13221 NM_022893.3 100% Dias-Logan syndrome OMIM

BCOR 20893 NM_017745.5 99% Microphthalmia, syndromic 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BCS1L 1020 NM_004328.4 100% Bjornstad syndrome OMIM GRACILE syndrome OMIM Leigh syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM BFSP2 1041 NM_003571.3 100% Cataract 12, multiple types OMIM

BGN 1044 NM_001711.5 100% Meester-Loeys syndrome OMIM Spondyloepimetaphyseal dysplasia, X-linked OMIM

BHLHA9 35126 NM_001164405.1 85% Syndactyly, mesoaxial synostotic, with phalangeal reduction OMIM

BICD2 17208 NM_001003800.1 100% Spinal muscular atrophy, lower extremity-predominant, 2, AD OMIM

BIN1 1052 NM_139343.2 100% Myopathy, centronuclear, autosomal recessive OMIM

BLM 1058 NM_000057.3 100% Bloom syndrome OMIM

BLOC1S6 8549 NM_012388.3 100% ?Hermansky-pudlak syndrome 9 OMIM

BMP2 1069 NM_001200.3 100% Brachydactyly, type A2 OMIM

BMP4 1071 NM_001202.5 100% Microphthalmia, syndromic 6 OMIM

BMPER 24154 NM_133468.4 100% Diaphanospondylodysostosis OMIM

BMPR1B 1077 NM_001203.2 100% Acromesomelic dysplasia, Demirhan type OMIM Brachydactyly, type A1, D OMIM Brachydactyly, type A2 OMIM BOLA3 24415 NM_212552.2 92% Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM

BRAF 1097 NM_004333.4 98% Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM BRAT1 21701 NM_152743.3 99% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM

BRCA2 1101 NM_000059.3 99% Fanconi anemia, complementation group D1 OMIM

BRIP1 20473 NM_032043.2 100% Fanconi anemia, complementation group J OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) BRPF1 14255 NM_001003694.1 100% Intellectual developmental disorder with dysmorphic facies and ptosis OMIM

BRWD3 17342 NM_153252.4 99% Mental retardation, X-linked 93 OMIM

BSND 16512 NM_057176.2 100% Bartter syndrome, type 4a OMIM Sensorineural deafness with mild renal dysfunction OMIM

BTD 1122 NM_000060.4 100% Biotinidase deficiency OMIM

BUB1B 1149 NM_001211.5 99% Mosaic variegated aneuploidy syndrome 1 OMIM

C12orf57 29521 NM_138425.3 100% Temtamy syndrome OMIM

C12orf65 26784 NM_152269.4 99% Combined oxidative phosphorylation deficiency 7 OMIM Spastic paraplegia 55, autosomal recessive OMIM

C1QTNF5 14344 NM_015645.4 97% Retinal degeneration, late-onset, autosomal dominant OMIM

C21orf2 1260 NM_004928.2 100% Retinal dystrophy with macular staphyloma OMIM Spondylometaphyseal dysplasia, axial OMIM

C21orf59 1301 NM_021254.3 100% Ciliary dyskinesia, primary, 26 OMIM

C2CD3 24564 NM_015531.5 100% ?Orofaciodigital syndrome XIV OMIM

C2orf71 34383 NM_001029883.2 99% Retinitis pigmentosa 54 OMIM

C4orf26 26300 NM_178497.3 100% Amelogenesis imperfecta, type IIA4 OMIM

C5orf42 25801 NM_023073.3 99% Joubert syndrome 17 OMIM Orofaciodigital syndrome VI OMIM

C8orf37 27232 NM_177965.3 100% Bardet-Biedl syndrome 21 OMIM Cone-rod dystrophy 16 OMIM Retinitis pigmentosa 64 OMIM CA2 1373 NM_000067.2 100% Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM

CA5A 1377 NM_001739.1 99% Hyperammonemia due to carbonic anhydrase VA deficiency OMIM

CA8 1382 NM_004056.5 99% Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CACNA1C 1390 NM_000719.6 100% Brugada syndrome 3 OMIM Timothy syndrome OMIM

CACNA1D 1391 NM_000720.3 100% Primary aldosteronism, seizures, and neurologic abnormalities OMIM Sinoatrial node dysfunction and deafness OMIM CAMTA1 18806 NM_015215.3 100% Cerebellar ataxia, nonprogressive, with mental retardation OMIM

CARS2 25695 NM_024537.3 100% Combined oxidative phosphorylation deficiency 27 OMIM

CASK 1497 NM_003688.3 99% FG syndrome 4 OMIM Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM Mental retardation, with or without nystagmus OMIM CBL 1541 NM_005188.3 99% Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM

CBS 1550 NM_000071.2 99% Homocystinuria, B6-responsive and nonresponsive types OMIM Thrombosis, hyperhomocysteinemic OMIM CC2D1A 30237 NM_017721.4 100% Mental retardation, autosomal recessive 3 OMIM

CC2D2A 29253 NM_001080522.2 100% COACH syndrome OMIM Joubert syndrome 9 OMIM Meckel syndrome 6 OMIM CCBE1 29426 NM_133459.3 100% Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM

CCDC103 32700 NM_213607.2 100% Ciliary dyskinesia, primary, 17 OMIM

CCDC114 26560 NM_144577.3 100% Ciliary dyskinesia, primary, 20 OMIM

CCDC115 28178 NM_032357.3 92% Congenital disorder of glycosylation, type IIo OMIM

CCDC151 28303 NM_145045.4 100% Ciliary dyskinesia, primary, 30 OMIM

CCDC22 28909 NM_014008.4 98% Ritscher-Schinzel syndrome 2 OMIM

CCDC39 25244 NM_181426.1 99% Ciliary dyskinesia, primary, 14 OMIM

CCDC40 26090 NM_017950.3 99% Ciliary dyskinesia, primary, 15 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CCDC41 17966 NM_016122.2 99% Nephronophthisis 18 OMIM

CCDC65 29937 NM_033124.4 100% Ciliary dyskinesia, primary, 27 OMIM

CCDC78 14153 NM_001031737.2 100% Myopathy, centronuclear, 4 OMIM

CCDC8 25367 NM_032040.4 100% 3-M syndrome 3 OMIM

CCDC88C 19967 NM_001080414.3 100% ?Spinocerebellar ataxia 40 OMIM Hydrocephalus, nonsyndromic, autosomal recessive OMIM CCND2 1583 NM_001759.3 100% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 3 OMIM

CCNO 18576 NM_021147.4 99% Ciliary dyskinesia, primary, 29 OMIM

CD96 16892 NM_198196.2 100% C syndrome OMIM

CDC45 1739 NM_001178010.2 100% Meier-Gorlin syndrome 7 OMIM

CDC6 1744 NM_001254.3 100% ?Meier-Gorlin syndrome 5 OMIM

CDH15 1754 NM_004933.2 100% Mental retardation, autosomal dominant 3 OMIM

CDH23 13733 NM_022124.5 100% Deafness, autosomal recessive 12 OMIM Usher syndrome, type 1D OMIM Usher syndrome, type 1D/F digenic OMIM CDH3 1762 NM_001793.5 100% Mental retardation, autosomal dominant 3 OMIM Ectodermal dysplasia, ectrodactyly, and macular dystrophy OMIM Hypotrichosis, congenital, with juvenile macular dystrophy OMIM CDK13 1733 NM_031267.3 99% Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM

CDK5RAP2 18672 NM_018249.5 100% Microcephaly 3, primary, autosomal recessive OMIM

CDKL5 11411 NM_003159.2 100% Epileptic encephalopathy, early infantile, 2 OMIM

CDKN1C 1786 NM_000076.2 84% Beckwith-Wiedemann syndrome OMIM IMAGE syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CDON 17104 NM_016952.4 100% Holoprosencephaly 11 OMIM

CDT1 24576 NM_030928.3 99% Meier-Gorlin syndrome 4 OMIM

CENPJ 17272 NM_018451.4 100% ?Seckel syndrome 4 OMIM Microcephaly 6, primary, autosomal recessive OMIM

CEP135 29086 NM_025009.4 99% Microcephaly 8, primary, autosomal recessive OMIM

CEP152 29298 NM_014985.3 99% Microcephaly 9, primary, autosomal recessive OMIM Seckel syndrome 5 OMIM

CEP290 29021 NM_025114.3 98% ?Bardet-Biedl syndrome 14 OMIM Joubert syndrome 5 OMIM Leber congenital amaurosis 10 OMIM Meckel syndrome 4 OMIM Senior-Loken syndrome 6 OMIM CEP41 12370 NM_018718.2 99% Joubert syndrome 15 OMIM

CEP57 30794 NM_014679.4 100% Mosaic variegated aneuploidy syndrome 2 OMIM

CEP63 25815 NM_025180.3 100% ?Seckel syndrome 6 OMIM

CFL2 1875 NM_021914.7 100% Nemaline myopathy 7, autosomal recessive OMIM

CHAMP1 20311 NM_001164144.2 100% Mental retardation, autosomal dominant 40 OMIM

CHD2 1917 NM_001271.3 100% Epileptic encephalopathy, childhood-onset OMIM

CHD4 1919 NM_001273.3 100% Sifrim-Hitz-Weiss syndrome OMIM

CHD7 20626 NM_017780.3 100% CHARGE syndrome OMIM Hypogonadotropic hypogonadism 5 with or without anosmia OMIM CHD8 20153 NM_001170629.1 100% {Autism, susceptibility to, 18} OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CHM 1940 NM_000390.3 99% Charcot-Marie-Tooth disease, dominant intermediate D OMIM Charcot-Marie-Tooth disease, type 1B OMIM Charcot-Marie-Tooth disease, type 2I OMIM Charcot-Marie-Tooth disease, type 2J OMIM Dejerine-Sottas disease OMIM Neuropathy, congenital hypomyelinating OMIM Roussy-Levy syndrome OMIM Choroideremia OMIM CHMP1A 8740 NM_002768.4 100% Pontocerebellar hypoplasia, type 8 OMIM

CHRDL1 29861 NM_001143981.1 100% Megalocornea 1, X-linked OMIM

CHRNA1 1955 NM_000079.3 100% Multiple pterygium syndrome, lethal type OMIM Myasthenic syndrome, congenital, 1A, slow-channel OMIM Myasthenic syndrome, congenital, 1B, fast-channel OMIM CHRNA4 1958 NM_000744.6 99% Epilepsy, nocturnal frontal lobe, 1 OMIM

CHRNB2 1962 NM_000748.2 100% Epilepsy, nocturnal frontal lobe, 3 OMIM

CHRNG 1967 NM_005199.4 100% Escobar syndrome OMIM Multiple pterygium syndrome, lethal type OMIM

CHST14 24464 NM_130468.3 99% Ehlers-Danlos syndrome, musculocontractural type 1 OMIM

CHST3 1971 NM_004273.4 100% Spondyloepiphyseal dysplasia with congenital joint dislocations OMIM

CHSY1 17198 NM_014918.4 99% Temtamy preaxial brachydactyly syndrome OMIM

CHUK 1974 NM_001278.4 100% Cocoon syndrome OMIM

CIB2 24579 NM_006383.3 100% Deafness, autosomal recessive 48 OMIM Usher syndrome, type IJ OMIM

CISD2 24212 NM_001008388.4 77% Wolfram syndrome 2 OMIM

CIT 1985 NM_001206999.1 100% Microcephaly 17, primary, autosomal recessive OMIM

CKAP2L 26877 NM_152515.4 100% Filippi syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CLCN4 2022 NM_001830.3 100% Mental retardation, X-linked 49/15 OMIM

CLCN7 2025 NM_001287.5 99% Osteopetrosis, autosomal dominant 2 OMIM Osteopetrosis, autosomal recessive 4 OMIM

CLCNKB 2027 NM_000085.4 99% Bartter syndrome, type 3 OMIM Bartter syndrome, type 4b, digenic OMIM

CLDN19 2040 NM_148960.2 99% Hypomagnesemia 5, renal, with ocular involvement OMIM

CLMP 24039 NM_024769.3 100% Congenital short bowel syndrome OMIM

CLN3 2074 NM_001042432.1 100% Ceroid lipofuscinosis, neuronal, 3 OMIM

CLN5 2076 NM_006493.2 100% Ceroid lipofuscinosis, neuronal, 5 OMIM

CLN6 2077 NM_017882.2 99% Ceroid lipofuscinosis, neuronal, 6 OMIM Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM CLN8 2079 NM_018941.3 100% Ceroid lipofuscinosis, neuronal, 8 OMIM Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM CLP1 16999 NM_006831.2 100% Pontocerebellar hypoplasia, type 10 OMIM

CLPB 30664 NM_001258394.2 100% 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia OMIM

CLPP 2084 NM_006012.2 99% Perrault syndrome 3 OMIM

CNKSR2 19701 NM_001168647.2 99% Intellectual disability with epilepsy

CNOT3 7879 NM_014516.3 100% CNOT3 syndrome

CNTNAP1 8011 NM_003632.2 99% Lethal congenital contracture syndrome 7 OMIM

CNTNAP2 13830 NM_014141.5 100% Cortical dysplasia-focal epilepsy syndrome OMIM Pitt-Hopkins like syndrome 1 OMIM

COASY 29932 NM_025233.6 100% Neurodegeneration with brain iron accumulation 6 OMIM

COG1 6545 NM_018714.2 100% Congenital disorder of glycosylation, type IIg OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) COG4 18620 NM_015386.2 100% Congenital disorder of glycosylation, type IIj OMIM

COG5 14857 NM_006348.3 100% Congenital disorder of glycosylation, type IIi OMIM

COG7 18622 NM_153603.3 100% Congenital disorder of glycosylation, type IIe OMIM

COG8 18623 NM_032382.4 100% Congenital disorder of glycosylation, type IIh OMIM

COL10A1 2185 NM_000493.3 100% Metaphyseal chondrodysplasia, Schmid type OMIM

COL11A1 2186 NM_001854.3 99% Fibrochondrogenesis 1 OMIM Marshall syndrome OMIM Stickler syndrome, type II OMIM COL11A2 2187 NM_080680.2 100% Deafness, autosomal dominant 13 OMIM Deafness, autosomal recessive 53 OMIM Fibrochondrogenesis 2 OMIM Otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM Otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM COL13A1 2190 NM_001130103.1 100% Myasthenic syndrome, congenital, 19 OMIM

COL18A1 2195 NM_130445.3 98% Knobloch syndrome, type 1 OMIM

COL1A1 2197 NM_000088.3 99% Caffey disease OMIM Ehlers-Danlos syndrome, classic OMIM Ehlers-Danlos syndrome, type VIIA OMIM Osteogenesis imperfecta, type I OMIM Osteogenesis imperfecta, type II OMIM Osteogenesis imperfecta, type III OMIM Osteogenesis imperfecta, type IV OMIM COL25A1 18603 NM_198721.3 99% Fibrosis of extraocular muscles, congenital, 5 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) COL2A1 2200 NM_001844.4 100% Achondrogenesis, type II or hypochondrogenesis OMIM Czech dysplasia OMIM Epiphyseal dysplasia, multiple, with myopia and deafness OMIM Kniest dysplasia OMIM Legg-Calve-Perthes disease OMIM Osteoarthritis with mild chondrodysplasia OMIM Platyspondylic skeletal dysplasia, Torrance type OMIM SED congenita OMIM SMED Strudwick type OMIM Spondyloepiphyseal dysplasia, Stanescu type OMIM Spondyloperipheral dysplasia OMIM Stickler sydrome, type I, nonsyndromic ocular OMIM Stickler syndrome, type I OMIM COL4A1 2202 NM_001845.5 99% Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM Brain small vessel disease with or without ocular anomalies OMIM Porencephaly 1 OMIM COL4A2 2203 NM_001846.3 100% Porencephaly 2 OMIM

COL4A3 2204 NM_000091.4 98% Alport syndrome, autosomal dominant OMIM Alport syndrome, autosomal recessive OMIM Hematuria, benign familial OMIM COL4A3BP 2205 NM_001130105.1 100% Mental retardation, autosomal dominant 34 OMIM

COL4A4 2206 NM_000092.4 99% Alport syndrome, autosomal recessive OMIM

COL6A1 2211 NM_001848.2 100% Bethlem myopathy 1 OMIM Ullrich congenital muscular dystrophy 1 OMIM

COL6A3 2213 NM_004369.3 100% Bethlem myopathy 1 OMIM Dystonia 27 OMIM Ullrich congenital muscular dystrophy 1 OMIM COL9A1 2217 NM_001851.4 100% ?Epiphyseal dysplasia, multiple, 6 OMIM Stickler syndrome, type IV OMIM

COL9A2 2218 NM_001852.3 99% ?Stickler syndrome, type V OMIM Epiphyseal dysplasia, multiple, 2 OMIM

COL9A3 2219 NM_001853.3 99% Epiphyseal dysplasia, multiple, 3, with or without myopathy OMIM

COLEC11 17213 NM_024027.4 100% 3MC syndrome 2 OMIM

COMP 2227 NM_000095.2 97% Epiphyseal dysplasia, multiple, 1 OMIM Pseudoachondroplasia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) COQ2 25223 NM_015697.7 99% Coenzyme Q10 deficiency, primary, 1 OMIM

COQ4 19693 NM_016035.4 100% Coenzyme Q10 deficiency, primary, 7 OMIM

COQ9 25302 NM_020312.3 100% Coenzyme Q10 deficiency, primary, 5 OMIM

COX10 2260 NM_001303.3 100% Leigh syndrome due to mitochondrial COX4 deficiency OMIM Mitochondrial complex IV deficiency OMIM COX15 2263 NM_004376.6 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM Leigh syndrome due to cytochrome c oxidase deficiency OMIM COX6B1 2280 NM_001863.4 100% Mitochondrial complex IV deficiency OMIM

COX7B 2291 NM_001866.2 88% Linear skin defects with multiple congenital anomalies 2 OMIM

CPAMD8 23228 NM_015692.3 97% Anterior segement dysgenesis 8 OMIM

CPS1 2323 NM_001875.4 100% Carbamoylphosphate synthetase I deficiency OMIM

CRADD 2340 NM_003805.4 100% Mental retardation, autosomal recessive 34, with variant lissencephaly OMIM

CRB1 2343 NM_201253.2 100% Leber congenital amaurosis 8 OMIM Pigmented paravenous chorioretinal atrophy OMIM Retinitis pigmentosa-12, autosomal recessive OMIM CRB2 18688 NM_173689.6 99% Focal segmental glomerulosclerosis 9 OMIM Ventriculomegaly with cystic kidney disease OMIM

CRBN 30185 NM_016302.3 100% Mental retardation, autosomal recessive 2 OMIM

CREBBP 2348 NM_004380.2 99% Rubinstein-Taybi syndrome 1 OMIM

CRELD1 14630 NM_015513.4 100% Atrioventricular septal defect, partial, with heterotaxy syndrome OMIM

CRX 2383 NM_000554.5 100% Cone-rod retinal dystrophy-2 OMIM Leber congenital amaurosis 7 OMIM

CRYAA 2388 NM_000394.3 100% Cataract 9, multiple types OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CRYBA1 2394 NM_005208.4 100% Cataract 10, multiple types OMIM

CRYBA4 2396 NM_001886.2 100% Cataract 23 OMIM

CRYBB1 2397 NM_001887.3 99% Cataract 17, multiple types OMIM

CRYBB2 2398 NM_000496.2 100% Cataract 3, multiple types OMIM

CRYBB3 2400 NM_004076.4 100% Cataract 22 OMIM

CRYGC 2410 NM_020989.3 100% Cataract 2, multiple types OMIM

CRYGD 2411 NM_006891.3 100% Cataract 4, multiple types OMIM

CSNK2A1 2457 NM_001895.3 100% Okur-Chung neurodevelopmental syndrome OMIM

CSPP1 26193 NM_024790.6 100% Joubert syndrome 21 OMIM

CSTA 2481 NM_005213.3 100% Peeling skin syndrome 4 OMIM

CSTB 2482 NM_000100.3 100% Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM

CTC1 26169 NM_025099.5 100% Cerebroretinal microangiopathy with calcifications and cysts OMIM

CTCF 13723 NM_006565.3 99% Mental retardation, autosomal dominant 21 OMIM

CTDP1 2498 NM_004715.4 96% Congenital cataracts, facial dysmorphism, and neuropathy OMIM

CTNNB1 2514 NM_001904.3 100% Exudative vitreoretinopathy 7 OMIM Mental retardation, autosomal dominant 19 OMIM

CTNND1 2515 NM_001206885.1 100% Blepharo-Cheiro-Dontic Syndrome

CTNS 2518 NM_004937.2 100% Cystinosis, atypical nephropathic OMIM Cystinosis, late-onset juvenile or adolescent nephropathic OMIM Cystinosis, nephropathic OMIM Cystinosis, ocular nonnephropathic OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) CTSA 9251 NM_000308.3 99% Galactosialidosis OMIM

CTSD 2529 NM_001909.4 100% Ceroid lipofuscinosis, neuronal, 10 OMIM

CTSK 2536 NM_000396.3 100% Pycnodysostosis OMIM

CUL4B 2555 NM_003588.3 99% Mental retardation, X-linked, syndromic 15 (Cabezas type) OMIM

CUL7 21024 NM_014780.4 100% 3-M syndrome 1 OMIM

CYB5R3 2873 NM_000398.6 98% Methemoglobinemia, type I OMIM Methemoglobinemia, type II OMIM

CYC1 2579 NM_001916.4 100% Mitochondrial complex III deficiency, nuclear type 6 OMIM

CYP1B1 2597 NM_000104.3 100% Anterior segment dysgenesis 6, multiple subtypes OMIM Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset OMIM CYP2U1 20582 NM_183075.2 98% Spastic paraplegia 56, autosomal recessive OMIM

DAG1 2666 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 OMIM DARS 2678 NM_001349.3 100% Hypomyelination with brainstem and spinal cord involvement and leg spasticity OMIM

DARS2 25538 NM_018122.4 100% Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation OMIM

DBT 2698 NM_001918.3 100% Maple syrup urine disease, type II OMIM

DCAF17 25784 NM_025000.3 100% Woodhouse-Sakati syndrome OMIM

DCDC2 18141 NM_016356.4 100% ?Deafness, autosomal recessive 66 OMIM Nephronophthisis 19 OMIM Sclerosing cholangitis, neonatal OMIM DCHS1 13681 NM_003737.3 99% Mitral valve prolapse 2 OMIM Van Maldergem syndrome 1 OMIM

DCX 2714 NM_178153.2 100% Lissencephaly, X-linked OMIM Subcortical laminal heteropia, X-linked OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DDB2 2718 NM_000107.2 100% Xeroderma pigmentosum, group E, DDB-negative subtype OMIM

DDC 2719 NM_000790.3 100% Aromatic L-amino acid decarboxylase deficiency OMIM

DDHD1 19714 NM_001160147.1 98% Spastic paraplegia 28, autosomal recessive OMIM

DDHD2 29106 NM_015214.2 100% Spastic paraplegia 54, autosomal recessive OMIM

DDOST 2728 NM_005216.4 100% ?Congenital disorder of glycosylation, type Ir OMIM

DDR2 2731 NM_006182.2 100% Spondylometaepiphyseal dysplasia, short limb-hand type OMIM

DDX11 2736 NM_030653.3 89% Warsaw breakage syndrome OMIM

DDX3X 2745 NM_001193416.2 99% Mental retardation, X-linked 102 OMIM

DDX59 25360 NM_001031725.5 100% Orofaciodigital syndrome V OMIM

DEAF1 14677 NM_021008.3 95% ?Dyskinesia, seizures, and intellectual developmental disorder OMIM Mental retardation, autosomal dominant 24 OMIM DECR1 2753 NM_001359.1 100% 2,4-Dienoyl-Coa Reductase Deficiency

DENND5A 19344 NM_015213.3 100% Epileptic encephalopathy, early infantile, 49 OMIM

DEPDC5 18423 NM_001242896.1 100% Epilepsy, familial focal, with variable foci 1 OMIM

DHCR24 2859 NM_014762.3 100% Desmosterolosis OMIM

DHCR7 2860 NM_001360.2 100% Smith-Lemli-Opitz syndrome OMIM

DHFR 2861 NM_000791.3 99% Megaloblastic anemia due to dihydrofolate reductase deficiency OMIM

DHODH 2867 NM_001361.4 100% Miller syndrome OMIM

DHTKD1 23537 NM_018706.6 100% 2-aminoadipic 2-oxoadipic aciduria OMIM ?Charcot-Marie-Tooth disease, axonal, type 2Q OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DIS3L2 28648 NM_152383.4 100% Perlman syndrome OMIM

DKC1 2890 NM_001363.4 100% Dyskeratosis congenita, X-linked OMIM

DLAT 2896 NM_001931.4 100% Pyruvate dehydrogenase E2 deficiency OMIM

DLD 2898 NM_000108.4 100% Dihydrolipoamide dehydrogenase deficiency OMIM

DLG3 2902 NM_021120.3 99% Mental retardation, X-linked 90 OMIM

DLL3 2909 NM_016941.3 96% Spondylocostal dysostosis 1, autosomal recessive OMIM

DLL4 2910 NM_019074.3 100% Adams-Oliver syndrome 6 OMIM

DMD 2928 NM_004006.2 99% Becker muscular dystrophy OMIM Cardiomyopathy, dilated, 3B OMIM Duchenne muscular dystrophy OMIM DMP1 2932 NM_004407.3 100% Hypophosphatemic rickets, AR OMIM

DMPK 2933 NM_004409.4 100% Myotonic dystrophy 1 OMIM

DNA2 2939 NM_001080449.2 100% Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 OMIM ?Seckel syndrome 8 OMIM DNAAF3 30492 NM_001256714.1 99% Ciliary dyskinesia, primary, 2 OMIM

DNAH5 2950 NM_001369.2 99% Ciliary dyskinesia, primary, 3, with or without situs inversus OMIM

DNAJC12 28908 NM_021800.2 100% Hyperphenylalaninemia, mild, non-BH4-deficient OMIM

DNM1 2972 NM_004408.3 97% Epileptic encephalopathy, early infantile, 31 OMIM

DNMT3A 2978 NM_175629.2 99% Tatton-Brown-Rahman syndrome OMIM

DNMT3B 2979 NM_006892.3 100% Immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM

DOCK6 19189 NM_020812.3 99% Adams-Oliver syndrome 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DOCK7 19190 NM_001271999.1 99% Epileptic encephalopathy, early infantile, 23 OMIM

DOCK8 19191 NM_203447.3 100% Hyper-IgE recurrent infection syndrome, autosomal recessive OMIM

DOLK 23406 NM_014908.3 100% Congenital disorder of glycosylation, type Im OMIM

DPAGT1 2995 NM_001382.3 100% Congenital disorder of glycosylation, type Ij OMIM Myasthenic syndrome, congenital, 13, with tubular aggregates OMIM DPM1 3005 NM_003859.2 100% Congenital disorder of glycosylation, type Ie OMIM

DPM3 3007 NM_153741.1 100% Congenital disorder of glycosylation, type Io OMIM

DRC1 24245 NM_145038.4 100% Ciliary dyskinesia, primary, 21 OMIM

DSG1 3048 NM_001942.3 99% Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE OMIM Keratosis palmoplantaris striata I, AD OMIM DSPP 3054 NM_014208.3 98% Deafness, autosomal dominant 39, with dentinogenesis OMIM Dentin dysplasia, type II OMIM Dentinogenesis imperfecta, Shields type II OMIM Dentinogenesis imperfecta, Shields type III OMIM DSTYK 29043 NM_015375.2 100% Spastic paraplegia 23 OMIM {Congenital anomalies of kidney and urinary tract, susceptibility to} OMIM DVL1 3084 NM_004421.2 100% Robinow syndrome, autosomal dominant 2 OMIM

DVL3 3087 NM_004423.3 100% Robinow syndrome, autosomal dominant 3 OMIM

DYM 21317 NM_017653.3 100% Dyggve-Melchior-Clausen disease OMIM Smith-McCort dysplasia OMIM

DYNC1H1 2961 NM_001376.4 100% Charcot-Marie-Tooth disease, axonal, type 20 OMIM Mental retardation, autosomal dominant 13 OMIM Spinal muscular atrophy, lower extremity-predominant 1, AD OMIM DYNC2H1 2962 NM_001080463.1 99% Short-rib thoracic dysplasia 3 with or without polydactyly OMIM

DYRK1A 3091 NM_001396.4 100% Mental retardation, autosomal dominant 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) DYX1C1 21493 NM_130810.3 100% Ciliary dyskinesia, primary, 25 OMIM

EBF3 19087 NM_001005463.2 99% Hypotonia, ataxia, and delayed development syndrome OMIM

EBP 3133 NM_006579.2 99% Chondrodysplasia punctata, X-linked dominant OMIM MEND syndrome OMIM

ECEL1 3147 NM_004826.3 98% Arthrogryposis, distal, type 5D OMIM

EDA 3157 NM_001399.4 99% Ectodermal dysplasia 1, hypohidrotic, X-linked OMIM Tooth agenesis, selective, X-linked 1 OMIM

EDN1 3176 NM_001955.4 100% Auriculocondylar syndrome 3 OMIM Question mark ears, isolated OMIM

EDNRA 3179 NM_001957.3 100% Mandibulofacial dysostosis with alopecia OMIM

EDNRB 3180 NM_000115.4 100% ABCD syndrome OMIM Waardenburg syndrome, type 4A OMIM

EEF1A2 3192 NM_001958.3 100% Epileptic encephalopathy, early infantile, 33 OMIM Mental retardation, autosomal dominant 38 OMIM

EFNB1 3226 NM_004429.4 100% Craniofrontonasal dysplasia OMIM

EFTUD2 30858 NM_004247.3 100% Mandibulofacial dysostosis, Guion-Almeida type OMIM

EGR2 3239 NM_000399.4 100% Charcot-Marie-Tooth disease, type 1D OMIM Dejerine-Sottas disease OMIM Neuropathy, congenital hypomyelinating, 1 OMIM EHMT1 24650 NM_024757.4 99% Kleefstra syndrome OMIM

EIF2AK3 3255 NM_004836.6 98% Wolcott-Rallison syndrome OMIM

EIF2S3 3267 NM_001415.3 99% Mental retardation, X-linked, syndromic, Borck type OMIM

EIF4A3 18683 NM_014740.3 100% Robin sequence with cleft mandible and limb anomalies OMIM

ELAC2 14198 NM_018127.6 100% Combined oxidative phosphorylation deficiency 17 OMIM

ELMO2 17233 NM_182764.2 100% Vascular malformation, primary intraosseous OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ELN 3327 NM_001278939.1 100% Cutis laxa, autosomal dominant OMIM Supravalvar aortic stenosis OMIM

ELOVL4 14415 NM_022726.3 100% Ichthyosis, spastic quadriplegia, and mental retardation OMIM Spinocerebellar ataxia 34 OMIM Stargardt disease 3 OMIM EMC1 28957 NM_015047.2 100% Cerebellar atrophy, visual impairment, and psychomotor retardation OMIM

EMG1 16912 NM_006331.7 100% Bowen-Conradi syndrome OMIM

ENPP1 3356 NM_006208.2 96% Arterial calcification, generalized, of infancy, 1 OMIM Cole disease OMIM

EOGT 28526 NM_173654.2 100% Adams-Oliver syndrome 4 OMIM

EP300 3373 NM_001429.3 100% Rubinstein-Taybi syndrome 2 OMIM

EPG5 29331 NM_020964.2 99% Vici syndrome OMIM

ERCC1 3433 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM

ERCC2 3434 NM_000400.3 100% ?Cerebrooculofacioskeletal syndrome 2 OMIM Trichothiodystrophy 1, photosensitive OMIM Xeroderma pigmentosum, group D OMIM ERCC3 3435 NM_000122.1 100% Trichothiodystrophy 2, photosensitive OMIM Xeroderma pigmentosum, group B OMIM

ERCC4 3436 NM_005236.2 100% ?XFE progeroid syndrome OMIM Fanconi anemia, complementation group Q OMIM Xeroderma pigmentosum, group F OMIM Xeroderma pigmentosum, type F/Cockayne syndrome OMIM ERCC5 3437 NM_000123.3 100% Cerebrooculofacioskeletal syndrome 3 OMIM Xeroderma pigmentosum, group G OMIM Xeroderma pigmentosum, group G/Cockayne syndrome OMIM ERCC6 3438 NM_000124.3 100% Cerebrooculofacioskeletal syndrome 1 OMIM Cockayne syndrome, type B OMIM De Sanctis-Cacchione syndrome OMIM ERCC6L2 26922 NM_001010895.2 100% Bone marrow failure syndrome 2 OMIM

ERCC8 3439 NM_000082.3 100% Cockayne syndrome, type A OMIM UV-sensitive syndrome 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ERF 3444 NM_006494.3 100% Chitayat syndrome OMIM Craniosynostosis 4 OMIM

ERLIN2 1356 NM_007175.6 100% Spastic paraplegia 18, autosomal recessive OMIM

ERMARD 21056 NM_018341.2 100% ?Periventricular nodular heterotopia 6 OMIM

ESCO2 27230 NM_001017420.2 99% Roberts syndrome OMIM SC phocomelia syndrome OMIM

ETFA 3481 NM_000126.3 100% Glutaric acidemia IIA OMIM

ETFB 3482 NM_001985.2 100% Glutaric acidemia IIB OMIM

ETFDH 3483 NM_004453.3 100% Glutaric acidemia IIC OMIM

ETHE1 23287 NM_014297.4 100% Ethylmalonic encephalopathy OMIM

EVC 3497 NM_153717.2 96% ?Weyers acrofacial dysostosis OMIM Ellis-van Creveld syndrome OMIM

EVC2 19747 NM_147127.4 98% Ellis-van Creveld syndrome OMIM Weyers acrofacial dysostosis OMIM

EXOSC3 17944 NM_016042.3 99% Pontocerebellar hypoplasia, type 1B OMIM

EXPH5 30578 NM_015065.2 100% Epidermolysis bullosa, nonspecific, autosomal recessive OMIM

EXT1 3512 NM_000127.2 99% Chondrosarcoma OMIM Exostoses, multiple, type 1 OMIM

EXT2 3513 NM_207122.1 100% ?Seizures, scoliosis, and macrocephaly syndrome OMIM Exostoses, multiple, type 2 OMIM

EYA1 3519 NM_000503.5 100% ?Otofaciocervical syndrome OMIM Anterior segment anomalies with or without cataract OMIM Branchiootic syndrome 1 OMIM Branchiootorenal syndrome 1, with or without cataracts OMIM EZH2 3527 NM_004456.4 100% Weaver syndrome OMIM

FAH 3579 NM_000137.2 100% Tyrosinemia, type I OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FAM105B 25118 NM_138348.5 98% Autoinflammation, panniculitis, and dermatosis syndrome OMIM

FAM111A 24725 NM_022074.3 100% Gracile bone dysplasia OMIM Kenny-Caffey syndrome, type 2 OMIM

FAM126A 24587 NM_032581.3 99% Leukodystrophy, hypomyelinating, 5 OMIM

FAM134B 25964 NM_001034850.2 99% Neuropathy, hereditary sensory and autonomic, type IIB OMIM

FAM161A 25808 NM_032180.2 100% Retinitis pigmentosa 28 OMIM

FAM20A 23015 NM_017565.3 99% Amelogenesis imperfecta, type IG (enamel-renal syndrome) OMIM

FAM20C 22140 NM_020223.3 100% Raine syndrome OMIM

FAM58A 28434 NM_152274.4 83% STAR syndrome OMIM

FANCA 3582 NM_000135.3 100% Fanconi anemia, complementation group A OMIM

FANCB 3583 NM_001018113.2 99% Fanconi anemia, complementation group B OMIM

FANCC 3584 NM_000136.2 100% Fanconi anemia, complementation group C OMIM

FANCD2 3585 NM_033084.4 100% Fanconi anemia, complementation group D2 OMIM

FANCE 3586 NM_021922.2 95% Fanconi anemia, complementation group E OMIM

FANCF 3587 NM_022725.3 100% Fanconi anemia, complementation group F OMIM

FANCG 3588 NM_004629.1 100% Fanconi anemia, complementation group G OMIM

FANCI 25568 NM_001113378.1 99% Fanconi anemia, complementation group I OMIM

FANCL 20748 NM_018062.3 100% Fanconi anemia, complementation group L OMIM

FANCM 23168 NM_020937.3 100% Fanconi anemia Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FAR1 26222 NM_032228.5 98% Peroxisomal fatty acyl-CoA reductase 1 disorder OMIM

FAT4 23109 NM_024582.4 100% Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM Van Maldergem syndrome 2 OMIM FBN1 3603 NM_000138.4 100% Acromicric dysplasia OMIM Ectopia lentis, familial OMIM Geleophysic dysplasia 2 OMIM Marfan lipodystrophy syndrome OMIM Marfan syndrome OMIM Stiff skin syndrome OMIM Weill-Marchesani syndrome 2, dominant OMIM FBN2 3604 NM_001999.3 100% Contractural arachnodactyly, congenital OMIM Macular degeneration, early-onset OMIM

FBP1 3606 NM_000507.3 100% Fructose-1,6-bisphosphatase deficiency OMIM

FBXL4 13601 NM_012160.4 100% Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM

FEZF1 22788 NM_001160264.2 100% Hypogonadotropic hypogonadism 22, with or without anosmia OMIM

FGD1 3663 NM_004463.2 98% Aarskog-Scott syndrome OMIM Mental retardation, X-linked syndromic 16 OMIM

FGF10 3666 NM_004465.1 100% Aplasia of lacrimal and salivary glands OMIM LADD syndrome OMIM

FGF12 3668 NM_004113.5 100% Epileptic encephalopathy, early infantile, 47 OMIM

FGF3 3681 NM_005247.2 100% Deafness, congenital with inner ear agenesis, microtia, and microdontia OMIM

FGF9 3687 NM_002010.2 100% ?Multiple synostoses syndrome 3 OMIM

FGFR1 3688 NM_023110.2 100% Encephalocraniocutaneous lipomatosis OMIM Hartsfield syndrome OMIM Hypogonadotropic hypogonadism 2 with or without anosmia OMIM Jackson-Weiss syndrome OMIM Osteoglophonic dysplasia OMIM Pfeiffer syndrome OMIM Trigonocephaly 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FGFR2 3689 NM_000141.4 100% Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis OMIM Apert syndrome OMIM Beare-Stevenson cutis gyrata syndrome OMIM Bent bone dysplasia syndrome OMIM Craniofacial-skeletal-dermatologic dysplasia OMIM Crouzon syndrome OMIM Jackson-Weiss syndrome OMIM LADD syndrome OMIM Pfeiffer syndrome OMIM Saethre-Chotzen syndrome OMIM Scaphocephaly, maxillary retrusion, and mental retardation OMIM FGFR3 3690 NM_000142.4 100% Achondroplasia OMIM CATSHL syndrome OMIM Crouzon syndrome with acanthosis nigricans OMIM Hypochondroplasia OMIM LADD syndrome OMIM Muenke syndrome OMIM SADDAN OMIM Thanatophoric dysplasia, type I OMIM Thanatophoric dysplasia, type II OMIM FH 3700 NM_000143.3 95% Fumarase deficiency OMIM Leiomyomatosis and renal cell cancer OMIM Hypercholesterolemia, familial OMIM LDL cholesterol level QTL2 OMIM FHL1 3702 NM_001449.4 99% Hemophagocytic lymphohistiocytosis, familial, 1 OMIM Emery-Dreifuss muscular dystrophy 6, X-linked OMIM Myopathy, X-linked, with postural muscle atrophy OMIM Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM Scapuloperoneal myopathy, X-linked dominant OMIM FIG4 16873 NM_014845.5 100% Amyotrophic lateral sclerosis 11 OMIM Charcot-Marie-Tooth disease, type 4J OMIM Yunis-Varon syndrome OMIM FKBP14 18625 NM_017946.3 100% Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss OMIM

FKRP 17997 NM_024301.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 OMIM Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 OMIM FKTN 3622 NM_001079802.1 99% Cardiomyopathy, dilated, 1X OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FLAD1 24671 NM_025207.4 100% Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency OMIM

FLNA 3754 NM_001456.3 100% Cardiac valvular dysplasia, X-linked OMIM Congenital short bowel syndrome OMIM FG syndrome 2 OMIM Frontometaphyseal dysplasia 1 OMIM Heterotopia, periventricular OMIM Intestinal pseudoobstruction, neuronal OMIM Melnick-Needles syndrome OMIM Otopalatodigital syndrome, type I OMIM Otopalatodigital syndrome, type II OMIM FLNB 3755 NM_001457.3 100% Atelosteogenesis, type I OMIM Atelosteogenesis, type III OMIM Boomerang dysplasia OMIM Larsen syndrome OMIM Spondylocarpotarsal synostosis syndrome OMIM FLT4 3767 NM_002020.4 99% Lymphedema, hereditary, IA OMIM

FLVCR1 24682 NM_014053.3 99% Ataxia, posterior column, with retinitis pigmentosa OMIM

FLVCR2 20105 NM_017791.2 100% Proliferative vasculopathy and hydraencephaly- hydrocephaly syndrome OMIM

FMN2 14074 NM_020066.4 88% Mental retardation, autosomal recessive 47 OMIM

FMR1 3775 NM_002024.5 99% Fragile X syndrome OMIM Fragile X tremor/ataxia syndrome OMIM

FOLR1 3791 NM_016725.2 100% Neurodegeneration due to cerebral folate transport deficiency OMIM

FOXC1 3800 NM_001453.2 99% Anterior segment dysgenesis 3, multiple subtypes OMIM Axenfeld-Rieger syndrome, type 3 OMIM

FOXC2 3801 NM_005251.2 100% Lymphedema-distichiasis syndrome OMIM Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus OMIM FOXE1 3806 NM_004473.3 99% Bamforth-Lazarus syndrome OMIM

FOXE3 3808 NM_012186.2 82% Anterior segment dysgenesis 2, multiple subtypes OMIM

FOXF1 3809 NM_001451.2 100% Alveolar capillary dysplasia with misalignment of pulmonary veins OMIM

FOXG1 3811 NM_005249.4 94% Rett syndrome, congenital variant OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FOXL2 1092 NM_023067.3 99% Blepharophimosis, epicanthus inversus, and ptosis, type 1 OMIM Blepharophimosis, epicanthus inversus, and ptosis, type 2 OMIM FOXN1 12765 NM_003593.2 100% T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM

FOXP1 3823 NM_032682.5 100% Mental retardation with language impairment and with or without autistic features OMIM

FOXP2 13875 NM_014491.3 100% Speech-language disorder-1 OMIM

FOXP3 6106 NM_014009.3 99% Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked OMIM

FOXRED1 26927 NM_017547.3 100% Leigh syndrome due to mitochondrial complex I deficiency OMIM Mitochondrial complex I deficiency OMIM FRAS1 19185 NM_025074.6 100% Fraser syndrome OMIM

FREM1 23399 NM_144966.5 100% Bifid nose with or without anorectal and renal anomalies OMIM Manitoba oculotrichoanal syndrome OMIM Trigonocephaly 2 OMIM FREM2 25396 NM_207361.5 100% Fraser syndrome OMIM

FRMD7 8079 NM_194277.2 100% Nystagmus 1, congenital, X-linked OMIM

FRMPD4 29007 NM_014728.3 100% Mental retardation, X-linked 104 OMIM

FRRS1L 1362 NM_014334.3 82% Epileptic encephalopathy, early infantile, 37 OMIM

FTCD 3974 NM_006657.2 97% Glutamate formiminotransferase deficiency OMIM

FTL 3999 NM_000146.3 100% Hyperferritinemia-cataract syndrome OMIM L-ferritin deficiency, dominant and recessive OMIM Neurodegeneration with brain iron accumulation 3 OMIM FTO 24678 NM_001080432.2 100% Growth retardation, developmental delay, facial dysmorphism OMIM

FTSJ1 13254 NM_012280.3 99% Mental retardation, X-linked 9/44 OMIM

FUCA1 4006 NM_000147.4 100% Fucosidosis OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) FYCO1 14673 NM_024513.3 100% Cataract 18, autosomal recessive OMIM

FZD5 4043 NM_003468.3 100% Autosomal Dominant Coloboma

FZD6 4044 NM_003506.3 100% Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) OMIM

GAA 4065 NM_000152.4 100% Glycogen storage disease II OMIM

GABRA1 4075 NM_000806.5 100% Epileptic encephalopathy, early infantile, 19 OMIM

GABRB3 4083 NM_000814.5 99% Epileptic encephalopathy, early infantile, 43 OMIM

GABRG2 4087 NM_000816.3 100% Epilepsy, generalized, with febrile seizures plus, type 3 OMIM Febrile seizures, familial, 8 OMIM GAD1 4092 NM_000817.2 100% ?Cerebral palsy, spastic quadriplegic, 1 OMIM

GALC 4115 NM_000153.3 99% Krabbe disease OMIM

GALE 4116 NM_000403.3 100% Galactose epimerase deficiency OMIM

GALK1 4118 NM_000154.1 100% Galactokinase deficiency with cataracts OMIM

GALNS 4122 NM_000512.4 99% Mucopolysaccharidosis IVA OMIM

GALT 4135 NM_000155.3 100% Galactosemia OMIM

GAMT 4136 NM_000156.5 100% Cerebral creatine deficiency syndrome 2 OMIM

GAS8 4166 NM_001286209.1 99% Ciliary dyskinesia, primary, 33 OMIM

GATA2 4171 NM_032638.4 100% Emberger syndrome OMIM Immunodeficiency 21 OMIM

GATA4 4173 NM_002052.4 89% Atrial septal defect 2 OMIM Atrioventricular septal defect 4 OMIM Tetralogy of Fallot OMIM Ventricular septal defect 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GATA6 4174 NM_005257.5 92% Atrial septal defect 9 OMIM Atrioventricular septal defect 5 OMIM Pancreatic agenesis and congenital heart defects OMIM Tetralogy of Fallot OMIM GATAD2B 30778 NM_020699.3 100% Mental retardation, autosomal dominant 18 OMIM

GATM 4175 NM_001482.2 100% Cerebral creatine deficiency syndrome 3 OMIM

GBA 4177 NM_001005741.2 100% Gaucher disease, perinatal lethal OMIM Gaucher disease, type I OMIM Gaucher disease, type II OMIM Gaucher disease, type III OMIM Gaucher disease, type IIIC OMIM GBA2 18986 NM_020944.2 100% Spastic paraplegia 46, autosomal recessive OMIM

GCDH 4189 NM_000159.3 100% Glutaricaciduria, type I OMIM

GCH1 4193 NM_000161.2 100% Dystonia, DOPA-responsive, with or without hyperphenylalaninemia OMIM Hyperphenylalaninemia, BH4-deficient, B OMIM GCSH 4208 NM_004483.4 85% Glycine encephalopathy OMIM

GDF5 4220 NM_000557.4 100% Brachydactyly, type A1, C OMIM Brachydactyly, type A2 OMIM Brachydactyly, type C OMIM Chondrodysplasia, Grebe type OMIM Du Pan syndrome OMIM Multiple synostoses syndrome 2 OMIM GDF6 4221 NM_001001557.3 100% Klippel-Feil syndrome 1, autosomal dominant OMIM Leber congenital amaurosis 17 OMIM

GDI1 4226 NM_001493.2 100% Mental retardation, X-linked 41 OMIM

GFAP 4235 NM_002055.4 99% Alexander disease OMIM

GFER 4236 NM_005262.2 100% Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM

GFM1 13780 NM_024996.5 100% Combined oxidative phosphorylation deficiency 1 OMIM

GHR 4263 NM_000163.4 99% Laron dwarfism OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GJA1 4274 NM_000165.4 100% Atrioventricular septal defect 3 OMIM Craniometaphyseal dysplasia, autosomal recessive OMIM Hypoplastic left heart syndrome 1 OMIM Oculodentodigital dysplasia OMIM Oculodentodigital dysplasia, autosomal recessive OMIM Palmoplantar keratoderma with congenital alopecia OMIM Syndactyly, type III OMIM GJA3 4277 NM_021954.3 100% Cataract 14, multiple types OMIM

GJA8 4281 NM_005267.4 100% Cataract 1, multiple types OMIM

GJB2 4284 NM_004004.5 100% Bart-Pumphrey syndrome OMIM Deafness, autosomal dominant 3A OMIM Deafness, autosomal recessive 1A OMIM Hystrix-like ichthyosis with deafness OMIM Keratitis-ichthyosis-deafness syndrome OMIM Keratoderma, palmoplantar, with deafness OMIM Vohwinkel syndrome OMIM GJB3 4285 NM_024009.2 100% Deafness, autosomal dominant 2B OMIM Deafness, digenic, GJB2/GJB3 OMIM Erythrokeratodermia variabilis et progressiva 1 OMIM GJC2 17494 NM_020435.3 96% Leukodystrophy, hypomyelinating, 2 OMIM Lymphedema, hereditary, IC OMIM Spastic paraplegia 44, autosomal recessive OMIM GK 4289 NM_000167.5 93% Glycerol kinase deficiency OMIM

GLB1 4298 NM_000404.3 99% GM1-gangliosidosis, type I OMIM GM1-gangliosidosis, type II OMIM GM1-gangliosidosis, type III OMIM Mucopolysaccharidosis type IVB (Morquio) OMIM GLDC 4313 NM_000170.2 95% Glycine encephalopathy OMIM

GLDN 29514 NM_181789.3 100% Lethal congenital contracture syndrome 11 OMIM

GLE1 4315 NM_001003722.1 100% Arthrogryposis, lethal, with anterior horn cell disease OMIM Lethal congenital contracture syndrome 1 OMIM GLI2 4318 NM_005270.4 99% Culler-Jones syndrome OMIM Holoprosencephaly 9 OMIM

GLI3 4319 NM_000168.5 100% Greig cephalopolysyndactyly syndrome OMIM Pallister-Hall syndrome OMIM Polydactyly, postaxial, types A1 and B OMIM Polydactyly, preaxial, type IV OMIM GLIS2 29450 NM_032575.2 100% Nephronophthisis 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GLIS3 28510 NM_152629.3 100% Diabetes mellitus, neonatal, with congenital hypothyroidism OMIM

GLUD1 4335 NM_005271.4 99% Hyperinsulinism-hyperammonemia syndrome OMIM

GLUL 4341 NM_002065.6 100% Glutamine deficiency, congenital OMIM

GM2A 4367 NM_000405.4 100% GM2-gangliosidosis, AB variant OMIM

GMNN 17493 NM_001251989.1 99% Meier-Gorlin syndrome 6 OMIM

GMPPA 22923 NM_205847.2 100% Alacrima, achalasia, and mental retardation syndrome OMIM

GMPPB 22932 NM_021971.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM GNA11 4379 NM_002067.4 100% Hypocalcemia, autosomal dominant 2 OMIM Hypocalciuric hypercalcemia, type II OMIM

GNAI3 4387 NM_006496.3 100% Auriculocondylar syndrome 1 OMIM

GNAO1 4389 NM_020988.2 100% Epileptic encephalopathy, early infantile, 17 OMIM Neurodevelopmental disorder with involuntary movements OMIM GNAQ 4390 NM_002072.4 94% Capillary malformations, congenital, 1, somatic, mosaic OMIM Sturge-Weber syndrome, somatic, mosaic OMIM GNAS 4392 NM_000516.5 100% Acromegaly, somatic OMIM ACTH-independent macronodular adrenal hyperplasia OMIM McCune-Albright syndrome, somatic, mosaic OMIM Osseous heteroplasia, progressive OMIM Pseudohypoparathyroidism Ia OMIM Pseudohypoparathyroidism Ib OMIM Pseudohypoparathyroidism Ic OMIM Pseudopseudohypoparathyroidism OMIM GNB1 4396 NM_002074.4 100% Mental retardation, autosomal dominant 42 OMIM

GNB5 4401 NM_016194.3 100% Intellectual developmental disorder with cardiac arrhythmia OMIM Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GNPAT 4416 NM_014236.3 100% Rhizomelic chondrodysplasia punctata, type 2 OMIM

GNPTAB 29670 NM_024312.4 100% Mucolipidosis II alpha/beta OMIM Mucolipidosis III alpha/beta OMIM

GNPTG 23026 NM_032520.4 99% Mucolipidosis III gamma OMIM

GNS 4422 NM_002076.3 98% Mucopolysaccharidosis type IIID OMIM

GORAB 25676 NM_152281.2 100% Geroderma osteodysplasticum OMIM

GPC3 4451 NM_004484.3 99% Simpson-Golabi-Behmel syndrome, type 1 OMIM

GPC6 4454 NM_005708.4 100% Omodysplasia 1 OMIM

GPR126 13841 NM_020455.5 100% Lethal congenital contracture syndrome 9 OMIM

GPR179 31371 NM_001004334.3 100% Night blindness, congenital stationary (complete), 1E, autosomal recessive OMIM

GPR56 4512 NM_005682.6 100% Polymicrogyria, bilateral frontoparietal OMIM Polymicrogyria, bilateral perisylvian OMIM

GPSM2 29501 NM_013296.4 100% Chudley-McCullough syndrome OMIM

GPX4 4556 NM_001039847.2 90% Spondylometaphyseal dysplasia, Sedaghatian type OMIM

GRHL2 2799 NM_024915.3 100% Deafness, autosomal dominant 28 OMIM Ectodermal dysplasia/short stature syndrome OMIM

GRHL3 25839 NM_198174.2 100% Van der Woude syndrome 2 OMIM

GRIA3 4573 NM_000828.4 99% Mental retardation, X-linked 94 OMIM

GRIK2 4580 NM_021956.4 100% Mental retardation, autosomal recessive, 6 OMIM

GRIN1 4584 NM_007327.3 100% Mental retardation, autosomal dominant 8 OMIM

GRIN2A 4585 NM_000833.4 100% Epilepsy, focal, with speech disorder and with or without mental retardation OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) GRIN2B 4586 NM_000834.3 100% Epileptic encephalopathy, early infantile, 27 OMIM Mental retardation, autosomal dominant 6 OMIM

GRIN2D 4588 NM_000836.2 84% Epileptic encephalopathy, early infantile, 46 OMIM

GRM1 4593 NM_001278066.1 100% Spinocerebellar ataxia, autosomal recessive 13 OMIM

GRM6 4598 NM_000843.3 98% Night blindness, congenital stationary (complete), 1B, autosomal recessive OMIM

GSPT2 4622 NM_018094.4 100% XL Intellectual Disability

GTF2E2 4651 NM_002095.5 99% Trichothiodystrophy 6, nonphotosensitive OMIM

GTF2H5 21157 NM_207118.2 100% Trichothiodystrophy 3, photosensitive OMIM

GTPBP3 14880 NM_133644.3 100% Combined oxidative phosphorylation deficiency 23 OMIM

GUCY2C 4688 NM_004963.3 100% Meconium ileus OMIM

GUSB 4696 NM_000181.3 92% Mucopolysaccharidosis VII OMIM

HACE1 21033 NM_020771.3 100% Spastic paraplegia and psychomotor retardation with or without seizures OMIM

HADH 4799 NM_005327.4 100% 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM

HADHA 4801 NM_000182.4 99% Fatty liver, acute, of pregnancy OMIM HELLP syndrome, maternal, of pregnancy OMIM LCHAD deficiency OMIM Trifunctional protein deficiency OMIM HAX1 16915 NM_006118.3 100% Neutropenia, severe congenital 3, autosomal recessive OMIM

HCCS 4837 NM_005333.4 100% Linear skin defects with multiple congenital anomalies 1 OMIM

HCFC1 4839 NM_005334.2 99% Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) OMIM

HCN1 4845 NM_021072.3 100% Epileptic encephalopathy, early infantile, 24 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) HDAC4 14063 NM_006037.3 99% Brachydactyly-Mental Retardation Syndrome

HDAC8 13315 NM_018486.2 100% Cornelia de Lange syndrome 5 OMIM

HEATR2 26013 NM_017802.3 95% Ciliary dyskinesia, primary, 18 OMIM

HECW2 29853 NM_020760.3 99% Neurodevelopmental disorder with hypotonia, seizures, and absent language OMIM

HESX1 4877 NM_003865.2 100% Growth hormone deficiency with pituitary anomalies OMIM Pituitary hormone deficiency, combined, 5 OMIM Septooptic dysplasia OMIM HEXA 4878 NM_000520.5 100% GM2-gangliosidosis, several forms OMIM Tay-Sachs disease OMIM

HEXB 4879 NM_000521.3 100% Sandhoff disease, infantile, juvenile, and adult forms OMIM

HGSNAT 26527 NM_152419.2 95% Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM Retinitis pigmentosa 73 OMIM

HIBCH 4908 NM_014362.3 99% 3-hydroxyisobutryl-CoA hydrolase deficiency OMIM

HINT1 4912 NM_005340.6 100% Neuromyotonia and axonal neuropathy, autosomal recessive OMIM

HIST1H1E 4718 NM_005321.2 100% Rahman syndrome OMIM

HIVEP2 4921 NM_006734.3 100% Mental retardation, autosomal dominant 43 OMIM

HLCS 4976 NM_000411.6 100% Holocarboxylase synthetase deficiency OMIM

HMGCL 5005 NM_000191.2 100% HMG-CoA lyase deficiency OMIM

HMGCS2 5008 NM_005518.3 100% HMG-CoA synthase-2 deficiency OMIM

HMX1 5017 NM_018942.2 85% Oculoauricular syndrome OMIM

HNF1B 11630 NM_000458.3 99% Diabetes mellitus, noninsulin-dependent OMIM Renal cysts and diabetes syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) HNF4A 5024 NM_175914.4 99% Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young OMIM MODY, type I OMIM HNRNPH2 5042 NM_001199974.1 100% Mental retardation, X-linked, syndromic, Bain type OMIM

HNRNPU 5048 NM_031844.2 100% Epileptic encephalopathy, early infantile, 54 OMIM

HOXA1 5099 NM_005522.4 100% Athabaskan brainstem dysgenesis syndrome OMIM Bosley-Salih-Alorainy syndrome OMIM

HOXA13 5102 NM_000522.4 88% Guttmacher syndrome OMIM Hand-foot-uterus syndrome OMIM

HOXB1 5111 NM_002144.3 100% Facial paresis, hereditary congenital, 3 OMIM

HOXC13 5125 NM_017410.2 100% Ectodermal dysplasia 9, hair/nail type OMIM

HOXD13 5136 NM_000523.3 100% Brachydactyly, type D OMIM Brachydactyly, type E OMIM Syndactyly, type V OMIM Synpolydactyly 1 OMIM HPD 5147 NM_002150.2 100% Hawkinsinuria OMIM Tyrosinemia, type III OMIM

HPGD 5154 NM_000860.5 100% Cranioosteoarthropathy OMIM Digital clubbing, isolated congenital OMIM Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM HPRT1 5157 NM_000194.2 98% HPRT-related gout OMIM Lesch-Nyhan syndrome OMIM

HPS1 5163 NM_000195.4 100% Hermansky-Pudlak syndrome 1 OMIM

HPSE2 18374 NM_021828.4 100% Urofacial syndrome 1 OMIM

HR 5172 NM_005144.4 99% Alopecia universalis OMIM Atrichia with papular lesions OMIM Hypotrichosis 4 OMIM HRAS 5173 NM_005343.3 100% Congenital myopathy with excess of muscle spindles OMIM Costello syndrome OMIM HSD17B10 4800 NM_004493.2 99% HSD10 mitochondrial disease OMIM

HSD17B4 5213 NM_000414.3 99% D-bifunctional protein deficiency OMIM Perrault syndrome 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) HSD3B7 18324 NM_025193.3 100% Bile acid synthesis defect, congenital, 1 OMIM

HSF4 5227 NM_001538.3 99% Cataract 5, multiple types OMIM

HSPD1 5261 NM_002156.4 99% Leukodystrophy, hypomyelinating, 4 OMIM Spastic paraplegia 13, autosomal dominant OMIM

HSPG2 5273 NM_005529.6 99% Dyssegmental dysplasia, Silverman-Handmaker type OMIM Schwartz-Jampel syndrome, type 1 OMIM HUWE1 30892 NM_031407.6 99% Mental retardation, X-linked syndromic, Turner type OMIM

HYAL1 5320 NM_153281.1 100% ?Mucopolysaccharidosis type IX OMIM

HYLS1 26558 NM_145014.2 100% Hydrolethalus syndrome OMIM

IARS 5330 NM_002161.5 100% Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy OMIM

IDS 5389 NM_000202.7 100% Mucopolysaccharidosis II OMIM

IDUA 5391 NM_000203.4 98% Mucopolysaccharidosis Ih OMIM Mucopolysaccharidosis Ih/s OMIM Mucopolysaccharidosis Is OMIM IFIH1 18873 NM_022168.3 99% Aicardi-Goutieres syndrome 7 OMIM Singleton-Merten syndrome 1 OMIM

IFITM5 16644 NM_001025295.2 99% Osteogenesis imperfecta, type V OMIM

IFT122 13556 NM_052985.3 100% Cranioectodermal dysplasia 1 OMIM

IFT140 29077 NM_014714.3 99% Short-rib thoracic dysplasia 9 with or without polydactyly OMIM

IFT172 30391 NM_015662.2 99% Retinitis pigmentosa 71 OMIM Short-rib thoracic dysplasia 10 with or without polydactyly OMIM IFT43 29669 NM_052873.2 100% Cranioectodermal dysplasia 3 OMIM

IFT80 29262 NM_020800.2 99% Short-rib thoracic dysplasia 2 with or without polydactyly OMIM

IGBP1 5461 NM_001551.2 100% Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) IGF1 5464 NM_000618.4 100% Growth retardation with deafness and mental retardation due to IGF1 deficiency OMIM

IGF1R 5465 NM_000875.4 100% Insulin-like growth factor I, resistance to OMIM

IGF2 5466 NM_000612.5 100% ?Growth restriction, severe, with distinctive facies OMIM

IGFBP7 5476 NM_001553.2 99% Retinal arterial macroaneurysm with supravalvular pulmonic stenosis OMIM

IGHMBP2 5542 NM_002180.2 99% Charcot-Marie-Tooth disease, axonal, type 2S OMIM Neuronopathy, distal hereditary motor, type VI OMIM

IGSF1 5948 NM_001170961.1 99% Hypothyroidism, central, and testicular enlargement OMIM

IHH 5956 NM_002181.3 100% Acrocapitofemoral dysplasia OMIM Brachydactyly, type A1 OMIM

IL11RA 5967 NM_001142784.2 100% Craniosynostosis and dental anomalies OMIM

IL1RAPL1 5996 NM_014271.3 100% Mental retardation, X-linked 21/34 OMIM

IMPAD1 26019 NM_017813.4 100% Chondrodysplasia with joint dislocations, GPAPP type OMIM

INPP5E 21474 NM_019892.5 99% Joubert syndrome 1 OMIM Mental retardation, truncal obesity, retinal dystrophy, and micropenis OMIM INPPL1 6080 NM_001567.3 99% Opsismodysplasia OMIM

IQSEC2 29059 NM_001111125.2 97% Mental retardation, X-linked 1/78 OMIM

IRF6 6121 NM_006147.3 100% Popliteal pterygium syndrome 1 OMIM van der Woude syndrome OMIM

IRX5 14361 NM_005853.5 99% Hamamy syndrome OMIM

ISPD 37276 NM_001101426.3 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 OMIM ITCH 13890 NM_031483.6 100% Autoimmune disease, multisystem, with facial dysmorphism OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ITGA3 6139 NM_002204.3 99% Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM

ITGA7 6143 NM_002206.2 100% Muscular dystrophy, congenital, due to ITGA7 deficiency OMIM

ITGA8 6144 NM_003638.2 99% Renal hypodysplasia/aplasia 1 OMIM

ITPR1 6180 NM_002222.5 100% Gillespie syndrome OMIM Spinocerebellar ataxia 15 OMIM Spinocerebellar ataxia 29, congenital nonprogressive OMIM IVD 6186 NM_002225.3 100% Isovaleric acidemia OMIM

JAG1 6188 NM_000214.2 99% ?Deafness, congenital heart defects, and posterior embryotoxon Alagille syndrome 1 OMIM Tetralogy of Fallot OMIM JAGN1 26926 NM_032492.3 100% Neutropenia, severe congenital, 6, autosomal recessive OMIM

JAK3 6193 NM_000215.3 99% SCID, autosomal recessive, T-negative/B-positive type OMIM

JAM3 15532 NM_032801.4 100% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM

KANSL1 24565 NM_001193466.1 99% Koolen-De Vries syndrome OMIM

KARS 6215 NM_001130089.1 100% ?Charcot-Marie-Tooth disease, recessive intermediate, B OMIM Deafness, autosomal recessive 89 OMIM KAT6A 13013 NM_006766.4 100% Mental retardation, autosomal dominant 32 OMIM

KAT6B 17582 NM_012330.3 100% Genitopatellar syndrome OMIM SBBYSS syndrome OMIM

KBTBD13 37227 NM_001101362.2 100% Nemaline myopathy 6, autosomal dominant OMIM

KCNA2 6220 NM_001204269.1 100% Epileptic encephalopathy, early infantile, 32 OMIM

KCNB1 6231 NM_004975.3 100% Epileptic encephalopathy, early infantile, 26 OMIM

KCNC1 6233 NM_001112741.1 100% Epilepsy, progressive myoclonic 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) KCNC3 6235 NM_004977.2 89% Spinocerebellar ataxia 13 OMIM

KCNE1 6240 NM_000219.5 100% Jervell and Lange-Nielsen syndrome 2 OMIM Long QT syndrome 5 OMIM

KCNH1 6250 NM_172362.2 100% Temple-Baraitser syndrome OMIM Zimmermann-Laband syndrome 1 OMIM

KCNJ10 6256 NM_002241.4 100% Enlarged vestibular aqueduct, digenic OMIM SESAME syndrome OMIM

KCNJ11 6257 NM_000525.3 100% Diabetes mellitus, transient neonatal, 3 OMIM Diabetes, permanent neonatal, with or without neurologic features OMIM Hyperinsulinemic hypoglycemia, familial, 2 OMIM Maturity-onset diabetes of the young, type 13 OMIM KCNJ6 6267 NM_002240.4 100% Keppen-Lubinsky syndrome OMIM

KCNMA1 6284 NM_002247.3 100% Generalized epilepsy and paroxysmal dyskinesia OMIM

KCNQ1 6294 NM_000218.2 97% Atrial fibrillation, familial, 3 OMIM Jervell and Lange-Nielsen syndrome OMIM Long QT syndrome 1 OMIM Short QT syndrome 2 OMIM KCNQ2 6296 NM_172107.3 100% Epileptic encephalopathy, early infantile, 7 OMIM Myokymia OMIM Seizures, benign neonatal, 1 OMIM KCNQ3 6297 NM_004519.3 100% Seizures, benign neonatal, type 2 OMIM

KCNT1 18865 NM_020822.2 99% Epilepsy, nocturnal frontal lobe, 5 OMIM Epileptic encephalopathy, early infantile, 14 OMIM

KCTD1 18249 NM_001258221.1 100% Scalp-ear-nipple syndrome OMIM

KCTD7 21957 NM_153033.4 100% Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM

KDM5B 18039 NM_006618.4 100% KDM5B Syndrome

KDM5C 11114 NM_004187.3 99% Mental retardation, X-linked, syndromic, Claes-Jensen type OMIM

KDM6A 12637 NM_021140.3 98% Kabuki syndrome 2 OMIM

KIAA0226 28991 NM_001145642.4 100% ?Spinocerebellar ataxia, autosomal recessive 15 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) KIAA0586 19960 NM_001244189.1 99% Joubert syndrome 23 OMIM Short-rib thoracic dysplasia 14 with polydactyly OMIM

KIAA1109 26953 NM_015312.3 99% Brain Atrophy, Dandy Walker and Contractures

KIAA1279 23419 NM_015634.3 100% Goldberg-Shprintzen megacolon syndrome OMIM

KIAA2022 29433 NM_001008537.2 100% Mental retardation, X-linked 98 OMIM

KIDINS220 29508 NM_020738.3 100% Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM

KIF11 6388 NM_004523.3 98% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM

KIF1A 888 NM_004321.7 99% Mental retardation, autosomal dominant 9 OMIM Neuropathy, hereditary sensory, type IIC OMIM Spastic paraplegia 30, autosomal recessive OMIM KIF22 6391 NM_007317.2 100% Spondyloepimetaphyseal dysplasia with joint laxity, type 2 OMIM

KIF2A 6318 NM_001098511.2 100% Cortical dysplasia, complex, with other brain malformations 3 OMIM

KIF4A 13339 NM_012310.4 99% ?Mental retardation, X-linked 100 OMIM

KIF5C 6325 NM_004522.2 100% Cortical dysplasia, complex, with other brain malformations 2 OMIM

KIF7 30497 NM_198525.2 97% Acrocallosal syndrome OMIM Joubert syndrome 12 OMIM

KIRREL3 23204 NM_032531.3 99% Mental retardation, autosomal dominant 4 OMIM

KIT 6342 NM_000222.2 100% Piebaldism OMIM

KLF1 6345 NM_006563.4 100% Dyserythropoietic anemia, congenital, type IV OMIM

KLHL40 30372 NM_152393.3 100% Nemaline myopathy 8, autosomal recessive OMIM

KLHL7 15646 NM_001031710.2 100% Retinitis pigmentosa 42 OMIM

KMT2A 7132 NM_001197104.1 100% Wiedemann-Steiner syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) KMT2D 7133 NM_003482.3 100% Kabuki syndrome 1 OMIM

KPTN 6404 NM_007059.3 100% Mental retardation, autosomal recessive 41 OMIM

KRAS 6407 NM_004985.4 100% Cardiofaciocutaneous syndrome 2 OMIM Noonan syndrome 3 OMIM

KRIT1 1573 NM_194456.1 100% Cavernous malformations of CNS and retina OMIM Cerebral cavernous malformations-1 OMIM Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations OMIM KRT74 28929 NM_175053.3 100% ?Ectodermal dysplasia 7, hair/nail type OMIM Woolly hair, autosomal dominant OMIM

L1CAM 6470 NM_000425.4 99% Corpus callosum, partial agenesis of OMIM CRASH syndrome OMIM Hydrocephalus due to aqueductal stenosis OMIM Hydrocephalus with congenital idiopathic intestinal pseudoobstruction OMIM Hydrocephalus with Hirschsprung disease OMIM MASA syndrome OMIM L2HGDH 20499 NM_024884.2 99% L-2-hydroxyglutaric aciduria OMIM

LAMA1 6481 NM_005559.3 100% Poretti-Boltshauser syndrome OMIM

LAMA2 6482 NM_000426.3 100% Muscular dystrophy, congenital merosin-deficient OMIM Muscular dystrophy, congenital, due to partial LAMA2 deficiency OMIM LAMB1 6486 NM_002291.2 100% Lissencephaly 5 OMIM

LAMC3 6494 NM_006059.3 99% Cortical malformations, occipital OMIM

LAMP2 6501 NM_002294.2 96% Danon disease OMIM

LARGE 6511 NM_004737.5 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM LARP7 24912 NM_016648.3 96% Alazami syndrome OMIM

LARS2 17095 NM_015340.3 100% Perrault syndrome 4 OMIM

LBR 6518 NM_002296.3 99% Greenberg skeletal dysplasia OMIM Pelger-Huet anomaly OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) LDB3 15710 NM_001080116.1 100% Cardiomyopathy, dilated, 1C, with or without LVNC OMIM Cardiomyopathy, hypertrophic, 24 OMIM Left ventricular noncompaction 3 OMIM Myopathy, myofibrillar, 4 OMIM LEMD3 28887 NM_014319.4 99% Buschke-Ollendorff syndrome OMIM Osteopoikilosis with or without melorheostosis OMIM

LEPRE1 19316 NM_022356.3 100% Osteogenesis imperfecta, type VIII OMIM

LFNG 6560 NM_001040167.1 85% ?Spondylocostal dysostosis 3, autosomal recessive OMIM

LHX3 6595 NM_014564.4 100% Pituitary hormone deficiency, combined, 3 OMIM

LHX4 21734 NM_033343.3 100% Pituitary hormone deficiency, combined, 4 OMIM

LIG4 6601 NM_002312.3 100% LIG4 syndrome OMIM

LINS 30922 NM_001040616.2 100% Mental retardation, autosomal recessive 27 OMIM

LIPN 23452 NM_001102469.1 100% Ichthyosis, congenital, autosomal recessive 8 OMIM

LMBRD1 23038 NM_018368.3 97% Methylmalonic aciduria and homocystinuria, cblF type OMIM

LMNA 6636 NM_170707.3 98% Cardiomyopathy, dilated, 1A OMIM Charcot-Marie-Tooth disease, type 2B1 OMIM Emery-Dreifuss muscular dystrophy 2, AD OMIM Emery-Dreifuss muscular dystrophy 3, AR OMIM Heart-hand syndrome, Slovenian type OMIM Hutchinson-Gilford progeria OMIM Lipodystrophy, familial partial, type 2 OMIM Malouf syndrome OMIM Mandibuloacral dysplasia OMIM Muscular dystrophy, congenital OMIM Muscular dystrophy, limb-girdle, type 1B OMIM Restrictive dermopathy, lethal OMIM LMX1B 6654 NM_002316.3 100% Nail-patella syndrome OMIM

LONP1 9479 NM_001276480.1 100% CODAS syndrome OMIM

LRAT 6685 NM_004744.4 100% Leber congenital amaurosis 14 OMIM Retinal dystrophy, early-onset severe OMIM Retinitis pigmentosa, juvenile OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) LRBA 1742 NM_006726.4 100% Immunodeficiency, common variable, 8, with autoimmunity OMIM

LRIG2 20889 NM_014813.2 100% Urofacial syndrome 2 OMIM

LRIT3 24783 NM_198506.4 94% Night blindness, congenital stationary (complete), 1F, autosomal recessive OMIM

LRP2 6694 NM_004525.2 100% Donnai-Barrow syndrome OMIM

LRP4 6696 NM_002334.3 99% Cenani-Lenz syndactyly syndrome OMIM Sclerosteosis 2 OMIM

LRP5 6697 NM_002335.3 99% Exudative vitreoretinopathy 4 OMIM Hyperostosis, endosteal OMIM Osteopetrosis, autosomal dominant 1 OMIM Osteoporosis-pseudoglioma syndrome OMIM Osteosclerosis OMIM van Buchem disease, type 2 OMIM LRPPRC 15714 NM_133259.3 99% Leigh syndrome, French-Canadian type OMIM

LRRC6 16725 NM_012472.5 99% Ciliary dyskinesia, primary, 19 OMIM

LTBP2 6715 NM_000428.2 100% Weill-Marchesani syndrome 3 OMIM

LTBP3 6716 NM_001130144.2 99% Dental anomalies and short stature OMIM

LYST 1968 NM_000081.3 99% Chediak-Higashi syndrome OMIM

MAB21L2 6758 NM_006439.4 100% Microphthalmia/coloboma and skeletal dysplasia syndrome OMIM

MAF 6776 NM_005360.4 88% Ayme-Gripp syndrome OMIM Cataract 21, multiple types OMIM

MAFB 6408 NM_005461.4 100% Duane retraction syndrome 3 OMIM Multicentric carpotarsal osteolysis syndrome OMIM

MAGEL2 6814 NM_019066.4 96% Schaaf-Yang syndrome OMIM

MAMLD1 2568 NM_005491.4 100% Hypospadias 2, X-linked OMIM

MAN1B1 6823 NM_016219.4 99% Mental retardation, autosomal recessive 15 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MAN2B1 6826 NM_000528.3 99% Mannosidosis, alpha-, types I and II OMIM

MANBA 6831 NM_005908.3 100% Mannosidosis, beta OMIM

MAOA 6833 NM_000240.3 100% Brunner syndrome OMIM {Antisocial behavior} OMIM

MAP2K1 6840 NM_002755.3 99% Cardiofaciocutaneous syndrome 3 OMIM

MAP2K2 6842 NM_030662.3 99% Cardiofaciocutaneous syndrome 4 OMIM

MAP3K1 6848 NM_005921.1 99% 46XY sex reversal 6 OMIM

MAP3K7 6859 NM_003188.3 99% Cardiospondylocarpofacial syndrome OMIM Frontometaphyseal dysplasia 2 OMIM

MAPRE2 6891 NM_001143826.2 100% Symmetric circumferential skin creases, congenital, 2 OMIM

MASP1 6901 NM_139125.3 100% 3MC syndrome 1 OMIM

MAT1A 6903 NM_000429.2 99% Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency OMIM Methionine adenosyltransferase deficiency, autosomal recessive OMIM MATN3 6909 NM_002381.4 84% Epiphyseal dysplasia, multiple, 5 OMIM Spondyloepimetaphyseal dysplasia OMIM

MBD5 20444 NM_018328.4 100% Mental retardation, autosomal dominant 1 OMIM

MBOAT7 15505 NM_001146083.2 99% Mental retardation, autosomal recessive 57 OMIM

MC2R 6930 NM_000529.2 100% Glucocorticoid deficiency, due to ACTH unresponsiveness OMIM

MCCC1 6936 NM_020166.4 100% 3-Methylcrotonyl-CoA carboxylase 1 deficiency OMIM

MCCC2 6937 NM_022132.4 100% 3-Methylcrotonyl-CoA carboxylase 2 deficiency OMIM

MCEE 16732 NM_032601.3 100% Methylmalonyl-CoA epimerase deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MCOLN1 13356 NM_020533.2 99% Mucolipidosis IV OMIM

MCPH1 6954 NM_024596.4 100% Microcephaly 1, primary, autosomal recessive OMIM

MDH2 6971 NM_005918.3 99% Epileptic encephalopathy, early infantile, 51 OMIM

MECOM 3498 NM_004991.3 100% Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 OMIM

MECP2 6990 NM_004992.3 100% Encephalopathy, neonatal severe OMIM Mental retardation, X-linked syndromic, Lubs type OMIM Mental retardation, X-linked, syndromic 13 OMIM Rett syndrome OMIM Rett syndrome, atypical OMIM Rett syndrome, preserved speech variant OMIM MECR 19691 NM_001024732.3 100% Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities OMIM

MED12 11957 NM_005120.2 99% Lujan-Fryns syndrome OMIM Ohdo syndrome, X-linked OMIM Opitz-Kaveggia syndrome OMIM MED13L 22962 NM_015335.4 100% Mental retardation and distinctive facial features with or without cardiac defects OMIM Transposition of the great arteries, dextro-looped 1 OMIM MED17 2375 NM_004268.4 100% Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM

MED23 2372 NM_015979.3 99% Mental retardation, autosomal recessive 18 OMIM

MEF2C 6996 NM_002397.4 99% Chromosome 5q14.3 deletion syndrome OMIM Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations OMIM MEGF10 29634 NM_032446.2 100% Myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM MEGF8 3233 NM_001410.2 100% Carpenter syndrome 2 OMIM

MEOX1 7013 NM_004527.3 100% Klippel-Feil syndrome 2 OMIM

MESP2 29659 NM_001039958.1 96% Spondylocostal dysostosis 2, autosomal recessive OMIM

MFSD2A 25897 NM_001136493.2 100% Microcephaly 15, primary, autosomal recessive OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MFSD8 28486 NM_152778.2 100% Ceroid lipofuscinosis, neuronal, 7 OMIM Macular dystrophy with central cone involvement OMIM

MGAT2 7045 NM_002408.3 100% Congenital disorder of glycosylation, type IIa OMIM

MGP 7060 NM_000900.4 99% Keutel syndrome OMIM

MICU1 1530 NM_006077.3 99% Myopathy with extrapyramidal signs OMIM

MID1 7095 NM_000381.3 100% Opitz GBBB syndrome, type I OMIM

MITF 7105 NM_000248.3 100% COMMAD syndrome OMIM Tietz albinism-deafness syndrome OMIM Waardenburg syndrome, type 2A OMIM Waardenburg syndrome/ocular albinism, digenic OMIM MKKS 7108 NM_018848.3 100% Bardet-Biedl syndrome 6 OMIM McKusick-Kaufman syndrome OMIM

MKS1 7121 NM_017777.3 100% Bardet-Biedl syndrome 13 OMIM Joubert syndrome 28 OMIM Meckel syndrome 1 OMIM MLC1 17082 NM_015166.3 100% Megalencephalic leukoencephalopathy with subcortical cysts OMIM

MLYCD 7150 NM_012213.2 99% Malonyl-CoA decarboxylase deficiency OMIM

MMAA 18871 NM_172250.2 100% Methylmalonic aciduria, vitamin B12-responsive OMIM

MMAB 19331 NM_052845.3 100% Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type OMIM MMACHC 24525 NM_015506.2 100% Methylmalonic aciduria and homocystinuria, cblC type OMIM

MMADHC 25221 NM_015702.2 98% Homocystinuria, cblD type, variant 1 OMIM Methylmalonic aciduria and homocystinuria, cblD type OMIM Methylmalonic aciduria, cblD type, variant 2 OMIM MMP13 7159 NM_002427.3 100% Metaphyseal anadysplasia 1 OMIM Metaphyseal dysplasia, Spahr type OMIM Spondyloepimetaphyseal dysplasia, Missouri type OMIM MMP21 14357 NM_147191.1 99% Heterotaxy, visceral, 7, autosomal OMIM

MNX1 4979 NM_005515.3 75% Currarino syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MOCS1 7190 NM_005943.5 100% Molybdenum cofactor deficiency A OMIM

MOCS2 7193 NM_176806.3 100% Molybdenum cofactor deficiency B OMIM

MOGS 24862 NM_006302.2 99% Congenital disorder of glycosylation, type IIb OMIM

MORC2 23573 NM_014941.3 100% Charcot-Marie-Tooth disease, axonal, type 2Z OMIM

MPDU1 7207 NM_004870.3 100% Congenital disorder of glycosylation, type If OMIM

MPI 7216 NM_002435.2 100% Congenital disorder of glycosylation, type Ib OMIM

MPLKIP 16002 NM_138701.3 100% Trichothiodystrophy 4, nonphotosensitive OMIM

MPV17 7224 NM_002437.4 100% Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) OMIM

MRE11A 7230 NM_005591.3 99% Ataxia-telangiectasia-like disorder 1 OMIM

MRPS22 14508 NM_020191.2 100% Combined oxidative phosphorylation deficiency 5 OMIM

MSL3 7370 NM_078629.3 98% MSL3 Syndrome

MSX1 7391 NM_002448.3 100% Ectodermal dysplasia 3, Witkop type OMIM Tooth agenesis, selective, 1, with or without orofacial cleft OMIM MSX2 7392 NM_002449.4 100% Craniosynostosis 2 OMIM Parietal foramina 1 OMIM Parietal foramina with cleidocranial dysplasia OMIM MTHFR 7436 NM_005957.4 100% Homocystinuria due to MTHFR deficiency OMIM

MTM1 7448 NM_000252.2 100% Myotubular myopathy, X-linked OMIM

MTO1 19261 NM_012123.3 99% Combined oxidative phosphorylation deficiency 10 OMIM

MTR 7468 NM_000254.2 100% Homocystinuria-megaloblastic anemia, cblG complementation type OMIM

MTRR 7473 NM_002454.2 100% Homocystinuria-megaloblastic anemia, cbl E type OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) MUT 7526 NM_000255.3 100% Methylmalonic aciduria, mut(0) type OMIM

MYCN 7559 NM_005378.5 100% Feingold syndrome 1 OMIM

MYH3 7573 NM_002470.3 100% Arthrogryposis, distal, type 2A OMIM Arthrogryposis, distal, type 2B OMIM Arthrogryposis, distal, type 8 OMIM MYH6 7576 NM_002471.3 99% Atrial septal defect 3 OMIM Cardiomyopathy, hypertrophic, 14 OMIM

MYH8 7578 NM_002472.2 100% Carney complex variant OMIM Trismus-pseudocamptodactyly syndrome OMIM

MYH9 7579 NM_002473.5 99% Deafness, autosomal dominant 17 OMIM Epstein syndrome OMIM Fechtner syndrome OMIM Macrothrombocytopenia and progressive sensorineural deafness OMIM May-Hegglin anomaly OMIM Sebastian syndrome OMIM MYO5A 7602 NM_000259.3 99% Griscelli syndrome, type 1 OMIM

MYO5B 7603 NM_001080467.2 99% Microvillus inclusion disease OMIM

MYO7A 7606 NM_000260.3 99% Deafness, autosomal dominant 11 OMIM Deafness, autosomal recessive 2 OMIM Usher syndrome, type 1B OMIM MYT1L 7623 NM_015025.3 100% Mental retardation, autosomal dominant 39 OMIM

NAA10 18704 NM_003491.3 99% ?Microphthalmia, syndromic 1 OMIM Ogden syndrome OMIM

NAA15 30782 NM_057175.4 99% Congenital heart disease

NAGA 7631 NM_000262.2 100% Kanzaki disease OMIM Schindler disease, type I OMIM Schindler disease, type III OMIM NAGLU 7632 NM_000263.3 96% ?Charcot-Marie-Tooth disease, axonal, type 2V OMIM Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM

NAGS 17996 NM_153006.2 100% N-acetylglutamate synthase deficiency OMIM

NALCN 19082 NM_052867.3 100% Congenital contractures of the limbs and face, hypotonia, and developmental delay OMIM Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NANS 19237 NM_018946.3 100% Spondyloepimetaphyseal dysplasia, Camera-Genevieve type OMIM

NBAS 15625 NM_015909.3 100% Infantile liver failure syndrome 2 OMIM Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM NBN 7652 NM_002485.4 100% Nijmegen breakage syndrome OMIM

NDE1 17619 NM_001143979.1 100% Lissencephaly 4 (with microcephaly) OMIM

NDP 7678 NM_000266.3 100% Exudative vitreoretinopathy 2, X-linked OMIM Norrie disease OMIM

NDST1 7680 NM_001543.4 100% Mental retardation, autosomal recessive 46 OMIM

NDUFA1 7683 NM_004541.3 100% Mitochondrial complex I deficiency OMIM

NDUFA10 7684 NM_004544.3 98% Leigh syndrome OMIM

NDUFAF2 28086 NM_174889.4 94% Leigh syndrome OMIM Mitochondrial complex I deficiency OMIM

NDUFB11 20372 NM_001135998.2 96% ?Mitochondrial complex I deficiency OMIM Linear skin defects with multiple congenital anomalies 3 OMIM NDUFS1 7707 NM_005006.6 100% Mitochondrial complex I deficiency OMIM

NDUFS4 7711 NM_002495.3 100% Leigh syndrome OMIM Mitochondrial complex I deficiency OMIM

NDUFS7 7714 NM_024407.4 100% Leigh syndrome OMIM

NDUFS8 7715 NM_002496.3 100% Leigh syndrome due to mitochondrial complex I deficiency OMIM

NDUFV1 7716 NM_007103.3 100% Mitochondrial complex I deficiency OMIM

NEK1 7744 NM_012224.2 100% Short-rib thoracic dysplasia 6 with or without polydactyly OMIM

NEK8 13387 NM_178170.2 100% ?Nephronophthisis 9 OMIM ?Renal-hepatic-pancreatic dysplasia 2 OMIM

NEU1 7758 NM_000434.3 99% Sialidosis, type I OMIM Sialidosis, type II OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NF1 7765 NM_000267.3 95% Leukemia, juvenile myelomonocytic OMIM Neurofibromatosis, familial spinal OMIM Neurofibromatosis, type 1 OMIM Neurofibromatosis-Noonan syndrome OMIM Watson syndrome OMIM NFIX 7788 NM_002501.3 100% Marshall-Smith syndrome OMIM Sotos syndrome 2 OMIM

NFU1 16287 NM_001002755.2 100% Multiple mitochondrial dysfunctions syndrome 1 OMIM

NGLY1 17646 NM_018297.3 100% Congenital disorder of deglycosylation OMIM

NHP2 14377 NM_017838.3 100% Dyskeratosis congenita, autosomal recessive 2 OMIM

NHS 7820 NM_198270.3 98% Cataract 40, X-linked OMIM Nance-Horan syndrome OMIM

NIPBL 28862 NM_133433.3 98% Cornelia de Lange syndrome 1 OMIM

NKX2-1 11825 NM_001079668.2 100% Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress OMIM

NKX2-5 2488 NM_004387.3 100% Hypoplastic left heart syndrome 2 OMIM

NKX3-2 951 NM_001189.3 99% Spondylo-megaepiphyseal-metaphyseal dysplasia OMIM

NLGN3 14289 NM_018977.3 100% {Asperger syndrome susceptibility, X-linked 1} OMIM

NME1 7849 NM_000269.2 100% Neuroblastoma OMIM

NMNAT1 17877 NM_022787.3 100% Leber congenital amaurosis 9 OMIM

NODAL 7865 NM_018055.4 100% Heterotaxy, visceral, 5 OMIM

NOG 7866 NM_005450.4 100% Brachydactyly, type B2 OMIM Multiple synostoses syndrome 1 OMIM Stapes ankylosis with broad thumb and toes OMIM Symphalangism, proximal, 1A OMIM Tarsal-carpal coalition syndrome OMIM NONO 7871 NM_001145410.1 100% Mental retardation, X-linked, syndromic 34 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NOP10 14378 NM_018648.3 100% Dyskeratosis congenita, autosomal recessive 1 OMIM

NOTCH1 7881 NM_017617.4 99% Adams-Oliver syndrome 5 OMIM Aortic valve disease 1 OMIM

NOTCH2 7882 NM_024408.3 99% Alagille syndrome 2 OMIM Hajdu-Cheney syndrome OMIM

NPC1 7897 NM_000271.4 99% Niemann-Pick disease, type C1 OMIM Niemann-Pick disease, type D OMIM

NPC2 14537 NM_006432.3 100% Niemann-pick disease, type C2 OMIM

NPHP1 7905 NM_000272.3 100% Joubert syndrome 4 OMIM Nephronophthisis 1, juvenile OMIM Senior-Loken syndrome-1 OMIM NPHP3 7907 NM_153240.4 99% Meckel syndrome 7 OMIM Nephronophthisis 3 OMIM Renal-hepatic-pancreatic dysplasia 1 OMIM NPHP4 19104 NM_015102.4 99% Nephronophthisis 4 OMIM Senior-Loken syndrome 4 OMIM

NPHS1 7908 NM_004646.3 99% Nephrotic syndrome, type 1 OMIM

NPHS2 13394 NM_014625.3 100% Nephrotic syndrome, type 2 OMIM

NPR2 7944 NM_003995.3 100% Acromesomelic dysplasia, Maroteaux type OMIM Epiphyseal chondrodysplasia, Miura type OMIM Short stature with nonspecific skeletal abnormalities OMIM NR2F1 7975 NM_005654.5 100% Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM

NR2F2 7976 NM_021005.3 100% Congenital heart defects, multiple types, 4 OMIM

NR5A1 7983 NM_004959.4 100% 46, XX sex reversal 4 OMIM 46XY sex reversal 3 OMIM Adrenocortical insufficiency OMIM Premature ovarian failure 7 OMIM Spermatogenic failure 8 OMIM NRAS 7989 NM_002524.4 100% Noonan syndrome 6 OMIM

NRXN1 8008 NM_001135659.2 100% Pitt-Hopkins-like syndrome 2 OMIM

NRXN2 8009 NM_138732.2 99% Autism Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) NSD1 14234 NM_022455.4 100% Beckwith-Wiedemann syndrome OMIM Sotos syndrome 1 OMIM

NSDHL 13398 NM_015922.2 100% CHILD syndrome OMIM CK syndrome OMIM

NSUN2 25994 NM_017755.5 96% Mental retardation, autosomal recessive 5 OMIM

NT5C3A 17820 NM_016489.12 99% Anemia, hemolytic, due to UMPH1 deficiency OMIM

NTRK1 8031 NM_001012331.1 99% Insensitivity to pain, congenital, with anhidrosis OMIM Medullary thyroid carcinoma, familial OMIM

NUBPL 20278 NM_025152.2 99% Mitochondrial complex I deficiency OMIM

NUP107 29914 NM_020401.3 100% Nephrotic syndrome, type 11 OMIM

NUP62 8066 NM_001193357.1 100% Striatonigral degeneration, infantile OMIM

NYX 8082 NM_022567.2 99% Night blindness, congenital stationary (complete), 1A, X- linked OMIM

OBSL1 29092 NM_015311.2 99% 3-M syndrome 2 OMIM

OCRL 8108 NM_000276.3 99% Dent disease 2 OMIM Lowe syndrome OMIM

OFD1 2567 NM_003611.2 94% ?Retinitis pigmentosa 23 OMIM Joubert syndrome 10 OMIM Orofaciodigital syndrome I OMIM Simpson-Golabi-Behmel syndrome, type 2 OMIM OPHN1 8148 NM_002547.2 100% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OMIM

ORC1 8487 NM_004153.3 100% Meier-Gorlin syndrome 1 OMIM

ORC4 8490 NM_002552.4 99% Meier-Gorlin syndrome 2 OMIM

ORC6 17151 NM_014321.3 100% Meier-Gorlin syndrome 3 OMIM

OTC 8512 NM_000531.5 100% Ornithine transcarbamylase deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) OTOGL 26901 NM_173591.3 99% Deafness, autosomal recessive 84B OMIM

OTX2 8522 NM_001270524.1 100% Microphthalmia, syndromic 5 OMIM Pituitary hormone deficiency, combined, 6 OMIM Retinal dystrophy, early-onset, with or without pituitary dysfunction OMIM OXCT1 8527 NM_000436.3 100% Succinyl CoA:3-oxoacid CoA transferase deficiency OMIM

P4HB 8548 NM_000918.3 100% Cole-Carpenter syndrome 1 OMIM

PACS1 30032 NM_018026.3 99% Schuurs-Hoeijmakers syndrome OMIM

PAFAH1B1 8574 NM_000430.3 95% Lissencephaly 1 OMIM Subcortical laminar heterotopia OMIM

PAH 8582 NM_000277.1 100% Phenylketonuria OMIM [Hyperphenylalaninemia, non-PKU mild] OMIM

PAK3 8592 NM_002578.4 99% Mental retardation, X-linked 30/47 OMIM

PALB2 26144 NM_024675.3 100% Fanconi anemia, complementation group N OMIM

PAPSS2 8604 NM_001015880.1 99% Brachyolmia 4 with mild epiphyseal and metaphyseal changes OMIM

PARN 8609 NM_002582.3 100% Dyskeratosis congenita, autosomal recessive 6 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere- related, 4 OMIM PAX2 8616 NM_003987.4 100% Glomerulosclerosis, focal segmental, 7 OMIM Papillorenal syndrome OMIM

PAX3 8617 NM_181457.3 100% Craniofacial-deafness-hand syndrome OMIM Rhabdomyosarcoma 2, alveolar OMIM Waardenburg syndrome, type 1 OMIM Waardenburg syndrome, type 3 OMIM PAX6 8620 NM_000280.4 100% Aniridia OMIM Cataract with late-onset corneal dystrophy OMIM Foveal hypoplasia 1 OMIM Keratitis OMIM Optic nerve hypoplasia OMIM PAX8 8622 NM_003466.3 100% Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia OMIM

PAX9 8623 NM_006194.3 99% Tooth agenesis, selective, 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PC 8636 NM_000920.3 100% Thrombophilia due to protein C deficiency, autosomal dominant OMIM Thrombophilia due to protein C deficiency, autosomal recessive OMIM Pyruvate carboxylase deficiency OMIM PCBD1 8646 NM_000281.3 99% Hyperphenylalaninemia, BH4-deficient, D OMIM

PCCA 8653 NM_000282.3 99% Propionicacidemia OMIM

PCCB 8654 NM_000532.4 100% Propionicacidemia OMIM

PCDH19 14270 NM_001184880.1 100% Epileptic encephalopathy, early infantile, 9 OMIM

PCGF2 12929 NM_007144.2 100% Intellectual disability

PCNT 16068 NM_006031.5 99% Microcephalic osteodysplastic primordial dwarfism, type II OMIM

PCYT1A 8754 NM_005017.3 99% Spondylometaphyseal dysplasia with cone-rod dystrophy OMIM

PDE10A 8772 NM_001130690.2 100% Dyskinesia, limb and orofacial, infantile-onset OMIM Striatal degeneration, autosomal dominant OMIM

PDE4D 8783 NM_001104631.1 100% Acrodysostosis 2, with or without hormone resistance OMIM

PDE6G 8789 NM_002602.3 100% Retinitis pigmentosa 57 OMIM

PDE6H 8790 NM_006205.2 100% Achromatopsia 6 OMIM Retinal cone dystrophy 3 OMIM

PDGFRB 8804 NM_002609.3 99% Basal ganglia calcification, idiopathic, 4 OMIM Kosaki overgrowth syndrome OMIM Myeloproliferative disorder with eosinophilia OMIM Myofibromatosis, infantile, 1 OMIM Premature aging syndrome, Penttinen type OMIM PDHA1 8806 NM_000284.3 99% Pyruvate dehydrogenase E1-alpha deficiency OMIM

PDHX 21350 NM_003477.2 100% Lacticacidemia due to PDX1 Deficiency OMIM

PDSS1 17759 NM_014317.4 98% Coenzyme Q10 deficiency, primary, 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PDSS2 23041 NM_020381.3 99% Coenzyme Q10 deficiency, primary, 3 OMIM

PEPD 8840 NM_000285.3 99% Prolidase deficiency OMIM

PET100 40038 NM_001171155.1 100% Mitochondrial complex IV deficiency OMIM

PEX1 8850 NM_000466.2 100% Heimler syndrome 1 OMIM Peroxisome biogenesis disorder 1A (Zellweger) OMIM Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM PEX10 8851 NM_153818.1 99% Peroxisome biogenesis disorder 6A (Zellweger) OMIM Peroxisome biogenesis disorder 6B OMIM

PEX12 8854 NM_000286.2 100% Peroxisome biogenesis disorder 3A (Zellweger) OMIM Peroxisome biogenesis disorder 3B OMIM

PEX13 8855 NM_002618.3 100% Peroxisome biogenesis disorder 11A (Zellweger) OMIM Peroxisome biogenesis disorder 11B OMIM

PEX14 8856 NM_004565.2 99% Peroxisome biogenesis disorder 13A (Zellweger) OMIM

PEX16 8857 NM_004813.2 100% Peroxisome biogenesis disorder 8A (Zellweger) OMIM Peroxisome biogenesis disorder 8B OMIM

PEX19 9713 NM_002857.3 100% Peroxisome biogenesis disorder 12A (Zellweger) OMIM

PEX2 9717 NM_000318.2 100% Peroxisome biogenesis disorder 5A (Zellweger) OMIM Peroxisome biogenesis disorder 5B OMIM

PEX26 22965 NM_017929.5 100% Peroxisome biogenesis disorder 7A (Zellweger) OMIM Peroxisome biogenesis disorder 7B OMIM

PEX3 8858 NM_003630.2 100% ?Peroxisome biogenesis disorder 10B OMIM Peroxisome biogenesis disorder 10A (Zellweger) OMIM

PEX5 9719 NM_001131025.1 100% Peroxisome biogenesis disorder 2A (Zellweger) OMIM Peroxisome biogenesis disorder 2B OMIM Rhizomelic chondrodysplasia punctata, type 5 OMIM PEX6 8859 NM_000287.3 97% Heimler syndrome 2 OMIM Peroxisome biogenesis disorder 4A (Zellweger) OMIM Peroxisome biogenesis disorder 4B OMIM PEX7 8860 NM_000288.3 99% Peroxisome biogenesis disorder 9B OMIM Rhizomelic chondrodysplasia punctata, type 1 OMIM

PGAP2 17893 NM_001256240.1 100% Hyperphosphatasia with mental retardation syndrome 3 OMIM

PGAP3 23719 NM_033419.4 99% Hyperphosphatasia with mental retardation syndrome 4 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PGK1 8896 NM_000291.3 98% Phosphoglycerate kinase 1 deficiency OMIM

PGM1 8905 NM_002633.2 100% Congenital disorder of glycosylation, type It OMIM

PGM3 8907 NM_001199917.1 100% Immunodeficiency 23 OMIM

PHC1 3182 NM_004426.2 98% ?Microcephaly 11, primary, autosomal recessive OMIM

PHF21A 24156 NM_001101802.1 100% Potocki-Shaffer Syndrome

PHF6 18145 NM_032458.2 98% Borjeson-Forssman-Lehmann syndrome OMIM

PHF8 20672 NM_015107.2 99% Mental retardation syndrome, X-linked, Siderius type OMIM

PHGDH 8923 NM_006623.3 100% Neu-Laxova syndrome 1 OMIM Phosphoglycerate dehydrogenase deficiency OMIM

PHOX2B 9143 NM_003924.3 100% Central hypoventilation syndrome, congenital, with or without Hirschsprung disease OMIM

PIEZO1 28993 NM_001142864.3 99% Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema OMIM Lymphedema, hereditary, III OMIM PIEZO2 26270 NM_022068.3 99% ?Marden-Walker syndrome OMIM Arthrogryposis, distal, type 3 OMIM Arthrogryposis, distal, type 5 OMIM Arthrogryposis, distal, with impaired proprioception and touch OMIM PIGA 8957 NM_002641.3 99% Multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM

PIGG 25985 NM_017733.4 100% Mental retardation, autosomal recessive 53 OMIM

PIGL 8966 NM_004278.3 100% CHIME syndrome OMIM

PIGN 8967 NM_176787.4 100% Multiple congenital anomalies-hypotonia-seizures syndrome 1 OMIM

PIGO 23215 NM_032634.3 100% Hyperphosphatasia with mental retardation syndrome 2 OMIM

PIGT 14938 NM_015937.5 100% ?Paroxysmal nocturnal hemoglobinuria 2 OMIM Multiple congenital anomalies-hypotonia-seizures syndrome 3 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PIGV 26031 NM_017837.3 100% Hyperphosphatasia with mental retardation syndrome 1 OMIM

PIK3CA 8975 NM_006218.3 100% CLOVE syndrome, somatic OMIM Cowden syndrome 5 OMIM Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM PIK3R1 8979 NM_181523.2 100% ?Agammaglobulinemia 7, autosomal recessive OMIM Immunodeficiency 36 OMIM SHORT syndrome OMIM PIK3R2 8980 NM_005027.3 93% Megalencephaly-polymicrogyria-polydactyly- hydrocephalus syndrome 1 OMIM

PITX1 9004 NM_002653.4 98% Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly OMIM Liebenberg syndrome OMIM PITX2 9005 NM_153427.2 100% Anterior segment dysgenesis 4 OMIM Axenfeld-Rieger syndrome, type 1 OMIM Ring dermoid of cornea OMIM PITX3 9006 NM_005029.3 100% Anterior segment dysgenesis 1, multiple subtypes OMIM Cataract 11, multiple types OMIM Cataract 11, syndromic OMIM PKD1L1 18053 NM_138295.4 100% Heterotaxy, visceral, 8, autosomal OMIM

PKHD1 9016 NM_138694.3 100% Polycystic kidney 4, with or without hepatic disease OMIM

PLA2G6 9039 NM_003560.3 100% Infantile neuroaxonal dystrophy 1 OMIM Neurodegeneration with brain iron accumulation 2B OMIM Parkinson disease 14, autosomal recessive OMIM PLCB1 15917 NM_015192.3 100% Epileptic encephalopathy, early infantile, 12 OMIM

PLCB4 9059 NM_000933.3 100% Auriculocondylar syndrome 2 OMIM

PLCE1 17175 NM_016341.3 99% Nephrotic syndrome, type 3 OMIM

PLK4 11397 NM_014264.4 99% Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM

PLOD1 9081 NM_000302.3 100% Ehlers-Danlos syndrome, type VI OMIM

PLOD2 9082 NM_182943.2 99% Bruck syndrome 2 OMIM

PLOD3 9083 NM_001084.4 100% Lysyl hydroxylase 3 deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PLP1 9086 NM_000533.4 100% Pelizaeus-Merzbacher disease OMIM Spastic paraplegia 2, X-linked OMIM

PMM2 9115 NM_000303.2 100% Congenital disorder of glycosylation, type Ia OMIM

PNKP 9154 NM_007254.3 100% Ataxia-oculomotor apraxia 4 OMIM Microcephaly, seizures, and developmental delay OMIM

PNPLA1 21246 NM_001145717.1 100% Ichthyosis, congenital, autosomal recessive 10 OMIM

PNPLA2 30802 NM_020376.3 99% Neutral lipid storage disease with myopathy OMIM

PNPO 30260 NM_018129.3 100% Pyridoxamine 5'-phosphate oxidase deficiency OMIM

PNPT1 23166 NM_033109.4 99% Combined oxidative phosphorylation deficiency 13 OMIM Deafness, autosomal recessive 70 OMIM

POC1A 24488 NM_015426.4 100% Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM

POC1B 30836 NM_172240.2 99% Cone-rod dystrophy 20 OMIM

POGZ 18801 NM_015100.3 99% White-Sutton syndrome OMIM

POLD1 9175 NM_002691.3 96% Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM {Colorectal cancer, susceptibility to, 10} OMIM POLG 9179 NM_002693.2 100% Mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM Mitochondrial DNA depletion syndrome 4B (MNGIE type) OMIM Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) OMIM Progressive external ophthalmoplegia, autosomal dominant 1 OMIM Progressive external ophthalmoplegia, autosomal recessive 1 OMIM POLR1A 17264 NM_015425.4 99% Acrofacial dysostosis, Cincinnati type OMIM

POLR1C 20194 NM_203290.3 100% Leukodystrophy, hypomyelinating, 11 OMIM Treacher Collins syndrome 3 OMIM

POLR1D 20422 NM_015972.3 100% Treacher Collins syndrome 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) POLR3A 30074 NM_007055.3 100% Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM POLR3B 30348 NM_018082.5 100% Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM POMGNT1 19139 NM_017739.3 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 OMIM Retinitis pigmentosa 76 OMIM POMGNT2 25902 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

POMT1 9202 NM_007171.3 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 OMIM POMT2 19743 NM_013382.5 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 OMIM Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 OMIM PORCN 17652 NM_203475.2 100% Focal dermal hypoplasia OMIM

POU1F1 9210 NM_000306.3 100% Pituitary hormone deficiency, combined, 1 OMIM

PPA2 28883 NM_176869.2 99% Sudden cardiac failure, infantile OMIM

PPM1D 9277 NM_003620.3 100% Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold OMIM

PPP1CB 9282 NM_206876.1 100% Noonan syndrome-like disorder with loose anagen hair 2 OMIM

PPP2R1A 9302 NM_014225.5 100% Mental retardation, autosomal dominant 36 OMIM

PPP2R5D 9312 NM_006245.3 100% Mental retardation, autosomal dominant 35 OMIM

PPT1 9325 NM_000310.3 100% Ceroid lipofuscinosis, neuronal, 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PQBP1 9330 NM_005710.2 100% Renpenning syndrome OMIM

PRDM12 13997 NM_021619.2 91% Neuropathy, hereditary sensory and autonomic, type VIII OMIM

PREPL 30228 NM_006036.4 100% ?Myasthenic syndrome, congenital, 22 OMIM

PRKAR1A 9388 NM_002734.4 99% Acrodysostosis 1, with or without hormone resistance OMIM Pigmented nodular adrenocortical disease, primary, 1 OMIM PRKD1 9407 NM_002742.2 100% Congenital heart defects and ectodermal dysplasia OMIM

PRMT7 25557 NM_019023.3 100% Short stature, brachydactyly, intellectual developmental disability, and seizures OMIM

PROP1 9455 NM_006261.4 98% Pituitary hormone deficiency, combined, 2 OMIM

PROSC 9457 NM_007198.3 100% Epilepsy, early-onset, vitamin B6-dependent OMIM

PRPS1 9462 NM_002764.3 100% Arts syndrome OMIM Charcot-Marie-Tooth disease, X-linked recessive, 5 OMIM Deafness, X-linked 1 OMIM Gout, PRPS-related OMIM Phosphoribosylpyrophosphate synthetase superactivity OMIM PRRT2 30500 NM_145239.2 100% Convulsions, familial infantile, with paroxysmal choreoathetosis OMIM Episodic kinesigenic dyskinesia 1 OMIM Seizures, benign familial infantile, 2 OMIM PRRX1 9142 NM_022716.3 100% Agnathia-otocephaly complex OMIM

PRSS12 9477 NM_003619.3 100% Mental retardation, autosomal recessive 1 OMIM

PRSS56 39433 NM_001195129.1 99% Microphthalmia, isolated 6 OMIM

PRUNE 13420 NM_021222.2 100% Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM

PSAP 9498 NM_002778.3 100% Combined SAP deficiency OMIM Gaucher disease, atypical OMIM Krabbe disease, atypical OMIM Metachromatic leukodystrophy due to SAP-b deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PSAT1 19129 NM_058179.3 99% ?Phosphoserine aminotransferase deficiency OMIM Neu-Laxova syndrome 2 OMIM

PSMB8 9545 NM_148919.3 100% Autoinflammation, lipodystrophy, and dermatosis syndrome OMIM

PSPH 9577 NM_004577.3 100% Phosphoserine phosphatase deficiency OMIM

PTCH1 9585 NM_000264.3 99% Basal cell nevus syndrome OMIM Holoprosencephaly 7 OMIM

PTDSS1 9587 NM_014754.2 100% Lenz-Majewski hyperostotic dwarfism OMIM

PTEN 9588 NM_000314.6 100% Bannayan-Riley-Ruvalcaba syndrome OMIM Cowden syndrome 1 OMIM Lhermitte-Duclos syndrome OMIM Macrocephaly/autism syndrome OMIM VATER association with macrocephaly and ventriculomegaly OMIM PTF1A 23734 NM_178161.2 98% Pancreatic agenesis 2 OMIM Pancreatic and cerebellar agenesis OMIM

PTH 9606 NM_000315.3 100% Hypoparathyroidism, autosomal dominant OMIM Hypoparathyroidism, autosomal recessive OMIM

PTH1R 9608 NM_000316.2 100% Chondrodysplasia Blomstrand Type OMIM

PTHLH 9607 NM_198965.1 100% Brachydactyly, type E2 OMIM

PTPN11 9644 NM_002834.4 99% LEOPARD syndrome 1 OMIM Metachondromatosis OMIM Noonan syndrome 1 OMIM PTPN14 9647 NM_005401.4 99% Choanal atresia and lymphedema OMIM

PTS 9689 NM_000317.2 100% Hyperphenylalaninemia, BH4-deficient, A OMIM

PUF60 17042 NM_078480.2 100% Verheij syndrome OMIM

PURA 9701 NM_005859.4 99% Mental retardation, autosomal dominant 31 OMIM

PVRL4 19688 NM_030916.2 100% Ectodermal dysplasia-syndactyly syndrome 1 OMIM

PXDN 14966 NM_012293.2 99% Anterior segment dysgenesis 7, with sclerocornea OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) PYCR1 9721 NM_006907.3 100% Cutis laxa, autosomal recessive, type IIB OMIM

PYCR2 30262 NM_013328.3 100% Leukodystrophy, hypomyelinating, 10 OMIM

PYGL 9725 NM_002863.4 100% Glycogen storage disease VI OMIM

PYROXD1 26162 NM_024854.4 98% Myopathy, myofibrillar, 8 OMIM

QARS 9751 NM_005051.2 100% Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy OMIM

QDPR 9752 NM_000320.2 100% Hyperphenylalaninemia, BH4-deficient, C OMIM

QRICH1 24713 NM_198880.2 100% QRICH1 syndrome

RAB18 14244 NM_021252.4 100% Warburg micro syndrome 3 OMIM

RAB23 14263 NM_183227.2 100% Carpenter syndrome OMIM

RAB39B 16499 NM_171998.3 100% ?Waisman syndrome OMIM Mental retardation, X-linked 72 OMIM

RAB3GAP1 17063 NM_012233.2 100% Warburg micro syndrome 1 OMIM

RAB3GAP2 17168 NM_012414.3 99% Martsolf syndrome OMIM Warburg micro syndrome 2 OMIM

RAD21 9811 NM_006265.2 99% Cornelia de Lange syndrome 4 OMIM

RAD50 9816 NM_005732.3 99% Nijmegen breakage syndrome-like disorder OMIM

RAD51C 9820 NM_058216.2 100% Fanconi anemia, complementation group O OMIM

RAF1 9829 NM_002880.3 100% LEOPARD syndrome 2 OMIM Noonan syndrome 5 OMIM

RAI1 9834 NM_030665.3 100% Smith-Magenis syndrome OMIM

RAPSN 9863 NM_005055.4 99% Fetal akinesia deformation sequence OMIM Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) RARB 9865 NM_000965.4 100% Microphthalmia, syndromic 12 OMIM

RARS2 21406 NM_020320.4 100% Pontocerebellar hypoplasia, type 6 OMIM

RASA1 9871 NM_002890.2 98% Capillary malformation-arteriovenous malformation OMIM

RAX 18662 NM_013435.2 99% Dystonia 16 OMIM Microphthalmia, isolated 3 OMIM

RBM10 9896 NM_005676.4 100% TARP syndrome OMIM

RBM28 21863 NM_018077.2 100% ?Alopecia, neurologic defects, and endocrinopathy syndrome OMIM

RBM8A 9905 NM_005105.4 100% Thrombocytopenia-absent radius syndrome OMIM

RBPJ 5724 NM_005349.3 99% Adams-Oliver syndrome 3 OMIM

RECQL4 9949 NM_004260.3 99% Baller-Gerold syndrome OMIM RAPADILINO syndrome OMIM Rothmund-Thomson syndrome OMIM RELN 9957 NM_005045.3 100% Lissencephaly 2 (Norman-Roberts type) OMIM {Epilepsy, familial temporal lobe, 7} OMIM

RERE 9965 NM_012102.3 96% Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart OMIM

RET 9967 NM_020975.4 99% Central hypoventilation syndrome, congenital OMIM Medullary thyroid carcinoma OMIM Multiple endocrine neoplasia IIA OMIM Multiple endocrine neoplasia IIB OMIM Pheochromocytoma OMIM RFT1 30220 NM_052859.3 100% Congenital disorder of glycosylation, type In OMIM

RFX6 21478 NM_173560.3 100% Mitchell-Riley syndrome OMIM

RIN2 18750 NM_018993.3 100% Macrocephaly, alopecia, cutis laxa, and scoliosis OMIM

RIPK4 496 NM_020639.2 100% Popliteal pterygium syndrome, Bartsocas-Papas type OMIM

RIT1 10023 NM_006912.5 100% Noonan syndrome 8 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) RLIM 13429 NM_016120.3 100% Mental retardation, X-linked 61 OMIM

RMND1 21176 NM_017909.3 100% Combined oxidative phosphorylation deficiency 11 OMIM

RNASEH2A 18518 NM_006397.2 100% Aicardi-Goutieres syndrome 4 OMIM

RNASEH2B 25671 NM_024570.3 100% Aicardi-Goutieres syndrome 2 OMIM

RNASEH2C 24116 NM_032193.3 100% Aicardi-Goutieres syndrome 3 OMIM

RNASET2 21686 NM_003730.4 99% Leukoencephalopathy, cystic, without megalencephaly OMIM

RNF135 21158 NM_032322.3 99% Macrocephaly, macrosomia, facial dysmorphism syndrome OMIM

RNF168 26661 NM_152617.3 100% RIDDLE syndrome OMIM

ROBO3 13433 NM_022370.3 99% Gaze palsy, familial horizontal, with progressive scoliosis, 1 OMIM

ROGDI 29478 NM_024589.2 99% Kohlschutter-Tonz syndrome OMIM

ROR2 10257 NM_004560.3 100% Brachydactyly, type B1 OMIM Robinow syndrome, autosomal recessive OMIM

RPE65 10294 NM_000329.2 100% Leber congenital amaurosis 2 OMIM Retinitis pigmentosa 20 OMIM

RPGRIP1 13436 NM_020366.3 100% Cone-rod dystrophy 13 OMIM Leber congenital amaurosis 6 OMIM

RPGRIP1L 29168 NM_015272.4 96% COACH syndrome OMIM Joubert syndrome 7 OMIM Meckel syndrome 5 OMIM RPS19 10402 NM_001022.3 100% Diamond-Blackfan anemia 1 OMIM

RPS6KA3 10432 NM_004586.2 99% Coffin-Lowry syndrome OMIM Mental retardation, X-linked 19 OMIM

RRAS 10447 NM_006270.4 99% Atypical Noonan Syndrome Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) RRM2B 17296 NM_015713.4 100% Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) OMIM Mitochondrial DNA depletion syndrome 8B (MNGIE type) OMIM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM RSPH1 12371 NM_080860.3 100% Ciliary dyskinesia, primary, 24 OMIM

RSPH3 21054 NM_031924.5 100% Ciliary dyskinesia, primary, 32 OMIM

RSPO4 16175 NM_001029871.3 100% Anonychia congenita OMIM

RSPRY1 29420 NM_133368.2 100% Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type OMIM

RTEL1 15888 NM_032957.4 99% Dyskeratosis congenita, autosomal dominant 4 OMIM Dyskeratosis congenita, autosomal recessive 5 OMIM Pulmonary fibrosis and/or bone marrow failure, telomere- related, 3 OMIM RTN4IP1 18647 NM_032730.5 100% Optic atrophy 10 with or without ataxia, mental retardation, and seizures OMIM

RTTN 18654 NM_173630.3 99% Microcephaly, short stature, and polymicrogyria with seizures OMIM

RUNX2 10472 NM_001024630.3 100% Cleidocranial dysplasia OMIM Cleidocranial dysplasia, forme fruste, dental anomalies only OMIM Cleidocranial dysplasia, forme fruste, with brachydactyly OMIM Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly OMIM RYR1 10483 NM_000540.2 99% Central core disease OMIM King-Denborough syndrome OMIM Minicore myopathy with external ophthalmoplegia OMIM Neuromuscular disease, congenital, with uniform type 1 fiber OMIM {Malignant hyperthermia susceptibility 1} OMIM SACS 10519 NM_014363.5 100% Spastic ataxia, Charlevoix-Saguenay type OMIM

SALL1 10524 NM_002968.2 99% Townes-Brocks branchiootorenal-like syndrome OMIM Townes-Brocks syndrome 1 OMIM

SALL4 15924 NM_020436.4 99% Duane-radial ray syndrome OMIM IVIC syndrome OMIM

SAMHD1 15925 NM_015474.3 100% ?Chilblain lupus 2 OMIM Aicardi-Goutieres syndrome 5 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SATB2 21637 NM_015265.3 99% Glass syndrome OMIM

SBDS 19440 NM_016038.3 100% Shwachman-Diamond syndrome OMIM

SC5D 10547 NM_006918.4 100% Lathosterolosis OMIM

SCARF2 19869 NM_153334.6 99% Van den Ende-Gupta syndrome OMIM

SCN11A 10583 NM_014139.2 99% Episodic pain syndrome, familial, 3 OMIM Neuropathy, hereditary sensory and autonomic, type VII OMIM SCN1A 10585 NM_001165963.1 100% Epilepsy, generalized, with febrile seizures plus, type 2 OMIM Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) OMIM Febrile seizures, familial, 3A OMIM Migraine, familial hemiplegic, 3 OMIM SCN1B 10586 NM_001037.4 98% Atrial fibrillation, familial, 13 OMIM Epilepsy, generalized, with febrile seizures plus, type 1 OMIM Epileptic encephalopathy, early infantile, 52 OMIM SCN2A 10588 NM_021007.2 99% Epileptic encephalopathy, early infantile, 11 OMIM Seizures, benign familial infantile, 3 OMIM

SCN3A 10590 NM_006922.3 100% Focal epilepsy

SCN4A 10591 NM_000334.4 100% Hyperkalemic periodic paralysis, type 2 OMIM Hypokalemic periodic paralysis, type 2 OMIM Myasthenic syndrome, congenital, 16 OMIM Myotonia congenita, atypical, acetazolamide-responsive OMIM Paramyotonia congenita OMIM SCN8A 10596 NM_014191.3 99% ?Cognitive impairment with or without cerebellar ataxia OMIM Epileptic encephalopathy, early infantile, 13 OMIM Seizures, benign familial infantile, 5 OMIM SCO1 10603 NM_004589.3 99% Mitochondrial complex IV deficiency OMIM

SCO2 10604 NM_005138.2 100% Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 OMIM Myopia 6 OMIM SCYL1 14372 NM_020680.3 100% Spinocerebellar ataxia, autosomal recessive 21 OMIM

SDCCAG8 10671 NM_006642.4 100% Bardet-Biedl syndrome 16 OMIM Senior-Loken syndrome 7 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SDHA 10680 NM_004168.3 88% Leigh syndrome OMIM Mitochondrial respiratory chain complex II deficiency OMIM Paragangliomas 5 OMIM SDHAF1 33867 NM_001042631.2 100% Mitochondrial complex II deficiency OMIM

SEC23B 10702 NM_006363.4 99% Cowden syndrome 7 OMIM Dyserythropoietic anemia, congenital, type II OMIM

SEC24D 10706 NM_014822.3 100% Cole-Carpenter syndrome 2 OMIM

SECISBP2 30972 NM_024077.4 100% Thyroid hormone metabolism, abnormal OMIM

SET 10760 NM_001122821.1 97% SET syndrome

SETBP1 15573 NM_015559.2 98% Mental retardation, autosomal dominant 29 OMIM Schinzel-Giedion midface retraction syndrome OMIM

SETD1A 29010 NM_014712.2 99% Intellectual disability

SETD5 25566 NM_001080517.2 100% Mental retardation, autosomal dominant 23 OMIM

SF3B4 10771 NM_005850.4 100% Acrofacial dysostosis 1, Nager type OMIM

SGSH 10818 NM_000199.3 97% Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM

SH3PXD2B 29242 NM_001017995.2 100% Frank-ter Haar syndrome OMIM

SHANK1 15474 NM_016148.3 97% Autism

SHANK3 14294 NM_033517.1 93% Phelan-McDermid syndrome OMIM

SHH 10848 NM_000193.3 99% Holoprosencephaly 3 OMIM Microphthalmia with coloboma 5 OMIM Single median maxillary central incisor OMIM SHOC2 15454 NM_007373.3 100% Noonan-like syndrome with loose anagen hair OMIM

SHOX 10853 NM_000451.3 98% Langer mesomelic dysplasia OMIM Leri-Weill dyschondrosteosis OMIM Short stature, idiopathic familial OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SHROOM3 30422 NM_020859.3 99% Neural tube defect

SIK1 11142 NM_173354.4 99% Epileptic encephalopathy, early infantile, 30 OMIM

SIL1 24624 NM_022464.4 100% Marinesco-Sjogren syndrome OMIM

SIN3A 19353 NM_001145357.1 100% Witteveen-Kolk syndrome OMIM

SIX1 10887 NM_005982.3 99% Branchiootic syndrome 3 OMIM Deafness, autosomal dominant 23 OMIM

SIX3 10889 NM_005413.3 100% Holoprosencephaly 2 OMIM Schizencephaly OMIM

SIX5 10891 NM_175875.4 98% Branchiootorenal syndrome 2 OMIM

SKI 10896 NM_003036.3 99% Shprintzen-Goldberg syndrome OMIM

SKIV2L 10898 NM_006929.4 100% Trichohepatoenteric syndrome 2 OMIM

SLC12A6 10914 NM_133647.1 100% Agenesis of the corpus callosum with peripheral neuropathy OMIM

SLC13A5 23089 NM_177550.4 100% Epileptic encephalopathy, early infantile, 25 OMIM

SLC16A2 10923 NM_006517.4 98% Allan-Herndon-Dudley syndrome OMIM

SLC17A5 10933 NM_012434.4 100% Salla disease OMIM Sialic acid storage disorder, infantile OMIM

SLC19A3 16266 NM_025243.3 100% Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) OMIM

SLC1A2 10940 NM_004171.3 100% Epileptic encephalopathy, early infantile, 41 OMIM

SLC22A5 10969 NM_003060.3 100% Carnitine deficiency, systemic primary OMIM

SLC24A4 10978 NM_153646.3 99% Amelogenesis imperfecta, type IIA5 OMIM

SLC25A15 10985 NM_014252.3 99% Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SLC25A19 14409 NM_021734.4 100% Microcephaly, Amish type OMIM Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) OMIM SLC25A20 1421 NM_000387.5 100% Carnitine-acylcarnitine translocase deficiency OMIM

SLC25A22 19954 NM_024698.5 100% Epileptic encephalopathy, early infantile, 3 OMIM

SLC25A26 20661 NM_173471.3 100% Combined oxidative phosphorylation deficiency 28 OMIM

SLC25A38 26054 NM_017875.2 100% Anemia, sideroblastic, 2, pyridoxine-refractory OMIM

SLC25A4 10990 NM_001151.3 100% Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD OMIM Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR OMIM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM SLC26A2 10994 NM_000112.3 100% Achondrogenesis Ib OMIM Atelosteogenesis II OMIM De la Chapelle dysplasia OMIM Diastrophic dysplasia OMIM Diastrophic dysplasia, broad bone-platyspondylic variant OMIM Epiphyseal dysplasia, multiple, 4 OMIM SLC27A4 10998 NM_005094.3 100% Ichthyosis prematurity syndrome OMIM

SLC2A1 11005 NM_006516.2 100% Dystonia 9 OMIM GLUT1 deficiency syndrome 1, infantile onset, severe OMIM GLUT1 deficiency syndrome 2, childhood onset OMIM Stomatin-deficient cryohydrocytosis with neurologic defects OMIM SLC2A10 13444 NM_030777.3 100% Arterial tortuosity syndrome OMIM

SLC2A2 11006 NM_000340.1 100% Fanconi-Bickel syndrome OMIM

SLC33A1 95 NM_004733.3 99% Congenital cataracts, hearing loss, and neurodegeneration OMIM Spastic paraplegia 42, autosomal dominant OMIM SLC35A1 11021 NM_006416.4 100% Congenital disorder of glycosylation, type IIf OMIM

SLC35A2 11022 NM_001042498.2 99% Congenital disorder of glycosylation, type IIm OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SLC35C1 20197 NM_018389.4 100% Congenital disorder of glycosylation, type IIc OMIM

SLC35D1 20800 NM_015139.2 99% Schneckenbecken dysplasia OMIM

SLC39A13 20859 NM_152264.4 100% Spondylocheirodysplasia, Ehlers-Danlos syndrome-like OMIM

SLC39A8 20862 NM_001135147.1 100% Congenital disorder of glycosylation, type IIn OMIM

SLC46A1 30521 NM_080669.5 99% Folate malabsorption, hereditary OMIM

SLC4A1 11027 NM_000342.3 100% Cryohydrocytosis OMIM Ovalocytosis, SA type OMIM Renal tubular acidosis, distal, AD OMIM Renal tubular acidosis, distal, AR OMIM SLC4A11 16438 NM_032034.3 100% Corneal endothelial dystrophy and perceptive deafness OMIM Corneal endothelial dystrophy, autosomal recessive OMIM SLC4A4 11030 NM_003759.3 100% Renal tubular acidosis, proximal, with ocular abnormalities OMIM

SLC52A3 16187 NM_033409.3 100% ?Fazio-Londe disease OMIM Brown-Vialetto-Van Laere syndrome 1 OMIM

SLC5A5 11040 NM_000453.2 100% Thyroid dyshormonogenesis 1 OMIM

SLC5A7 14025 NM_021815.4 100% Myasthenic syndrome, congenital, 20, presynaptic OMIM Neuronopathy, distal hereditary motor, type VIIA OMIM

SLC6A1 11042 NM_003042.3 100% Myoclonic-atonic epilepsy OMIM

SLC6A17 31399 NM_001010898.3 100% Mental retardation, autosomal recessive 48 OMIM

SLC6A3 11049 NM_001044.4 100% Parkinsonism-dystonia, infantile OMIM

SLC6A5 11051 NM_004211.4 100% Hyperekplexia 3 OMIM

SLC6A8 11055 NM_005629.3 98% Cerebral creatine deficiency syndrome 1 OMIM

SLC6A9 11056 NM_001024845.2 100% Glycine encephalopathy with normal serum glycine OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SLC9A6 11079 NM_006359.2 100% Mental retardation, X-linked syndromic, Christianson type OMIM

SLX4 23845 NM_032444.3 100% Fanconi anemia, complementation group P OMIM

SMAD3 6769 NM_005902.3 99% Loeys-Dietz syndrome 3 OMIM

SMAD4 6770 NM_005359.5 100% Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome OMIM Myhre syndrome OMIM SMARCA2 11098 NM_003070.4 98% Nicolaides-Baraitser syndrome OMIM

SMARCA4 11100 NM_001128849.1 99% Coffin-Siris syndrome 4 OMIM

SMARCAL1 11102 NM_014140.3 100% Schimke immunoosseous dysplasia OMIM

SMARCB1 11103 NM_003073.4 100% Coffin-Siris syndrome 3 OMIM

SMARCE1 11109 NM_003079.4 99% Coffin-Siris syndrome 5 OMIM

SMC1A 11111 NM_006306.3 100% Cornelia de Lange syndrome 2 OMIM

SMC3 2468 NM_005445.3 97% Cornelia de Lange syndrome 3 OMIM

SMCHD1 29090 NM_015295.2 99% Bosma arhinia microphthalmia syndrome OMIM

SMG9 25763 NM_019108.3 100% Heart and brain malformation syndrome OMIM

SMO 11119 NM_005631.4 99% Curry-Jones syndrome, somatic mosaic OMIM

SMOC1 20318 NM_001034852.2 100% Microphthalmia with limb anomalies OMIM

SMOC2 20323 NM_022138.2 99% Dentin dysplasia, type I, with microdontia and misshapen teeth OMIM

SMPD1 11120 NM_000543.4 99% Niemann-Pick disease, type A OMIM Niemann-Pick disease, type B OMIM

SMS 11123 NM_004595.4 95% Smith-Magenis syndrome OMIM Mental retardation, X-linked, Snyder-Robinson type OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SNAP29 11133 NM_004782.3 100% Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM

SNIP1 30587 NM_024700.3 100% Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM

SNRPB 11153 NM_003091.3 100% Cerebrocostomandibular syndrome OMIM

SNRPE 11161 NM_003094.3 100% Hypotrichosis 11 OMIM

SNX14 14977 NM_020468.5 99% Spinocerebellar ataxia, autosomal recessive 20 OMIM

SOBP 29256 NM_018013.3 99% Mental retardation, anterior maxillary protrusion, and strabismus OMIM

SON 11183 NM_032195.2 99% ZTTK syndrome OMIM

SOS1 11187 NM_005633.3 99% Noonan syndrome 4 OMIM

SOX10 11190 NM_006941.3 100% PCWH syndrome OMIM Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM Waardenburg syndrome, type 4C OMIM SOX11 11191 NM_003108.3 100% Mental retardation, autosomal dominant, 27 OMIM

SOX17 18122 NM_022454.3 100% Vesicoureteral reflux 3 OMIM

SOX2 11195 NM_003106.3 100% Microphthalmia, syndromic 3 OMIM Optic nerve hypoplasia and abnormalities of the central nervous system OMIM SOX3 11199 NM_005634.2 98% Mental retardation, X-linked, with isolated growth hormone deficiency OMIM Panhypopituitarism, X-linked OMIM SOX5 11201 NM_006940.5 100% Lamb-Shaffer syndrome OMIM

SOX9 11204 NM_000346.3 100% Acampomelic campomelic dysplasia OMIM Campomelic dysplasia OMIM Campomelic dysplasia with autosomal sex reversal OMIM SPAG1 11212 NM_172218.2 99% Ciliary dyskinesia, primary, 28 OMIM

SPARC 11219 NM_003118.3 100% Osteogenesis imperfecta, type XVII OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SPATA5 18119 NM_145207.2 100% Epilepsy, hearing loss, and mental retardation syndrome OMIM

SPECC1L 29022 NM_015330.4 100% ?Facial clefting, oblique, 1 OMIM Opitz GBBB syndrome, type II OMIM

SPEG 16901 NM_005876.4 99% Centronuclear myopathy 5 OMIM

SPG11 11226 NM_025137.3 99% Amyotrophic lateral sclerosis 5, juvenile OMIM Charcot-Marie-Tooth disease, axonal, type 2X OMIM Spastic paraplegia 11, autosomal recessive OMIM SPR 11257 NM_003124.4 99% Dystonia, dopa-responsive, due to sepiapterin reductase deficiency OMIM

SPRED1 20249 NM_152594.2 100% Legius syndrome OMIM

SPTAN1 11273 NM_001130438.2 100% Epileptic encephalopathy, early infantile, 5 OMIM

SPTLC2 11278 NM_004863.3 100% Neuropathy, hereditary sensory and autonomic, type IC OMIM

SRCAP 16974 NM_006662.2 99% Floating-Harbor syndrome OMIM

SRD5A3 25812 NM_024592.4 100% Congenital disorder of glycosylation, type Iq OMIM Kahrizi syndrome OMIM

SRPX2 30668 NM_014467.2 100% ?Rolandic epilepsy, mental retardation, and speech dyspraxia OMIM

SRY 11311 NM_003140.2 40% 46XX sex reversal 1 OMIM 46XY sex reversal 1 OMIM

ST14 11344 NM_021978.3 100% Ichthyosis, congenital, autosomal recessive 11 OMIM

ST3GAL3 10866 NM_006279.4 100% ?Epileptic encephalopathy, early infantile, 15 OMIM Mental retardation, autosomal recessive 12 OMIM

ST3GAL5 10872 NM_003896.3 96% Salt and pepper developmental regression syndrome OMIM

STAG1 11354 NM_005862.2 99% STAG1 Syndromic Intellectual Disability

STAMBP 16950 NM_006463.4 100% Microcephaly-capillary malformation syndrome OMIM

STAR 11359 NM_000349.2 100% Lipoid adrenal hyperplasia OMIM STAR syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) STAT1 11362 NM_007315.3 99% Immunodeficiency 31A, mycobacteriosis, autosomal dominant OMIM Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive OMIM Immunodeficiency 31C, autosomal dominant OMIM STAT5B 11367 NM_012448.3 96% Growth hormone insensitivity with immunodeficiency OMIM

STIL 10879 NM_003035.2 100% Microcephaly 7, primary, autosomal recessive OMIM

STRA6 30650 NM_022369.3 100% Microphthalmia, isolated, with coloboma 8 OMIM Microphthalmia, syndromic 9 OMIM

STS 11425 NM_000351.5 99% Ichthyosis, X-linked OMIM

STT3A 6172 NM_001278503.1 100% ?Congenital disorder of glycosylation, type Iw OMIM

STT3B 30611 NM_178862.2 100% ?Congenital disorder of glycosylation, type Ix OMIM

STX1B 18539 NM_052874.4 100% Generalized epilepsy with febrile seizures plus, type 9 OMIM

STXBP1 11444 NM_003165.3 100% Epileptic encephalopathy, early infantile, 4 OMIM

SUCLG1 11449 NM_003849.3 100% Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM SUMF1 20376 NM_182760.3 99% Multiple sulfatase deficiency OMIM

SURF1 11474 NM_003172.3 91% Charcot-Marie-Tooth disease, type 4K OMIM Leigh syndrome, due to COX IV deficiency OMIM

SUV420H1 24283 NM_017635.4 100% KMT5B syndrome

SYN1 11494 NM_133499.2 94% Epilepsy, X-linked, with variable learning disabilities and behavior disorders OMIM

SYNE1 17089 NM_033071.3 100% Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM Spinocerebellar ataxia, autosomal recessive 8 OMIM SYNGAP1 11497 NM_006772.2 98% Mental retardation, autosomal dominant 5 OMIM

SYP 11506 NM_003179.2 100% Mental retardation, X-linked 96 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) SZT2 29040 NM_015284.3 100% Epileptic encephalopathy, early infantile, 18 OMIM

TAB2 17075 NM_015093.5 100% Congenital heart defects, nonsyndromic, 2 OMIM

TAC3 11521 NM_013251.3 100% Hypogonadotropic hypogonadism 10 with or without anosmia OMIM

TACO1 24316 NM_016360.3 99% Mitochondrial complex IV deficiency OMIM

TACR3 11528 NM_001059.2 100% Hypogonadotropic hypogonadism 11 with or without anosmia OMIM

TAF1 11535 NM_004606.4 99% Dystonia-Parkinsonism, X-linked OMIM Mental retardation, X-linked, syndromic 33 OMIM

TAF2 11536 NM_003184.3 99% Mental retardation, autosomal recessive 40 OMIM

TANGO2 25439 NM_001283186.2 100% Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration OMIM TAPT1 26887 NM_153365.2 94% Osteochondrodysplasia, complex lethal, Symoens-Barnes- Gistelinck type OMIM

TAT 11573 NM_000353.2 100% Tyrosinemia, type II OMIM

TAZ 11577 NM_000116.4 100% Barth syndrome OMIM

TBC1D24 29203 NM_001199107.1 100% Deafness , autosomal recessive 86 OMIM Deafness, autosomal dominant 65 OMIM DOOR syndrome OMIM Epileptic encephalopathy, early infantile, 16 OMIM Myoclonic epilepsy, infantile, familial OMIM TBCD 11581 NM_005993.4 99% Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum OMIM

TBCE 11582 NM_003193.4 100% Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM Hypoparathyroidism-retardation-dysmorphism syndrome OMIM Kenny-Caffey syndrome, type 1 OMIM TBCK 28261 NM_001163436.2 99% Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 OMIM

TBL1XR1 29529 NM_024665.5 99% Mental retardation, autosomal dominant 41 OMIM Pierpont syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TBR1 11590 NM_006593.3 100% Autism

TBX1 11592 NM_080647.1 86% DiGeorge syndrome OMIM Tetralogy of Fallot OMIM Velocardiofacial syndrome OMIM TBX15 11594 NM_152380.2 100% Cousin syndrome OMIM

TBX18 11595 NM_001080508.2 99% Congenital anomalies of kidney and urinary tract 2 OMIM

TBX20 11598 NM_001077653.2 100% Atrial septal defect 4 OMIM

TBX22 11600 NM_001109878.1 100% Cleft palate with ankyloglossia OMIM

TBX3 11602 NM_005996.3 99% Ulnar-mammary syndrome OMIM

TBX4 11603 NM_018488.3 99% Ischiocoxopodopatellar syndrome OMIM

TBX5 11604 NM_000192.3 100% Holt-Oram syndrome OMIM

TBXAS1 11609 NM_001061.4 100% ?Thromboxane synthase deficiency OMIM Ghosal hematodiaphyseal syndrome OMIM

TCF12 11623 NM_207036.1 100% Craniosynostosis 3 OMIM

TCF20 11631 NM_005650.3 100% TCF20 syndrome

TCF4 11634 NM_001083962.1 100% Corneal dystrophy, Fuchs endothelial, 3 OMIM Pitt-Hopkins syndrome OMIM

TCN2 11653 NM_000355.3 100% Transcobalamin II deficiency OMIM

TCOF1 11654 NM_001135243.1 99% Treacher Collins syndrome 1 OMIM

TCTN1 26113 NM_001082538.2 99% Joubert syndrome 13 OMIM

TCTN2 25774 NM_024809.4 100% ?Meckel syndrome 8 OMIM Joubert syndrome 24 OMIM

TCTN3 24519 NM_015631.5 100% Joubert syndrome 18 OMIM Orofaciodigital syndrome IV OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TECPR2 19957 NM_014844.4 100% Spastic paraplegia 49, autosomal recessive OMIM

TEK 11724 NM_000459.4 100% Glaucoma 3, primary congenital, E OMIM Venous malformations, multiple cutaneous and mucosal OMIM TELO2 29099 NM_016111.3 99% You-Hoover-Fong syndrome OMIM

TERT 11730 NM_198253.2 99% {Dyskeratosis congenita, autosomal dominant 2} OMIM {Dyskeratosis congenita, autosomal recessive 4} OMIM

TFAP2A 11742 NM_003220.2 100% Branchiooculofacial syndrome OMIM

TFAP2B 11743 NM_003221.3 100% Char syndrome OMIM Patent ductus arteriosus 2 OMIM

TGDS 20324 NM_014305.3 100% Catel-Manzke syndrome OMIM

TGFB1 11766 NM_000660.6 99% Camurati-Engelmann disease OMIM

TGFB2 11768 NM_003238.4 100% Loeys-Dietz syndrome 4 OMIM

TGFB3 11769 NM_003239.4 100% Arrhythmogenic right ventricular dysplasia 1 OMIM Loeys-Dietz syndrome 5 OMIM

TGFBR1 11772 NM_004612.3 95% Loeys-Dietz syndrome 1 OMIM {Multiple self-healing squamous epithelioma, susceptibility to} OMIM TGFBR2 11773 NM_003242.5 100% Loeys-Dietz syndrome 2 OMIM

TGIF1 11776 NM_173208.2 100% Holoprosencephaly 4 OMIM

TH 11782 NM_199292.2 99% Segawa syndrome, recessive OMIM

THAP1 20856 NM_018105.2 100% Dystonia 6, torsion OMIM

THOC2 19073 NM_001081550.1 99% Mental retardation, X-linked 12/35 OMIM

THOC6 28369 NM_024339.4 100% Beaulieu-Boycott-Innes syndrome OMIM

THRA 11796 NM_199334.3 100% Hypothyroidism, congenital, nongoitrous, 6 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TIMM8A 11817 NM_004085.3 97% Mohr-Tranebjaerg syndrome OMIM

TINF2 11824 NM_001099274.1 100% Dyskeratosis congenita, autosomal dominant 3 OMIM Revesz syndrome OMIM

TK2 11831 NM_004614.4 98% Mitochondrial DNA depletion syndrome 2 (myopathic type) OMIM

TKT 11834 NM_001135055.2 99% Spondylometaepiphyseal dysplasia, short limb-hand type OMIM Short stature, developmental delay, and congenital heart defects OMIM TM4SF20 26230 NM_024795.4 100% {Specific language impairment 5} OMIM

TMCO1 18188 NM_019026.4 100% Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome OMIM

TMEM126B 30883 NM_018480.5 100% Mitochondrial complex I deficiency OMIM

TMEM165 30760 NM_018475.4 100% Congenital disorder of glycosylation, type IIk OMIM

TMEM216 25018 NM_001173990.2 100% Joubert syndrome 2 OMIM Meckel syndrome 2 OMIM

TMEM237 14432 NM_001044385.2 100% Joubert syndrome 14 OMIM

TMEM5 13530 NM_014254.2 99% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 OMIM

TMEM67 28396 NM_153704.5 99% COACH syndrome OMIM Joubert syndrome 6 OMIM Meckel syndrome 3 OMIM Nephronophthisis 11 OMIM TMEM70 26050 NM_017866.5 99% Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 OMIM

TMPRSS6 16517 NM_153609.3 100% Iron-refractory iron deficiency anemia OMIM

TMTC3 26899 NM_181783.3 100% Lissencephaly 8 OMIM

TNFRSF13B 18153 NM_012452.2 100% Immunodeficiency, common variable, 2 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TP63 15979 NM_003722.4 100% ADULT syndrome OMIM Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM Hay-Wells syndrome OMIM Limb-mammary syndrome OMIM Orofacial cleft 8 OMIM Rapp-Hodgkin syndrome OMIM Split-hand/foot malformation 4 OMIM TPM2 12011 NM_003289.3 100% Arthrogryposis multiplex congenita, distal, type 1 OMIM Arthrogryposis, distal, type 2B OMIM CAP myopathy 2 OMIM Nemaline myopathy 4, autosomal dominant OMIM TPP1 2073 NM_000391.3 100% Ceroid lipofuscinosis, neuronal, 2 OMIM Spinocerebellar ataxia, autosomal recessive 7 OMIM

TRAIP 30764 NM_005879.2 100% Seckel syndrome 9 OMIM

TRAPPC11 25751 NM_021942.5 100% Muscular dystrophy, limb-girdle, type 2S OMIM

TRAPPC2 23068 NM_001011658.3 98% Spondyloepiphyseal dysplasia tarda OMIM

TRAPPC9 30832 NM_031466.7 100% Mental retardation, autosomal recessive 13 OMIM

TREX1 12269 NM_033629.4 100% Aicardi-Goutieres syndrome 1, dominant and recessive OMIM Chilblain lupus OMIM Vasculopathy, retinal, with cerebral leukodystrophy OMIM {Systemic lupus erythematosus, susceptibility to} OMIM TRIM32 16380 NM_012210.3 100% ?Bardet-Biedl syndrome 11 OMIM Muscular dystrophy, limb-girdle, type 2H OMIM

TRIM37 7523 NM_015294.4 100% Mulibrey nanism OMIM

TRIO 12303 NM_007118.3 99% Mental retardation, autosomal dominant 44 OMIM

TRIP11 12305 NM_004239.4 99% Achondrogenesis, type IA OMIM

TRIP12 12306 NM_004238.2 99% TRIP12-Related Intellectual Disability with/without Autism Spectrum Disorder

TRIP4 12310 NM_016213.4 100% ?Muscular dystrophy, congenital, Davignon-Chauveau type OMIM Spinal muscular atrophy with congenital bone fractures 1 OMIM TRMT10C 26022 NM_017819.3 100% Combined oxidative phosphorylation deficiency 30 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TRPM1 7146 NM_002420.5 100% Night blindness, congenital stationary (complete), 1C, autosomal recessive OMIM

TRPS1 12340 NM_014112.4 100% Trichorhinophalangeal syndrome, type I OMIM Trichorhinophalangeal syndrome, type III OMIM

TRPV3 18084 NM_145068.3 100% ?Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM Olmsted syndrome OMIM TRPV4 18083 NM_021625.4 100% ?Avascular necrosis of femoral head, primary, 2 OMIM Brachyolmia type 3 OMIM Digital arthropathy-brachydactyly, familial OMIM Hereditary motor and sensory neuropathy, type IIc OMIM Metatropic dysplasia OMIM Parastremmatic dwarfism OMIM Scapuloperoneal spinal muscular atrophy OMIM SED, Maroteaux type OMIM Spinal muscular atrophy, distal, congenital nonprogressive OMIM Spondylometaphyseal dysplasia, Kozlowski type OMIM TSC1 12362 NM_000368.4 99% Focal cortical dysplasia, type II, somatic OMIM Tuberous sclerosis-1 OMIM

TSC2 12363 NM_000548.4 100% Tuberous sclerosis-2 OMIM

TSEN15 16791 NM_052965.3 100% Pontocerebellar hypoplasia, type 2F OMIM

TSEN2 28422 NM_025265.3 100% Pontocerebellar hypoplasia type 2B OMIM

TSEN34 15506 NM_024075.4 98% ?Pontocerebellar hypoplasia type 2C OMIM

TSEN54 27561 NM_207346.2 97% ?Pontocerebellar hypoplasia type 5 OMIM Pontocerebellar hypoplasia type 2A OMIM Pontocerebellar hypoplasia type 4 OMIM TSHB 12372 NM_000549.4 100% Hypothryoidism, congenital, nongoitrous 4 OMIM

TSHR 12373 NM_000369.2 100% Hyperthyroidism, nonautoimmune OMIM Hypothyroidism, congenital, nongoitrous, 1 OMIM

TSPAN7 11854 NM_004615.3 100% Mental retardation, X-linked 58 OMIM

TTC19 26006 NM_017775.3 96% Mitochondrial complex III deficiency, nuclear type 2 OMIM

TTC37 23639 NM_014639.3 100% Trichohepatoenteric syndrome 1 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) TTC7A 19750 NM_020458.3 99% Gastrointestinal defects and immunodeficiency syndrome OMIM

TTC8 20087 NM_198309.3 100% ?Retinitis pigmentosa 51 OMIM Bardet-Biedl syndrome 8 OMIM

TTI2 26262 NM_001102401.2 100% Mental retardation, autosomal recessive 39 OMIM

TUBA1A 20766 NM_006009.3 100% Lissencephaly 3 OMIM

TUBA8 12410 NM_018943.2 100% Cortical dysplasia, complex, with other brain malformations 8 OMIM

TUBB 20778 NM_178014.3 99% Cortical dysplasia, complex, with other brain malformations 6 OMIM Symmetric circumferential skin creases, congenital, 1 OMIM TUBB4A 20774 NM_006087.3 100% Dystonia 4, torsion, autosomal dominant OMIM Leukodystrophy, hypomyelinating, 6 OMIM

TUBGCP4 16691 NM_014444.4 99% Microcephaly and chorioretinopathy, autosomal recessive, 3 OMIM

TUBGCP6 18127 NM_020461.3 100% Microcephaly and chorioretinopathy, autosomal recessive, 1 OMIM

TUFM 12420 NM_003321.4 100% Combined oxidative phosphorylation deficiency 4 OMIM

TUSC3 30242 NM_006765.3 100% Mental retardation, autosomal recessive 7 OMIM

TWIST1 12428 NM_000474.3 99% Craniosynostosis 1 OMIM Robinow-Sorauf syndrome OMIM Saethre-Chotzen syndrome OMIM Saethre-Chotzen syndrome with eyelid anomalies OMIM TWIST2 20670 NM_057179.2 100% Ablepharon-macrostomia syndrome OMIM Barber-Say syndrome OMIM Focal facial dermal dysplasia 3, Setleis type OMIM TXNL4A 30551 NM_006701.4 100% Burn-McKeown syndrome OMIM

TYR 12442 NM_000372.4 100% Albinism, oculocutaneous, type IA OMIM Waardenburg syndrome/albinism, digenic OMIM

TYRP1 12450 NM_000550.2 100% Albinism, oculocutaneous, type III OMIM

UBA5 23230 NM_198329.3 99% ?Spinocerebellar ataxia, autosomal recessive 24 OMIM Epileptic encephalopathy, early infantile, 44 OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) UBE2A 12472 NM_003336.3 100% Mental retardation, X-linked syndromic, Nascimento-type OMIM

UBE2T 25009 NM_014176.3 100% Fanconi anemia, complementation group T OMIM

UBE3A 12496 NM_130838.1 99% Angelman syndrome OMIM

UBE3B 13478 NM_130466.3 100% Kaufman oculocerebrofacial syndrome OMIM

UBR1 16808 NM_174916.2 100% Johanson-Blizzard syndrome OMIM

UGT1A1 12530 NM_000463.2 100% Crigler-Najjar syndrome, type I OMIM Crigler-Najjar syndrome, type II OMIM Hyperbilirubinemia, familial transient neonatal OMIM [Gilbert syndrome] OMIM UMPS 12563 NM_000373.3 100% Orotic aciduria OMIM

UNC80 26582 NM_032504.1 100% Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 OMIM

UPF3B 20439 NM_080632.2 97% Mental retardation, X-linked, syndromic 14 OMIM

UQCRB 12582 NM_006294.4 100% Mitochondrial complex III deficiency, nuclear type 3 OMIM

UQCRQ 29594 NM_014402.4 100% Mitochondrial complex III deficiency, nuclear type 4 OMIM

UROC1 26444 NM_144639.2 100% ?Urocanase deficiency OMIM

UROS 12592 NM_000375.2 100% Porphyria, congenital erythropoietic OMIM

USB1 25792 NM_024598.3 100% Poikiloderma with neutropenia OMIM

USP18 12616 NM_017414.3 95% Pseudo-TORCH syndrome 2 OMIM

USP27X 13486 NM_001145073.2 100% Mental retardation 105 OMIM

USP9X 12632 NM_001039590.2 99% Mental retardation, X-linked 99 OMIM Mental retardation, X-linked 99, syndromic, female- restricted OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) UVSSA 29304 NM_020894.3 100% UV-sensitive syndrome 3 OMIM

VDR 12679 NM_001017535.1 100% Rickets, vitamin D-resistant, type IIA OMIM

VIPAS39 20347 NM_022067.3 100% Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM

VLDLR 12698 NM_003383.4 100% Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 OMIM

VPS13B 2183 NM_017890.4 100% Cohen syndrome OMIM

VPS33B 12712 NM_018668.4 100% Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM

VRK1 12718 NM_003384.2 100% Pontocerebellar hypoplasia type 1A OMIM

VSX2 1975 NM_182894.2 100% Microphthalmia Isolated with Coloboma Type 3 OMIM

WAC 17327 NM_016628.4 100% Desanto-Shinawi syndrome OMIM

WDPCP 28027 NM_015910.5 100% ?Bardet-Biedl syndrome 15 OMIM

WDR11 13831 NM_018117.11 98% Hypogonadotropic hypogonadism 14 with or without anosmia OMIM

WDR19 18340 NM_025132.3 100% Nephronophthisis 13 OMIM Senior-Loken syndrome 8 OMIM

WDR34 28296 NM_052844.3 100% Short-rib thoracic dysplasia 11 with or without polydactyly OMIM

WDR35 29250 NM_001006657.1 99% Cranioectodermal dysplasia 2 OMIM Short-rib thoracic dysplasia 7 with or without polydactyly OMIM WDR45 28912 NM_007075.3 99% Neurodegeneration with brain iron accumulation 5 OMIM

WDR60 21862 NM_018051.4 100% Short-rib thoracic dysplasia 8 with or without polydactyly OMIM

WDR62 24502 NM_001083961.1 99% Microcephaly 2, primary, autosomal recessive, with or without cortical malformations OMIM

WDR73 25928 NM_032856.3 100% Galloway-Mowat syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) WNT1 12774 NM_005430.3 100% Osteogenesis imperfecta, type XV OMIM

WNT10B 12775 NM_003394.3 100% Split-hand/foot malformation 6 OMIM Tooth agenesis, selective, 8 OMIM

WNT3 12782 NM_030753.4 100% ?Tetra-amelia syndrome OMIM

WNT4 12783 NM_030761.4 96% ?SERKAL syndrome OMIM Mullerian aplasia and hyperandrogenism OMIM

WNT5A 12784 NM_003392.4 100% Robinow syndrome, autosomal dominant 1 OMIM

WNT7A 12786 NM_004625.3 100% Fuhrmann syndrome OMIM Ulna and fibula, absence of, with severe limb deficiency OMIM WRAP53 25522 NM_018081.2 100% Dyskeratosis congenita, autosomal recessive 3 OMIM

WT1 12796 NM_024426.4 99% Denys-Drash syndrome OMIM Frasier syndrome OMIM Nephrotic syndrome, type 4 OMIM Wilms tumor, type 1 OMIM WWOX 12799 NM_016373.3 100% Epileptic encephalopathy, early infantile, 28 OMIM Spinocrebellar ataxia, autosomal recessive 12 OMIM

XPA 12814 NM_000380.3 99% Xeroderma pigmentosum, group A OMIM

XPC 12816 NM_004628.4 100% Xeroderma pigmentosum, group C OMIM

XPNPEP3 28052 NM_022098.3 100% Nephronophthisis-like nephropathy 1 OMIM

XRCC4 12831 NM_022406.3 100% Short stature, microcephaly, and endocrine dysfunction OMIM

XYLT1 15516 NM_022166.3 99% Desbuquois dysplasia 2 OMIM

XYLT2 15517 NM_022167.3 100% Spondyloocular syndrome OMIM

YAP1 16262 NM_001130145.2 97% Coloboma, ocular OMIM Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM YY1 12856 NM_003403.4 100% Gabriele-de Vries syndrome OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ZBTB16 12930 NM_006006.4 100% Skeletal defects, genital hypoplasia, and mental retardation OMIM

ZBTB18 13030 NM_205768.2 99% Mental retardation, autosomal dominant 22 OMIM

ZBTB20 13503 NM_001164342.2 100% Primrose syndrome OMIM

ZC4H2 24931 NM_018684.3 100% Wieacker-Wolff syndrome OMIM

ZDHHC15 20342 NM_001146256.1 99% ?Mental retardation, X-linked 91 OMIM

ZDHHC9 18475 NM_016032.3 100% Mental retardation, X-linked syndromic, Raymond type OMIM

ZEB2 14881 NM_014795.3 100% Mowat-Wilson syndrome OMIM

ZFP57 18791 NM_001109809.2 100% Diabetes mellitus, transient neonatal, 1 OMIM

ZFYVE26 20761 NM_015346.3 100% Spastic paraplegia 15, autosomal recessive OMIM

ZIC1 12872 NM_003412.3 100% Craniosynostosis 6 OMIM

ZIC2 12873 NM_007129.4 95% Holoprosencephaly 5 OMIM

ZIC3 12874 NM_003413.3 100% Congenital heart defects, nonsyndromic, 1, X-linked OMIM Heterotaxy, visceral, 1, X-linked OMIM VACTERL association, X-linked OMIM ZMPSTE24 12877 NM_005857.4 100% Mandibuloacral dysplasia with type B lipodystrophy OMIM Restrictive dermopathy, lethal OMIM ZMYND10 19412 NM_015896.3 100% Ciliary dyskinesia, primary, 22 OMIM

ZMYND11 16966 NM_006624.5 100% Mental retardation, autosomal dominant 30 OMIM

ZNF711 13128 NM_021998.4 99% Mental retardation, X-linked 97 OMIM

ZNF750 25843 NM_024702.2 100% Seborrhea-like dermatitis with psoriasiform elements OMIM Gen Gen (HGNC Transkript >10x Fenotype (symbol) ID) ZNHIT3 12309 NM_001281432.1 64% PEHO syndrome OMIM

ZSWIM6 29316 NM_020928.1 96% Acromelic frontonasal dysostosis OMIM