Genpanel, versjon v03
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 (symbol)
Gen (HGNC ID)
Transkript >10x Fenotype
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
