| Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
| 1 | 78 kb Chro8 insertion 78 kb inter-chromosomal insertion (from chro 8q24.3) | Xq26 |  | charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3 (14.39)
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| 2 | AARS Alanyl-tRNA synthetase | 16q22.1 | | Dominant distal hereditary motor neuropathy - (12.30, 14.59)
| | Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.30, 14.59)
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| 3 | AARS2 Alanyl-tRNA synthetase 2, mitochondrial(M) | 6p21.1 | | Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.33)
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| 4 | ABCC9 ATP-binding cassette, sub-family C (member 9) | 16p13.1 | | Cardiomyopathy, dilated, 1O - CMD1O (10.165, 10.52)
| | Atrial fibrillation , 12 - ATFB12 (10.165, 10.52)
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| 5 | ABHD5 Abhydrolase domain containing 5 | 3p25.3-p24.3 | | Chanarin-Dorfman syndrome - CDS (9.27)
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| 6 | ACAD9 Acyl-CoA dehydrogenase family member 9(M) | 3q21.3 | | Mitochondrial complex 1 deficiency, nuclear type 20 - MC1DN20 (9.26)
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| 7 | ACADVL Acyl-Coenzyme A dehydrogenase, very long chain(M) | 17p13 | | Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.25)
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| 8 | ACTA1 Alpha actin, skeletal muscle | 1q42.1 | | myopathy, congenital, with fiber-type disproportion - CFTD (2.48, 3.3, 3.15, 3.43)
| | Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.48, 3.3, 3.15, 3.43)
| | Left ventricular noncompaction 4 - LVNC4 (2.48, 3.3, 3.15, 3.43)
| | Nemaline myopathy 3 - NEM3 (2.48, 3.3, 3.15, 3.43)
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| 9 | ACTC1 Actin, alpha, cardiac muscle precursor | 15q11-q14 | | Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.103, 10.55)
| | Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.103, 10.55)
| | Asymmetric septal hypertrophy - ASH (10.10, 10.103, 10.55)
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| 10 | ACTN2 Actinin alpha2 | 1q42-q43 | | Hypertrophic cardiomyopathy related to actinin-2 - (3.56, 4.10, 10.25, 10.64)
| | dilated cardiomyopathy, 1aa - CMD1AA (3.56, 4.10, 10.25, 10.64)
| | Myopathy, distal 6, Adult-onset - MPD6 (3.56, 4.10, 10.25, 10.64)
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| 11 | ACVR1 Activin A receptor, type II-like kinase 2 | 2q23-q24 | | Fibrodysplasia ossificans progressiva - FOP (5.28)
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| 12 | ADCK3 Coenzyme Q8A | 1q42.13 | | spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.65, 16.74)
| | Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.65, 16.74)
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| 13 | ADCY6 Adenylate cyclase 6 | 12q13.12 | | Lethal Congenital Contracture Syndrome 8 - LCCS8 (12.88)
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| 14 | ADGRG6 Adhesion G protein-coupled recptor G6 | 6q24.2 | | Lethal Congenital Contracture Syndrome 9 - LCCS9 (12.89)
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| 15 | ADPRHL2 ADP-Ribosylhydrolase-Like 2 | 1p34.3 | | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS (12.108)
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| 16 | ADSSL1 Adénylosuccinate synthase-like | 14q32-33 | | Myopathy, distal, 5 - MPD5 (4.9)
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| 17 | AFG3L2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M) | 18p11-q11 | | Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
| | Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
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| 18 | AGL Amylo-1,6-glucosidase, 4-alpha-glucanotransferase | 1p21 | | Glycogen storage disease type IIIb - GSD IIIb (9.2)
| | Glycogen storage disease type IIIa - GSD IIIa (9.2)
| | Glycogen storage disease type IIId - GSD IIId (9.2)
| | Glycogen storage disease type IIIc - GSD IIIc (9.2)
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| 19 | AGRN Agrin | 1p36.33 | | Familial limb girdle myasthenia related to agrin - CMS1B (11.16, 16.31)
| | Fetal akinesia deformation related to AGRN - (11.16, 16.31)
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| 20 | AHNAK2 Ahnak nucleoprotein 2 | 14q32 | | Charcot-Marie Tooth disease - (14.35)
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| 21 | AIFM1 Apoptosis-inducing factor, Mitochondria-associated 1(M) | Xq24-q26.1 | | Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.102, 14.40, 16.64)
| | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.102, 14.40, 16.64)
| | Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.102, 14.40, 16.64)
| | Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.102, 14.40, 16.64)
| | Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.102, 14.40, 16.64)
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| 22 | AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 | 7q21.2 | | Long QT syndrome 11 - LQT11 (10.142)
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| 23 | ALDH18A1 Aldehyde deydrogenase 18 family, member A1 (M) | 10q24.1 | | Spastic paraplegia 9 - SPG9A (15.5, 15.25)
| | Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
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| 24 | ALDH3A2 Aldehyde dehydrogenase 3A2 | 17p11.2 | | Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.68)
| | Fatty aldehyde dehydrogenase - FALDH (15.68)
| | Sjogren-Larsson syndrome - SLS (15.68)
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| 25 | ALG13 UDP-N-acetylglucosami-nyltransferase | Xq23 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S
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| 26 | ALG14 UDP-N-acetylglucosaminyltransferase | 1p21.3 | | Myasthenic syndrome, congenital, 15, without tubular aggregates - CMS15 (11.23)
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| 27 | ALG2 Alpha-1,3/1,6-mannosyltransferase | 9q31.1 | | Myasthenic syndrome, congenital, 14, with tubular aggregates - CMS14 (11.22)
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| 28 | ALPK3 Alpha kinase 3 | 15q25.3 | | Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.29)
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| 29 | ALS2 Alsin Rho guanine nucleotide exchange factor 2 | 2q33.2 | | Spastic paralysis, infantile onset ascending - IAHSP (12.48, 15.69)
| | Amyotrophic lateral sclerosis, juvenile - ALS2 (12.48, 15.69)
| | Primary lateral sclerosis, juvenile - PLSJ (12.48, 15.69)
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| 30 | AMPD2 Adenosine monophosphate deaminase 2 | 1p13.3 | | Spastic paraplegia 63, autosomal recessive - SPG63 (15.59)
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| 31 | ANG Angiogenin | 14q11.2 | | amyotrophic lateral sclerosis 9 - ALS9 (12.55)
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| 32 | ANK2 Ankyrin 2 | 4q25-26 | | Long QT syndrome-4 - LQT4 (10.135)
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| 33 | ANKRD1 Ankyrin repeat domain 1 (cardiac muscle) | 10q23.31 | | Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.79)
| | Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.79)
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| 34 | ANO10 Anoctamin 10 | 3p22.1-p21.3 | | Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.66)
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| 35 | ANO5 Anoctamin 5 | 11p14-12 | | Miyoshi muscular dystrophy 3
- MMD3 (1.15, 1.42, 4.3)
| | Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.15, 1.42, 4.3)
| | Muscular dystrophy with gnathodiaphyseal dysplasia - (1.15, 1.42, 4.3)
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| 36 | ANXA11 Annexin A11 | 10q23.3 | | Amytrophic lateral sclerosis 23 - ALS23 (12.105, 12.69)
| | Inclusion body myopathy and brain white matter abnormalities - IBMWMA (12.105, 12.69)
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| 37 | AP4B1 adaptor-related protein complex 4, beta 1 subunit | 1p13.2 | | Spastic paraplegia 47, autosomal recessive - SPG47 (15.46)
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| 38 | AP4E1 Adaptor-related protein complex 4, epsilon-1 subunit | 15q21.2 | | Spastic paraplegia 51, autosomal recessive - SPG51 (15.50)
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| 39 | AP4M1 Adaptor-related protein complex 4, mu 1 subunit | 7q22.1 | | Spastic paraplegia 50, autosomal recessive - SPG50 (15.49)
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| 40 | AP4S1 Adaptor-related protein complex 4, sigma 1 subunit | 14q12 | | Spastic paraplegia 52, autosomal recessive - SPG52 (15.51)
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| 41 | AP5Z1 Hypothetical protein LOC9907 ? | 7p22.2 | | Spastic paraplegia 48, autosomal recessive - SPG48 (15.47)
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| 42 | APOO Apolipoprotein O(M) | Xp22.11 | | Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.82)
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| 43 | APTX Aprataxin | 9p13.3 | | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.58)
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| 44 | AR Androgen receptor | Xq11.2-q12 | | Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.42)
| | Kennedy disease - KD (12.42)
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| 45 | ARHGEF10 Rho guanine nucleotide exchange factor 10 | 8p23 | | Slowed nerve conduction velocity, autosomal dominant - NCV (14.11)
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| 46 | ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 | 16p12.3 | | Spastic paraplegia 61, autosomal recessive - SPG61 (15.57)
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| 47 | ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 | 8p22 | | Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.13)
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| 48 | ASCC1 Activating signal cointegrator 1 complex subunit 1 | 10q22.1 | | Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24)
| | Arthrogryposis related to ASCC1 - (12.12, 16.24)
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| 49 | ATG5 Autophagy 5, S. Cerevisiae, Homolog of | 6q21 | | Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.81)
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| 50 | ATG7 Autophagy-Related 7 | 3p25.3 | | Spinocerebellar ataxia - SCAR31 (13.87)
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| 51 | ATL1 Atlastin GTPase 1 | 14q22.1 | | Neuropathy, hereditary sensory, type ID - HSN1D (14.112, 15.1)
| | Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.112, 15.1)
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| 52 | ATL3 atlastin GTPase 3 | 11q13.1 | | Hereditary sensory neuropathy type IF - HSN IF (14.114)
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| 53 | ATM Ataxia telangiectasia mutated | 11q22.3 | | ataxia telangiectasia - AT (13.93)
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| 54 | ATP13A2 ATPase, type 13A2(M) | 1q36.13 | | Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
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| 55 | ATP1A1 ATPase, Na+/K+ transporting, alpha-1 polypeptide | 1p13.1 | | Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.69)
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| 56 | ATP1A2 ATPase, NA+/K+ transporting alpha-2 polypeptide | 1q23.2 | | Hypokalaemic periodic paralysis - (7.5)
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| 57 | ATP2A1 ATPase, Ca++ transporting, fast twitch 1 | 16p12.1 | | Brody myopathy - ATP2A1 (6.9)
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| 58 | ATP7A ATPase, Cu++ transporting, alpha polypeptide | Xq13-q21 | | Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.44)
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| 59 | ATXN1 Ataxin 1 | 6p22.3 | | Spinocerebellar ataxia 1 - SCA1 (13.1)
| | Olivopontocerebellar atrophy I - OPCA1 (13.1)
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| 60 | ATXN10 Ataxin 10 | 22q13.31 | | Spinocerebellar ataxia 10 - SCA10 (13.9)
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| 61 | ATXN2 Ataxin 2 | 12q24.12 | | Spinocerebellar ataxia 2 - SCA2 (12.59, 13.2)
| | Olivopontocerebellar atrophy II - OPCA (12.59, 13.2)
| | Amyotrophic lateral sclerosis 13 - ALS13 (12.59, 13.2)
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| 62 | ATXN3 Ataxin 3 | 14q32.12 | | Machado-Joseph disease - MJD (13.3)
| | Spinocerebellar ataxia 3 - SCA3 (13.3)
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| 63 | ATXN7 Ataxin 7 | 3p14 | | Spinocerebellar ataxia 7 - SCA7 (13.7)
| | Olivopontocerebellar atrophy III - OPCA3 (13.7)
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| 64 | ATXN8OS Ataxin 8 opposite strand | 13q21.33 | | Spinocerebellar ataxia 8 - SCA8 (13.8)
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| 65 | B3GALNT2 Beta-1,3-N-acetylgalacto-saminyltransferase 2 | 1q42.3 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.40)
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| 66 | B4GALNT1 Beta-1,4-N-acetyl-galactosaminyl transferase 1 | 12q13.3 | | Spastic paraplegia 26 - SPG26 (14.98, 15.35)
| | Charcot-Marie-Tooth disease, axonal - (14.98, 15.35)
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| 67 | B4GAT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1 | 11q13.2 | | Walker-Warburg syndrome (WWS) - MDDGA13 (2.26)
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| 68 | BAG3 BCL2-associated athanogene 3 | 10q25.2-q26.2 | | myofibrillar myopathy with bag3 defect - (5.7, 10.71, 14.75)
| | Dilated cardiomyopathy related to BAG3 - CMD1HH (5.7, 10.71, 14.75)
| | Charcot-Marie-Tooth disease, axonal, related to BAG3 - (5.7, 10.71, 14.75)
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| 69 | BAG5 Bag cochaperone | 14q32.33 | | Dilated cardiomyopathy, 2F - CMD2F (10.85)
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| 70 | BEAN1 Brain expressed, associated with Nedd42 | 16q21 | | spinocerebellar ataxia-31 - SCA31 (13.28)
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| 71 | BICD2 Bicaudal D homolog 2 (Drosophila) | 9q22.31 | | Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A (12.35, 12.36, 16.23)
| | Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B (12.35, 12.36, 16.23)
| | Arthrogryposis and BICD2-related neuromuscular disease - (12.35, 12.36, 16.23)
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| 72 | BIN1 Amphiphysin | 2q14 | | Centronuclear myopathy 2 - CNM2 (3.24)
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| 73 | BSCL2 Seipin | 11q12-q13.5 | | Spastic paraplegia 17 - SPG17 (12.25, 15.9)
| | Neuronopathy, distal hereditary motor, type VC - HMN5C (12.25, 15.9)
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| 74 | BVES Blood vessel epicardial substance | 6q21 | | Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.57)
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| 75 | C12orf65 Chomosome 12 open reading frame 65(M) | 12q24.31 | | Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
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| 76 | C19orf12 Chromosome 19 open reading frame 12(M) | 19q12 | | Spastic paraplegia 43, autosomal recessive - SPG43 (15.42)
| | Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.42)
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| 77 | C9orf72 Chromosome 9 open reading frame 72 | 9p21.2 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.109, 12.75)
| | Spinobulbar muscular atrophy (SBMA)
- (12.109, 12.75)
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| 78 | CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19p13.13 | | Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.46, 13.51)
| | Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.46, 13.51)
| | Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.46, 13.51)
| | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.46, 13.51)
| | Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.46, 13.51)
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| 79 | CACNA1C Calcium channel, voltage-dependent, L type, alpha 1C subunit | 12p13.33 | | brugada syndrome 3 - (10.139, 10.175)
| | Timothy syndrome - LQT8 (10.139, 10.175)
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| 80 | CACNA1G calcium voltage-gated channel subunit alpha1 G | 17q21.33 | | Spinocerebellar ataxia 42 - SCA42 (13.37, 13.38)
| | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.37, 13.38)
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| 81 | CACNA1H Calcium channel, voltage-dependent, T type, aplpha-1H subunit | 16p13.3 | | Congenital amyotrophy - (3.58)
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| 82 | CACNA1S Calcium channel, voltage-dependent, L type, alpha 1S subunit | 1q32 | | Hypokalemic periodic paralysis - CACNL1A3 (1.30, 3.50, 7.8, 8.5)
| | Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.30, 3.50, 7.8, 8.5)
| | Malignant hyperthermia susceptibility 5 - MHS5 (1.30, 3.50, 7.8, 8.5)
| | Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (1.30, 3.50, 7.8, 8.5)
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| 83 | CACNB2 Calcium channel, voltage-dependent, beta 2 subunit | 10p12.33-p12.31 | | brugada syndrome 4 - (10.176)
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| 84 | CACNB4 Calcium channel, voltage-dependent, beta 4 subunit | 2q22-q23 | | episodic ataxia type 5, included - EA5 (13.48)
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| 85 | CADM3 Cell adhesion molecule 3 | 1q23.2 | | Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.70)
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| 86 | CALM1 Calmodulin 1 | 14q32.11 | | Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.127, 10.145)
| | Long QT syndrome 14 - LQT14 (10.127, 10.145)
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| 87 | CALM2 Calmodulin 2 | 2p21 | | Long QT syndrome 15 - LQT15 (10.146)
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| 88 | CALM3 Calmodulin 3 | 19q13.32 | | Long QT syndrome 16 - LQT16 (10.129, 10.147)
| | Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.129, 10.147)
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| 89 | CALR3 Calreticulin 3 | 19p13.11 | | Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
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| 90 | CAPN1 Calpain 1 | 11q13.1 | | Spastic paraplegia 76, autosomal recessive - SPG76 (12.17, 15.64)
| | Spinal Muscular Atrophy type IV related to CAPN1 - (12.17, 15.64)
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| 91 | CAPN3 Calpain 3 | 15q15.1-q21.1 | | LGMDD4 - (1.20, 1.31)
| | Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.20, 1.31)
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| 92 | CASQ1 Calsequestrin 1 (fast-twitch, skeletal muscle)(M) | 1q21 | | Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.40)
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| 93 | CASQ2 Calsequestrin 2 (cardiac muscle) | 1p13.1 | | ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.125)
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| 94 | CAV3 Caveolin 3 | 3p25.3 | | Myopathy distal, Tateyama type - MPDT (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | cardiomyopathy, familial hypertrophic - CMH (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Creatine phosphokinase, elevated serum - CPK (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Rippling muscle disease - RMD2 (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Long QT syndrome 9 - LQT9 (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
| | Hyperckemia, idiopathic - (1.26, 4.12, 5.29, 6.6, 6.7, 10.140, 10.16)
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| 95 | CAVIN1 Caveolae-associated protein 1(M) | 17q21-q2 | | lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
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| 96 | CCDC78 Coiled-coil domain-containing protein 78 | 16p13.3 | | Centronuclear myopathy 4 - CNM4 (3.25)
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| 97 | CCDC88C Coiled-coil domain containing 88C | 14q32.11 | | Spinocerebellar ataxia 40 - SCA40 (13.35)
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| 98 | CCT5 Chaperonin containing TCP1 subunit 5 | 5p15.2 | | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.130)
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| 99 | CDH2 Cadherin 2 | 18q12.1 | | Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.123)
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| 100 | CFAP276 Cilia- and flagella-associated protein 276 | 1p21.2-p13.3 | | Charcot-Marie Tooth disease, intermediate - (14.21)
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| 101 | CFL2 Cofilin 2 (muscle) | 14q12 | | Nemaline myopathy - NEM7 (3.7)
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| 102 | CHAT Choline acetyltransferase isoform | 10q11.2 | | Myasthenia gravis, autosomal recessive - MGI (11.13)
| | Myasthenia gravis, familial infantile - FIMG (11.13)
| | Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.13)
| | Myasthenia gravis, familial infantile, 2 - FIMG2 (11.13)
| | Myasthenic syndrome, congenital, 6, presynaptic - CMS6 (11.13)
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| 103 | CHCHD10 Coiled-coil-helix-coiled-coil-helix domain containing 10(M) | 22q11.2-q13.2 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.38, 12.76, 16.62)
| | late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.38, 12.76, 16.62)
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| 104 | CHD8 Chromodomain Helicase DNA-Binding Protein 8 | 14q11.2 | | Congenital myasthenic syndrome - (11.42)
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| 105 | CHKB Choline kinase beta | 22q13 | | Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.46)
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| 106 | CHMP2B Charged multivesicular body protein 2B | 3p11.2 | | Amyotrophic lateral sclerosis 17 - ALS17 (12.63)
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| 107 | CHP1 Calcineurin-like EF-hand protein 1 | 15q15.1 | | Spastic ataxia 9, autosomal recessive - SPAX9 (15.83)
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| 108 | CHRNA1 Cholinergic receptor, nicotinic, alpha polypeptide 1 | 2q24-q32 | | Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5, 11.43)
| | Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5, 11.43)
| | Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (11.1, 11.5, 11.43)
| | Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B (11.1, 11.5, 11.43)
| | Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A (11.1, 11.5, 11.43)
|
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| 109 | CHRNB1 Cholinergic receptor, nicotinic, beta 1 muscle | 17p13.1 | | Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9)
| | Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9)
| | Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9)
| | Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A (11.2, 11.6, 11.9)
|
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| 110 | CHRND Cholinergic receptor, nicotinic, delta | 2q33-q34 | | Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.7, 11.10)
| | Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.7, 11.10)
| | Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B (11.3, 11.7, 11.10)
|
|
| 111 | CHRNE Cholinergic receptor, nicotinic, epsilon | 17p13-p12 | | Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11)
| | Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11)
| | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C (11.4, 11.8, 11.11)
|
|
| 112 | CHRNG Cholinergic receptor, nicotinic, gamma polypeptide | 2q33-q34 | | Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
|
|
| 113 | CLCN1 Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) | 7q35 | | Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2)
| | Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.3, 6.4, 7.1, 7.2)
| | Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2)
|
|
| 114 | CLN3 Ceroid-lipofuscinosis, neuronal 3 (=battenin) | 16p11.2 | | Autophagic vacuolar myopathy - CLN3 (5.19)
|
|
| 115 | CLTCL1 Clathrin, heavy polypeptide-like 1 | 22q11.21 | | Absence of pain, Congenital - (14.117)
|
|
| 116 | CNBP Cellular nucleic acid-binding protein | 3q21.3 | | Proximal myotonic myopathy - PROMM (6.2)
| | Myotonic dystrophy, type 2 - DM2 (6.2)
|
|
| 117 | CNTN1 Contactin-1 | 12q11-q12 | | Congenital myopathy Compton-North - (3.47)
|
|
| 118 | CNTNAP1 Contactin-Associated Protein 1 | 17q21.2 | | Lethal congenital contracture syndrome 7 - LCCS7 (12.87, 14.36)
| | Charcot-Marie Tooth disease related to CNTNAP1 - (12.87, 14.36)
|
|
| 119 | COA7 Cytochrome C oxidase assembly factor 7 | 1p32.3 | | Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.90)
|
|
| 120 | COL12A1 Collagen type XII alpha 1 chain | 6q13-q14 | | Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)
| | Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11)
| | COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
|
|
| 121 | COL13A1 Collagen type XIII alpha 1 chain | 10q22.1 | | Congenital myasthenic syndrome type 19 - CMS19 (11.27)
|
|
| 122 | COL25A1 Collagen, type XXV, alpha-1 | 4q25 | | Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
|
|
| 123 | COL6A1 Alpha 1 type VI collagen | 21q22.3 | | Bethlem myopathy - (1.21, 1.52, 2.2, 2.6)
| | Ullrich congenital muscular dystrophy - UCMD1 (1.21, 1.52, 2.2, 2.6)
| | LGMDR22 - (1.21, 1.52, 2.2, 2.6)
| | LGMDD5 - (1.21, 1.52, 2.2, 2.6)
|
|
| 124 | COL6A2 Alpha 2 type VI collagen | 21q22.3 | | myosclerosis, autosomal recessive - (1.22, 1.53, 2.3, 2.4, 2.5, 2.7, 2.12)
| | LGMDR22 - (1.22, 1.53, 2.3, 2.4, 2.5, 2.7, 2.12)
| | LGMDD5 - (1.22, 1.53, 2.3, 2.4, 2.5, 2.7, 2.12)
| | Bethlem myopathy - (1.22, 1.53, 2.3, 2.4, 2.5, 2.7, 2.12)
| | Ullrich scleroatonic muscular dystrophy - UCMD1 (1.22, 1.53, 2.3, 2.4, 2.5, 2.7, 2.12)
|
|
| 125 | COL6A3 Alpha 3 type VI collagen | 2q37 | | LGMDR22 - (1.23, 1.54, 2.4, 2.8)
| | LGMDD5 - (1.23, 1.54, 2.4, 2.8)
| | Bethlem myopathy - (1.23, 1.54, 2.4, 2.8)
| | Ullrich congenital muscular dystrophy - UCMD1 (1.23, 1.54, 2.4, 2.8)
|
|
| 126 | COLQ Acetylcholinesterase collagen-like tail subunit | 3p25 | | Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
| | Myasthenic syndrome, congenital, 5 - CMS5 (11.12)
|
|
| 127 | COQ2 Coenzyme Q2(M) | 4q21.23 | | Coenzyme Q10 deficiency 1 - COQ10D1 (16.73)
|
|
| 128 | COQ4 Coenzyme Q4(M) | 9q34.11 | | Coenzyme Q10 deficiency 7 - COQ10D7 (16.77)
|
|
| 129 | COQ5 Coenzyme Q5 Methyltransferase(M) | 12q24.31 | | Coenzyme Q10 deficiency - COQ10D9 (13.104)
|
|
| 130 | COQ6 Coenzyme Q6(M) | 14q24.3 | | Coenzyme Q10 deficiency 6 - COQ10D6 (16.76)
|
|
| 131 | COQ7 Coenzyme Q7(M) | 16p12.3 | | Coenzyme Q10 deficiency 8 - COQ10D8 (16.78)
|
|
| 132 | COQ9 Coenzyme Q9(M) | 16q21 | | Coenzyme Q10 deficiency 5 - COQ10D5 (16.75)
|
|
| 133 | COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M) | 10q24 | | Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.38)
|
|
| 134 | COX16 Cytochrome c Oxidase Assembly Factor 16 | 14q24.2 | | Mitochondrial complex IV deficiency - MC4DN22 (16.87)
|
|
| 135 | COX20 Cytochrome c Oxidase Assembly Factor COX20 | 1q44 | | Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.106)
|
|
| 136 | COX6A1 Cytochrome c oxidase subunit VIa polypeptide 1(M) | 12q24.31 | | CMT recessive intermediate D - CMTRID (14.87)
|
|
| 137 | COX6A2 Cytochrome c-oxidase, subunit 6A2(M) | 16p11.2 | | Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.69)
|
|
| 138 | CPT1C Carnitine Palmitoyltransferase 1C(M) | 19q13.33 | | Spastic paraplegia 73, autosomal dominant - SPG73 (15.20)
|
|
| 139 | CPT2 Carnitine palmitoyltransferase II(M) | 1p32 | | CPT deficiency, hepatic, type II - CPT2 (9.19)
| | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.19)
| | Myopathy due to CPT II deficiency - CPT2 (9.19)
|
|
| 140 | CRPPA Isoprenoid synthase domain containing protein | 7p21.2-p21.1 | | LGMDR20 - LGMDR20 (1.50, 2.24)
| | Walker-Warburg syndrome (WWS) - MDDGA7 (1.50, 2.24)
|
|
| 141 | CRYAB Crystallin, alpha B | 11q22.3-q23.1 | | Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.72)
| | Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.72)
| | Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.72)
|
|
| 142 | CSRP3 Cysteine and glycine-rich protein 3 (cardiac LIM protein) | 11p15.1 | | Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.50)
| | Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.50)
|
|
| 143 | CTDP1 CTD phosphatase subunit 1 | 18q23 | | congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.128)
|
|
| 144 | CTNNA3 Catenin alpha 3 | 10q21.3 | | Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.122)
|
|
| 145 | CWF19L1 CWF19-like Protein 1 | 10q24.31 | | Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.73)
|
|
| 146 | CYP2U1 Cytochrome P450, family 2, subfamily U, polypeptide 1 | 4q25 | | Spastic paraplegia 56, autosomal recessive - SPG56 (15.55)
|
|
| 147 | CYP7B1 Cytochrome P450, family 7, subfamily B, polypeptide 1 | 8p12-q13 | | Spastic paraplegia 5A - SPG5A (15.23)
|
|
| 148 | DAG1 Dystroglycan1 | 3p21 | | Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.46, 2.38)
| | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.46, 2.38)
|
|
| 149 | DCAF8 DDB1 and CUL4 associated factor 8 | 1q23.2 | | Giant axonal neuropathy 2 - GAN2 (14.127)
|
|
| 150 | DCTN1 Dynactin 1 | 2p13 | | Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.27, 12.74)
| | Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.27, 12.74)
|
|
| 151 | DDHD1 DDHD domain containing 1 | 14q21 | | Spastic paraplegia 20 - SPG28 (15.37)
|
|
| 152 | DDHD2 DDHD domain containing protein 2 | 8p11.23 | | Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)
|
|
| 153 | DES Desmin | 2q35 | | Desmin-related myopathy - DRM (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Dilated cardiomyopathy, 1I - CMD1I (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Myofibrillar myopathy 1 - MFM1 (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Myopathy, cardiomyopathy and congenital myasthenic syndrome - (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
| | Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.27, 1.60, 5.1, 5.15, 10.131, 10.46, 11.44)
|
|
| 154 | DGAT2 Diacylglycerol O-acyltransferase 2 | 1q13.3 | | Early onset axonal neuropathy with sensory ataxia - (14.74)
|
|
| 155 | DGUOK Deoxyguanosine kinase(M) | 2p13.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.42, 16.46)
| | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.42, 16.46)
|
|
| 156 | DHTKD1 Dehydrogenase E1 and transketolase domain containing 1(M) | 10p14 | | Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.62)
|
|
| 157 | DMD Dystrophin | Xp21.2 | | Duchenne muscular dystrophy - DMD (1.1, 10.88)
| | Becker muscular distrophy - BMD (1.1, 10.88)
| | Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.88)
| | Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.88)
|
|
| 158 | DMPK Myotonic dystrophy protein kinase | 19q13.3 | | Myotonic dystrophy 1 - DM1 (6.1)
| | Dystrophia myotonica - DM (6.1)
| | Steinert disease - DM1 (6.1)
|
|
| 159 | DNA2 DNA replication helicase 2(M) | 10q21.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)
|
|
| 160 | DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 | 2q32-q34 | | Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.82)
| | Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.82)
| | Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.82)
|
|
| 161 | DNAJB4 DNAJ/HSP40 homolog, subfamily B, member 4 | 1p31.1 | | Myopathy with early respiratory failure - (5.16)
|
|
| 162 | DNAJB6 HSP-40 homologue, subfamily B, number 6 | 7q36 | | LGMDD1 - (1.17, 4.25, 4.26)
|
|
| 163 | DNM2 Dynamin 2 | 19p13.2 | | Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.23, 4.21, 12.85, 14.15)
| | Myopathy centronuclear, 1 - CNM1 (2.15, 3.23, 4.21, 12.85, 14.15)
| | Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.23, 4.21, 12.85, 14.15)
|
|
| 164 | DNMT1 DNA (cytosine-5)-methyltransferase 1 | 19p13.2 | | Neuropathy, hereditary sensory, type 1E - HSN1E (14.113)
| | Hereditary sensory neuropathy with dementia and hearing loss - (14.113)
|
|
| 165 | DOK7 Docking protein 7 | 4p16.2 | | Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 16.27)
| | Fetal akinesia deformation sequence 3 - FADS3 (11.18, 16.27)
| | Myasthenic syndrome, congenital, 10 - CMS10 (11.18, 16.27)
|
|
| 166 | DOLK Dolichol kinase | 9q34.13 | | Dilated Cardiomyopathy related to DOLK - CDG1M (10.91)
|
|
| 167 | DPAGT1 Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | 11q23.3 | | Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.21)
| | Myasthenic syndrome, congenital, 13, with tubular aggregates - CMS13 (11.21)
|
|
| 168 | DPM1 Dolichyl-phosphate mannosyltransferase 1, catalytic subunit | 20q13.13 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.35)
|
|
| 169 | DPM2 Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit | 9q34.13 | | Muscle dystrophy with congenital disorder of glycosylation - (2.37)
| | Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.37)
|
|
| 170 | DPM3 Dolichyl-phosphate mannosyltransferase polypeptide 3 | 1q22 | | Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.63)
|
|
| 171 | DSC2 Desmocollin 2 | 18q12.1 | | Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.120)
|
|
| 172 | DSG2 Desmoglein 2 | 18q12.1 | | Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.119, 10.65)
| | Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.119, 10.65)
|
|
| 173 | DSP Desmoplakin | 6p24.3 | | Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.117)
|
|
| 174 | DST Dystonin | 6p12.1 | | Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.109)
|
|
| 175 | DTNA Dystrobrevin, alpha | 18q12 | | Left ventricular noncompaction, familial isolated - LVNC (10.100)
| | Left ventricular noncompaction with congenital heart defects - (10.100)
|
|
| 176 | DUX4 Double homeobox 4 | 4q35 | | Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
|
|
| 177 | DYNC1H1 Dynein, cytoplasmic 1, heavy chain 1 | 14q32.31 | | Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.34, 14.60)
| | Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.34, 14.60)
|
|
| 178 | DYSF Dysferlin | 2p12-14 | | Miyoshi myopathy - MM (1.32, 4.1)
| | Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.32, 4.1)
|
|
| 179 | ECEL1 Endothelin-converting enzyme like 1 | 2q37.1 | | Arthrogryposis, distal, type 5D - DA5D (16.18)
|
|
| 180 | EEF2 Eukaryotic translation elongation factor 2 | 19p13.3 | | Spinocerebellar ataxia 26 - SCA26 (13.23)
|
|
| 181 | EGR2 Early growth response 2 protein | 10q21.1 | | Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.28, 14.45)
| | Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.28, 14.45)
| | Dejerine-Sottas syndrome - DSS (14.4, 14.28, 14.45)
| | Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.28, 14.45)
|
|
| 182 | ELOVL4 ELOVL fatty acid elongase 4 | 6q14.1 | | Spinocerebellar ataxia 34 - SCA34 (13.30)
|
|
| 183 | ELOVL5 ELOVL fatty acid elongase 5 | 6p12.1 | | Spinocerebellar ataxia 38 - SCA38 (13.34)
|
|
| 184 | ELP1 Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | 9q31.3 | | Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.106, 16.3)
| | Familial dysautonomia (Riley-Day syndrome) - (14.106, 16.3)
|
|
| 185 | EMD Emerin | Xq28 | | Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
|
|
| 186 | ENDOG Endonuclease G, mitochondrial | 9q34.11 | | Mitochondrial myopathy and multiple mtDNA deletions - (16.89)
|
|
| 187 | ENO3 Enolase 3, beta muscle specific | 17pter-p11 | | Glycogen storage disease XIII - GSD13 (9.17)
| | Enolase deficiency - ENO3 (9.17)
|
|
| 188 | ENTPD1 Ectonucleoside triphosphate diphosphohydrolase 1 | 10q24.1 | | Spastic paraplegia 64, autosomal recessive - SPG64 (15.60)
|
|
| 189 | ERBB3 V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 12q13 | | Lethal congenital contracture syndrome 2 - LCCS2 (12.82)
|
|
| 190 | ERBB4 V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4 | 2q34 | | Amyotrophic lateral sclerosis 19 - ALS19 (12.65)
|
|
| 191 | ERLIN1 Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1) | 10q24.31 | | Spastic paraplegia 62 autosomal recessive - SPG62 (15.58)
|
|
| 192 | ERLIN2 ER lipid raft associated 2 | 8p12-p11.21 | | Spastic paraplegia 18 - SPG18 (15.29)
|
|
| 193 | ETFA Electron-transfer-flavoprotein, alpha polypeptide(M) | 15q23-q25 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.22)
|
|
| 194 | ETFB Electron-transfer-flavoprotein, beta polypeptide(M) | 19q13.3-q13.4 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.23)
|
|
| 195 | ETFDH Electron-transferring-flavoprotein dehydrogenase(M) | 4q32-q35 | | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.24)
| | Multiple acyl-coa dehydrogenase deficiency - MADD (9.24)
|
|
| 196 | EXOSC3 Exosome component 3 | 9p13.2 | | Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.93)
|
|
| 197 | EXOSC8 Exosome component 8 | 13q13.1 | | Spinal muscular atrophy and cerebellar hypoplasia - (12.14)
|
|
| 198 | EXOSC9 Exosome component 9 | 4q27 | | Pontocerebellar hypoplasia, type 1D - PCH1D (12.15)
|
|
| 199 | EYA4 Eyes absent 4 | 6q23-24 | | Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.47)
| | Cardiomyopathy, dilated, 1J - CMD1J (10.47)
|
|
| 200 | FA2H Fatty acid 2-hydroxylase | 16q21-q23.1 | | Spastic paraplegia 35, autosomal recessive - SPG35 (15.40)
| | Dysmyelinating leukodystrophy - FAHN (15.40)
|
|
| 201 | FAM111B Family with sequence similarity 111 member B | 11q12.1 | | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.63)
|
|
| 202 | FARS2 Phenylalanine-tRNA synthetase 2(M) | 6p25.1 | | Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
|
|
| 203 | FASTKD2 Fast Kinase Domains 2 | 2q33.3 | | Combined oxidative phosphorylation deficiency 44 - COXPD44 (16.66)
|
|
| 204 | FAT2 Fat tumor suppressor, Drosophila, Homologh of, 2 | 5q33.1 | | Spinocerebellar ataxia 45 - SCA45 (13.41)
|
|
| 205 | FBLN5 Fibulin 5 (extra-cellular matrix) | 14q32.12 | | Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.12)
|
|
| 206 | FBXL4 F-box and leucine-rich repeat protein 4 | 6q16.1-q16.2 | | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.56)
|
|
| 207 | FBXO38 F-box protein 38 | 5q32 | | Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.22)
|
|
| 208 | FDX2 Ferredoxin(M) | 19p13.2 | | Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - MEOAL (16.79)
|
|
| 209 | FGD4 Actin-filament binding protein Frabin | 12p11.21 | | Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.32)
|
|
| 210 | FGF14 Fibroblast growth factor 14 | 13q34 | | Spinocerebellar ataxia 27 - SCA27 (13.24)
|
|
| 211 | FHL1 Four and a half LIM domain 1 | Xq26.3 | | Scapuloperoneal myopathy, X-linked dominant - SPM (1.7, 5.30, 5.31, 5.32)
| | Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.7, 5.30, 5.31, 5.32)
| | X-linked myopathy with postural muscle atrophy - XMPMA (1.7, 5.30, 5.31, 5.32)
| | Myopathy, reducing body, X-linked, childhood-onset - (1.7, 5.30, 5.31, 5.32)
| | Rigid spine syndrome related to FHL1 - RSS (1.7, 5.30, 5.31, 5.32)
| | Myopathy, reducing body, X-linked, severe early-onset - (1.7, 5.30, 5.31, 5.32)
| | Rigid spine syndrome - RSMD1 (1.7, 5.30, 5.31, 5.32)
|
|
| 212 | FHOD3 Formin homology-2 domain-containing protein 3 | 18q12.2 | | Hypertrophic cardiomyopathy, 28 - CMH28 (10.30)
|
|
| 213 | FIG4 Sac domain-containing inositol phosphatase 3 | 6q21 | | charcot-marie-tooth disease, type 4j - CMT4J (12.57, 14.33)
| | Amyotrophic lateral sclerosis 11 - ALS11 (12.57, 14.33)
|
|
| 214 | FKRP Fukutin-related protein | 19q13.32 | | Walker-Warburg syndrome - WWS (1.39, 2.22, 2.28, 2.33)
| | Muscle-eye-brain disease - MEB (1.39, 2.22, 2.28, 2.33)
| | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.39, 2.22, 2.28, 2.33)
| | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.39, 2.22, 2.28, 2.33)
| | Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.39, 2.22, 2.28, 2.33)
|
|
| 215 | FKTN Fukutin | 9q31-q33 | | Walker-Warburg syndrome - WWS (1.43, 2.18, 2.19, 10.61)
| | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.43, 2.18, 2.19, 10.61)
| | fukuyama congenital muscular dystrophy - FCMD (1.43, 2.18, 2.19, 10.61)
| | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.43, 2.18, 2.19, 10.61)
| | Cardiomyopathy, dilated, 1X - CMD1X (1.43, 2.18, 2.19, 10.61)
| | Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.43, 2.18, 2.19, 10.61)
|
|
| 216 | FLAD1 flavin adenine dinucleotide synthetase, homolog(M) | 1q21.3 | | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.31)
|
|
| 217 | FLNA Filamin A, alpha (actin binding protein 280) | Xq28 | | Myxomatous valvular dystrophy, X-ninked - XMVD (10.110)
| | cardiac valvular dysplasia, x-linked - CVD1 (10.110)
|
|
| 218 | FLNC Filamin C, gamma (actin-binding protein - 280) | 7q32 | | Myopathy, myofibrillar, filamin C-related - MFM5 (4.8, 5.6, 10.28, 10.96)
| | Myopathy, distal, 4 - MPD4 (4.8, 5.6, 10.28, 10.96)
| | Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.8, 5.6, 10.28, 10.96)
|
|
| 219 | FLVCR1 Feline leukemia subgroup C receptor 1 | 1q32.3 | | Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.116)
|
|
| 220 | FUS Fusion (involved in t(12;16) in malignant liposarcoma) | 16q12 | | Amyotrophic lateral sclerosis - ALS6 (12.52)
|
|
| 221 | FXN Frataxin(M) | 9q13-q21.1 | | Friedreich ataxia - FRDA (13.54)
| | Friedreich ataxia with retained reflexes - FARR (13.54)
|
|
| 222 | FXR1 FMR1 autosomal homolog | 3q26.33 | | Myopathy, congenital proximal with minicore lesions - MYOPMIL (3.59, 3.60)
| | Myopathy, congenital with respitory insufficiency and bone fractures - MYORIBF (3.59, 3.60)
|
|
| 223 | GAA Acid alpha-glucosidase preproprotein | 17q25.2-q25.3 | | Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.61, 9.1, 10.98)
| | Glycogen storage disease II - GSDII (1.61, 9.1, 10.98)
|
|
| 224 | GAN1 Gigaxonin | 16q23.2 | | Giant axonal neuropathy-1 - GAN1 (14.126)
|
|
| 225 | GARS1 Glycyl-tRNA synthetase | 7p15 | | Neuropathy, distal hereditary motor type V - HMN V (12.23, 14.51)
| | Spinal muscular atrophy, distal, type V - DSMAV (12.23, 14.51)
| | Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.23, 14.51)
|
|
| 226 | GATAD1 GATA zinc finger domain containing 1 | 7q21-q22 | | Cardiomyopathy, dilated, 2B - CMD2B (10.81)
| | Dilated cardiomyopathy realted to GATAD1 - (10.81)
|
|
| 227 | GBA2 Glucosidase, beta (bile acid) 2 | 9p13.3 | | Spastic paraplegia 46, autosomal recessive - SPG46 (15.45)
|
|
| 228 | GBE1 Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) | 3p12 | | Glycogen branching enzyme deficiency - GSD IV (9.3)
|
|
| 229 | GBF1 Golgi-specific brefeldin-A resistance factor 1 | 10q24.32 | | Distal hereditary motor neuropathies - (12.41, 14.14)
| | Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.41, 14.14)
|
|
| 230 | GDAP1 Ganglioside-induced differentiation-associated protein 1 | 8q13-q21 | | Charcot-Marie-Tooth disease, type 4A - CMT4A (14.22, 14.57, 14.84)
| | Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.22, 14.57, 14.84)
| | Charcot-Marie-Tooth disease, type 2K - CMT2K (14.22, 14.57, 14.84)
| | Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.22, 14.57, 14.84)
|
|
| 231 | GDAP2 Ganglioside induced differentiation associated protein 2 | 1p12 | | Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.83)
|
|
| 232 | GFER Growth Factor ERV1-Like | 16p13.3 | | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.85)
|
|
| 233 | GFPT1 Glutamine-fructose-6-phosphate transaminase 1 | 2p12-p15 | | Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)
| | Myasthenia, congenital, 12, with tubular aggregates - CMS12 (11.20)
|
|
| 234 | GGPS1 Geranylgeranyl Diphosphate Synthase 1 | 1q42.3 | | Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.16)
|
|
| 235 | GIPC1 GIPC PDZ Domain-containing family, member 1 | 19p13.12 | | Oculopharyngodistal myopathy 2 - OPDM2 (5.22)
|
|
| 236 | GJA5 Connexin 40 | 1q21.1 | | atrial fibrillation, familial, 1 - ATFB1 (10.164, 10.172)
|
|
| 237 | GJB1 Gap junction protein, beta 1, 32kDa (connexin 32) | Xq13.1 | | Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.37, 14.45)
|
|
| 238 | GJB3 Gap junction protein, beta 3, 31kDa (=connexin 31) | 1p34.3 | | Peripheral neuropathy and deafness, autosomal dominant - (14.124)
|
|
| 239 | GJC2 gap junction protein, gamma 2, 47kDa | 1q42.13 | | Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)
|
|
| 240 | GLDN Gliomedin | 15q21.2 | | Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.91)
|
|
| 241 | GLE1 GLE1 RNA export mediator homolog (yeast) | 9q34.11 | | Lethal congenital contracture syndrome 1 - LCCS1 (12.81)
|
|
| 242 | GMPPB GDP-mannose pyrophosphorylase B | 3p21.31 | | Muscle-eye-brain disease - MDDGA14 (1.49, 2.30, 2.42, 11.37)
| | Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.49, 2.30, 2.42, 11.37)
| | Congenital Myasthenic syndrome related to GMPPB - (1.49, 2.30, 2.42, 11.37)
|
|
| 243 | GNB4 Guanine nucleotidebinding protein, beta-4 | 3q28-q29 | | Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.19)
|
|
| 244 | GNE UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase | 9p13.3 | | Nonaka myopathy - NM (4.5)
| | Inclusion body myopathy, autosomal recessive - IBM2 (4.5)
|
|
| 245 | GOLGA2 Golgin A2 | 9q34.113 | | GOLGA2-related congenital muscle dystrophy with brain involvement - (2.49)
|
|
| 246 | GOSR2 Golgi SNAP receptor complex member 2 | 17q21.32 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (1.14, 2.44)
| | Muscular dystrophy - (1.14, 2.44)
| | Muscular dystrophy related to GOSR2 - GOSR2 (1.14, 2.44)
|
|
| 247 | GPD1L Glycerol-3-phosphate dehydrogenase 1-like | 3p22.3 | | brugada syndrome 2 - (10.174)
|
|
| 248 | GRID2 Glutamate receptor, ionotropic, delta 2 | 4q22.1 | | Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.74)
|
|
| 249 | GRM1 Glutamate receptor metabotropic, 1 | 6q24.3 | | Spinocerebellar ataxia 44 - SCA44 (13.40, 13.69)
| | Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.69)
|
|
| 250 | GYG1 Glycogenin 1 | 3q24 | | Glycogen storage disease XV - GSD15 (9.8, 9.12)
| | Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
|
|
| 251 | GYS1 Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle) | 19q13.3 | | glycogen storage disease type 0 - GSD0b (9.9)
|
|
| 252 | HACD1 Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase | 10p12.33 | | Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.49, 10.116)
| | Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.49, 10.116)
| | Congenital myopathy related to PTPLA - (3.49, 10.116)
|
|
| 253 | HACE1 Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1 | 6q16.3 | | Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.71)
|
|
| 254 | HARS Histidyl-tRNA synthetase | 5q31.3 | | Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.65)
|
|
| 255 | HCN4 Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | 3p22.2 | | Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.180, 10.184)
| | familial sinusal bradycardia - FSBD (10.180, 10.184)
| | Brugada syndrome 8 - BRGDA8 (10.180, 10.184)
|
|
| 256 | HEXB Hexosaminidase B | 5q13.3 | | Late onset spinal muscular atrophy related to HEXB - (12.98)
|
|
| 257 | HINT1 Histidine triad nucleotide binding protein 1 | 5q23.3 | | Axonal neuropathy with myotonia - NMAN (12.16, 14.83)
| | Distal hereditary motor neuronopathy - (12.16, 14.83)
|
|
| 258 | HK1 Hexokinase 1(M) | 10q22.1 | | Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.31)
|
|
| 259 | HNRNPA1 Heterogeneous nuclear ribonucleoprotein A1 | 12q13.13 | | Isolated inclusion body myopathy - IBMPFD3 (3.40, 12.66)
| | Amyotrophic lateral sclerosis 20 - ALS20 (3.40, 12.66)
|
|
| 260 | HNRNPA2B1 Hetergeneous nuclear ribonucleoprotein A2/B1 | 7q15.2 | | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.25, 5.35)
| | Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.25, 5.35)
|
|
| 261 | HNRNPDL Heterogeneous nuclear ribonucleoprotein D-like | 4q21 | | Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.19)
|
|
| 262 | HOXD10 Homeobox D10 | 2q31.1 | | Charcot-Marie-Tooth disease, congenital, vertical talus - (14.10)
|
|
| 263 | HRAS V-Ha-RAS Harvey Rat Sarcoma Viral | 11p15.5 | | Myopathy, congenital, With excess of muscle spindles - CMEMS (3.52)
|
|
| 264 | HSPB1 Heat shock 27kDa protein 1 | 7q11.23 | | Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.20, 14.53)
| | Neuropathy, distal hereditary motor, type IIB - HMN2B (12.20, 14.53)
|
|
| 265 | HSPB3 Heat shock 27kDa protein 3 | 5q11.2 | | neuronopathy, distal hereditary motor, type IIC - HMN2C (12.21)
|
|
| 266 | HSPB8 Heat shock 27kDa protein 8 | 12q24.23 | | Neuropathy, distal hereditary motor, type II - HMN2A (4.28, 4.29, 12.19, 14.58)
| | Rimmed vacuole myopathy - (4.28, 4.29, 12.19, 14.58)
| | Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.28, 4.29, 12.19, 14.58)
|
|
| 267 | HSPD1 Heat shock 60kDa protein 1 (chaperonin)(M) | 2q33.1 | | Spastic paraplegia 13 - SPG13 (15.8)
|
|
| 268 | HSPG2 Perlecan | 1p36.1-p34 | | Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
| | Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
|
|
| 269 | IBA57 IBA57 homolog, iron-sulfur cluster assembly (M) | 1q42.13 | | Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
|
|
| 270 | IFRD1 Interferon-related developmental regulator 1 | 7q31.1 | | Spinocerebellar ataxia 18 - SCA18 (13.16)
|
|
| 271 | IGHMBP2 Immunoglobulin mu binding protein 2 | 11q13.2-q13.4 | | Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.89)
| | Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.89)
|
|
| 272 | ILK Integrin-linked kinase | 11p15.5-p15.4 | | Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.78)
|
|
| 273 | INF2 Inverted formin 2 | 14q32-33 | | Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.18)
|
|
| 274 | INPP5K Inositol Polyphosphate-5-Phosphatase K | 17p13.3 | | Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.51)
|
|
| 275 | ISCU Iron-sulfur cluster scaffold homolog (E. coli)(M) | 12q24.1 | | myopathy with exercise intolerance, swedish type - (5.36)
| | myopathy with deficiency of succinate dehydrogenase and aconitase - (5.36)
| | myopathy with lactic acidosis, hereditary - HML (5.36)
|
|
| 276 | ISPD Isoprenoid synthase domain containing | 7p21.2 | | Walker-Warburg syndrome - WWS
| | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7
|
|
| 277 | ITGA7 Integrin alpha 7 precursor | 12q13 | | Congenital muscular dystrophy with integrin defect - (2.14)
| | Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
|
|
| 278 | ITPR1 Inositol 1,4,5-triphosphate receptor type 1 | 3p26.1 | | Spinocerebellar ataxia 15 - SCA15 (13.14)
|
|
| 279 | ITPR3 Inositol 1,4,5-triphosphate receptor, type 3 | 6q21.31 | | Charcot-Marie-Tooth neuropathy - (14.13)
|
|
| 280 | JAG1 Jagged 1 | 20p12.2 | | Charcot-Marie-Tooth disease, axonal, related to JAG1 - CMT2 (14.76)
|
|
| 281 | JAG2 Jagged 2 | 14q32.33 | | Muscular dystrophy, LGMDR27 - LGMDR27 (1.59)
|
|
| 282 | JPH2 Junctophilin-2 | 20q13.12 | | Hypertrophic cardiomyopathy related to junctophilin - (10.18, 10.84)
| | Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18, 10.84)
| | Dilated cardiomyopathy, 2E - CMD2E (10.18, 10.84)
|
|
| 283 | JUP Junction plakoglobin | 17q21.2 | | arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.121, 10.130)
| | naxos disease - (10.121, 10.130)
|
|
| 284 | KARS Lysyl-tRNA synthetase | 16q23.1 | | Axonal neuropathy recessive - CMTRIB (14.85)
|
|
| 285 | KBTBD13 Kelch repeat and BTB (POZ) domain containing 13 | 15q22.31 | | Nemaline myopathy 6 - NEM6 (1.29, 3.6)
| | LGMD related to KBTBD13 - (1.29, 3.6)
|
|
| 286 | KCNA1 Potassium voltage-gated channel, shaker-related subfamily, member 1 | 12p13 | | Episodic ataxia with myokymia - EA1 (7.12)
|
|
| 287 | KCNA5 Potassium voltage-gated channel, shaker-related subfamily, member 5 | 12p13.32 | | atrial fibrillation, familial - ATFB7 (10.160)
|
|
| 288 | KCNC3 Potassium voltage-gated channel, Shaw-related subfamily, member 3 | 19q13.33 | | Spinocerebellar ataxia 13 - SCA13 (13.12)
|
|
| 289 | KCND3 Potassium voltage-gated channel, Shal-related subfamily, member 3 | 1p13.2 | | Spinocerebellar ataxia 19 - SCA19 (10.181, 13.17)
| | Brugada syndrome 9 - BRGDA9 (10.181, 13.17)
|
|
| 290 | KCNE1 Potassium voltage-gated channel, Isk-related family, member 1 | 21q22.12 | | Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.136, 10.153)
| | Long QT syndrome-5 - LQT5 (10.136, 10.153)
|
|
| 291 | KCNE2 Potassium voltage-gated channel, Isk-related family, member 2 | 21q22.12 | | Atrial fibrillation, 4 - ATFB4 (10.137, 10.157)
| | Long QT syndrome-6 - LQT6 (10.137, 10.157)
|
|
| 292 | KCNE3 Potassium voltage-gated channel, Isk-related family, member 3 | 11q13.4 | | Brugada syndrome 6 - BRGDA6 (7.11, 10.178)
| | Hypokalaemic periodic paralysis - HOKPP (7.11, 10.178)
|
|
| 293 | KCNH2 Voltage-gated potassium channel, subfamily H, member 2 | 7q36.1 | | Short qt syndrome 1 - SQT1 (10.133, 10.149)
| | Long QT syndrome-2 - LQT2 (10.133, 10.149)
|
|
| 294 | KCNJ18 Kir2.6 (inwardly rectifying potassium channel 2.6) | 17p11.2 | | Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
|
|
| 295 | KCNJ2 Potassium channel, inwardly rectifying, dubfamily J, member 2 | 17q24.3 | | Long QT syndrome-7 - LQT7 (10.138, 10.151, 10.162)
| | Atrial fibrillation, 9 - ATFB9 (10.138, 10.151, 10.162)
| | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.138, 10.151, 10.162)
| | Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.138, 10.151, 10.162)
|
|
| 296 | KCNJ5 Potassium inwardly-rectifying channel, subfamily J, member 5 | 11 q24.3 | | Long QT syndrome 13 - LQT13 (10.144, 10.148)
| | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.144, 10.148)
|
|
| 297 | KCNQ1 Potassium voltage-gated channel, KQT-like subfamily, member 1 | 11p15.5-p15.4 | | Atrial fibrillation, 3 - ATFB3 (10.132, 10.150, 10.152, 10.156)
| | jervell and lange-nielsen syndrome - JLNS1 (10.132, 10.150, 10.152, 10.156)
| | Romano-Ward syndrome - RWS (10.132, 10.150, 10.152, 10.156)
| | Long QT syndrome-1 - LQT1 (10.132, 10.150, 10.152, 10.156)
|
|
| 298 | KIAA0196 Strumpellin | 8q24.13 | | Spastic paraplegia 8 - SPG8 (15.4)
|
|
| 299 | KIDINS220 kinase D-interacting substrate, 220kDa | 2p25.1 | | Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.22)
|
|
| 300 | KIF1A Kinesin family member 1A | 2q37.3 | | Neuropathy, hereditary sensory, type IIC - HSN2C (14.115, 15.38)
| | Spastic paraplegia 30 - SPG30 (14.115, 15.38)
|
|
| 301 | KIF1B Kinesin family member 1B(M) | 1p36.2 | | Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.47)
|
|
| 302 | KIF1C kinesin family member 1C | 17p13.2 | | ataxia, spastic, 2, autosomal recessive - SPAX2 (15.77)
|
|
| 303 | KIF20A Kinesin family member 20A | 5q31.2 | | Restrictive cardiomyopathy, 6 - RCM6 (10.97)
|
|
| 304 | KIF21A Kinesin family member 21A | 12q12 | | Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
|
|
| 305 | KIF26B Kinesin family member 26B | 1q44 | | Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.100)
|
|
| 306 | KIF5A Kinesin family member 5A | 12q13.13 | | Spastic paraplegia 10 - SPG10 (12.71, 14.73, 15.6)
| | CMT2 related to KIF5A - (12.71, 14.73, 15.6)
| | Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.71, 14.73, 15.6)
|
|
| 307 | KLC2 Kinesin light chain 2 | 11q13.2 | | Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.70)
|
|
| 308 | KLHL40 Kelch-like family member 40 | 2p22.1 | | Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
|
|
| 309 | KLHL41 Kelch-like family member 41 | 2q31.1 | | Nemaline myopathy - NEM9 (3.9)
|
|
| 310 | KLHL9 Kelch-like homologue 9 | 9p21.2-p22.3 | | Early onset distal myopathy with KLHL9 mutations - (4.22)
|
|
| 311 | KY Kyphoscoliosis peptidase | 3q22.2 | | Myopathy microfibrillar type 7 - MFM7 (5.8)
|
|
| 312 | L1CAM L1 cell adhesion molecule | Xq28 | | CRASH syndrome - L1CAM (15.72)
| | CRASH syndrome - HSAS (15.72)
| | MASA syndrome - L1CAM (15.72)
| | Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.72)
|
|
| 313 | LAMA2 Laminin alpha 2 chain of merosin | 6q22-q23 | | Muscular dystrophy, congenital merosin-deficient - MDC1A (1.55, 2.1)
| | LGMDR23 - (1.55, 2.1)
|
|
| 314 | LAMA4 Laminin alpha 4 | 6q21 | | Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.73)
|
|
| 315 | LAMA5 Laminin, Alpha 5 | 20q13.33 | | Presynaptic congenital myasthenic syndrome - (11.38)
|
|
| 316 | LAMB2 Laminin, beta 2 (laminin S) | 3p21 | | Congenital myasthenic syndrome with nephrotic syndrome - NPHS5 (11.34)
|
|
| 317 | LAMP2 Lysosomal-associated membrane protein 2 precursor | Xq24 | | Danon disease - (5.17)
| | Glycogen storage disease IIb - GSD2B (5.17)
|
|
| 318 | LARGE1 LARGE xylosyl- and glucuronyltransferase 1 | 22q12.3 | | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.34)
| | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.34)
|
|
| 319 | LAS1L Las1-like ribosome biogenesis factor | Xq12 | | Spinal muscular atrophy with respiratory distress (SMARD) - (12.45)
|
|
| 320 | LDB3 LIM domain binding 3 | 10q22 | | myofibrillar myopathy ZASP-related - MFM4 (4.20, 5.5, 10.102, 10.26, 10.41)
| | cardiomyopathy, dilated 1C - CMD1C (4.20, 5.5, 10.102, 10.26, 10.41)
| | Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.20, 5.5, 10.102, 10.26, 10.41)
| | Left ventricular noncompaction 3 - LVNC3 (4.20, 5.5, 10.102, 10.26, 10.41)
|
|
| 321 | LDHA Lactate dehydrogenase A | 11p15.4 | | Glycogen storage disease XI - GSD11 (9.16)
| | Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.16)
|
|
| 322 | LIG3 Ligase III DNA ATP-Dependent | 17q12 | | Mitochondrial DNA depletion syndrome 20 (MNGIE type) - MTDPS20 (16.86)
|
|
| 323 | LIMS2 LIM and senescent cell antigen-like domains 2 | 2q14.3 | | Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.62)
|
|
| 324 | LITAF Lipopolysaccharide-induced TNF factor | 16p13.3-p12 | | Hereditary motor and sensory, type 1C - CMT1C (14.3)
|
|
| 325 | LMNA Lamin A/C | 1q22 | | Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Hutchinson-Gilford progeria syndrome - HGPS (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | restrictive dermopathy - (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Lipodystrophy, familial partial, type 2 - FPLD2 (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Cardiomyopathy, dilated, 1A - CMD1A (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Emery-Dreifuss Autosomal recessive - EDMD3 (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
| | Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.3, 1.4, 1.25, 2.17, 10.39, 14.79)
|
|
| 326 | LMOD2 Leiomodin 2 | 7q31.32 | | Dilated cardiomyopathy, 2G - CMD2G (10.86)
|
|
| 327 | LMOD3 Leiomodin 3 (fetal) | 3p14.1 | | Nemaline myopathy - NEM10 (3.10)
|
|
| 328 | LPIN1 Lipin 1 (phosphatidic acid phosphatase 1) | 2p25.1 | | Reccurrent myoglobinuria, autosomal recessive - (9.29)
|
|
| 329 | LRIF1 Ligand-Dependent Nuclear Receptor-Interacting Factor 1 | 1p13.3 | | Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)
|
|
| 330 | LRP10 Low Density Lipoprotein Receptor-Related Protein 10 | 14q11.2 | | Amyotrophic lateral sclerosis - (12.79)
|
|
| 331 | LRP12 Low density lipoprotein receptor-related protein 12 | 8q22.3 | | Oculopharyngodistal myopathy 1 - OPDM1 (5.21)
|
|
| 332 | LRP4 LDL receptor related protein 4 | 11p11.2 | | Congenital myasthenic syndrome - CMS17 (11.25)
|
|
| 333 | LRSAM1 Leucine rich repeat and sterile alpha motif containing 1 | 9q33.3 | | Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.61)
|
|
| 334 | MACF1 Microtubule-actin cross-linking factor 1 | 1p34.3 | | Spectraplakinopathy - (16.80)
|
|
| 335 | MAG Myelin associated glycoprotein | 19q13.12 | | Spastic paraplegia 75, autosomal recessive - SPG75 (15.63)
|
|
| 336 | MAP3K20 Mitogen-activated protein kinase kinase 20 | 2q31.1 | | Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.21)
|
|
| 337 | MAPT Microtubule associated protein Tau | 17q21.31 | | Lower motor neuron disease with respiratory failure related to MAPT - (12.102)
|
|
| 338 | MARS Methionyl-tRNA synthetase | 12q13.3 | | Charcot-Marie-Tooth 2 - (14.63)
|
|
| 339 | MARS2 Methionyl-tRNA synthetase 2, mitochondrial(M) | 2q33-34 | | autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
|
|
| 340 | MATR3 Matrin 3 | 5q31 | | Vocal cord and pharyngeal distal myopathy - VCPDM (4.13, 12.67)
| | Familial amyotrophic lateral sclerosis - ALS21 (4.13, 12.67)
|
|
| 341 | MB Myoglobin | 22q12.3 | | Myopathy with characteristic sarcoplasmic inclusions - (5.41)
|
|
| 342 | MCM3AP Minichromosome maintenance 3-associated protein | 21q22.3 | | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.103, 14.97)
| | Charcot-Marie-Tooth disease, axonal - (12.103, 14.97)
|
|
| 343 | MCOLN1 Mucopilin 1 | 19p13.2 | | Lysosomal storage myopathy - ML4 (3.67)
|
|
| 344 | MEGF10 Multiple EGF-like-domains 10 | 5q23.2 | | Recessive congenital myopathy with minicores - (3.34, 3.35)
| | Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.34, 3.35)
|
|
| 345 | MET MET protooncogene | 7q31.2 | | Arthrogryposis, distal type 11 - DA11 (16.21)
|
|
| 346 | MFN2 Mitofusin 2(M) | 1p36.22 | | Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.48, 14.72, 14.78)
| | Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.48, 14.72, 14.78)
| | Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.48, 14.72, 14.78)
|
|
| 347 | MGME1 Mitochondrial genome maintenance exonuclease 1(M) | 20p11.23 | | Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.53)
|
|
| 348 | MIB1 Mindbomb homolog 1 (drosophila) | 18q11.2 | | Left ventricular noncompaction 7 - LVNC7 (10.106)
|
|
| 349 | MICU1 Mitochondrial Calcium Uptake Protein 1 | 10q22.1 | | Myopathy with extrapyramidal signs - MPXPS (5.42)
|
|
| 350 | MLIP Muscular LMNA-interacting protein | 6p12.1 | | Myopathy with rhabdomyolysis and myalgia - (9.13)
|
|
| 351 | MME Membrane metallo-endopeptidase | 3q25.2 | | Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.90)
| | Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.90)
|
|
| 352 | MORC2 MORC family CW-type zinc finger 2 | 2q12.2 | | Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.67)
|
|
| 353 | MPDU1 Mannose-P-dolichol utilization defect 1 | 17p13.1 | | Congenital disorder of glycosylation type 1 - CDG1F (2.36)
|
|
| 354 | MPV17 MpV17 mitochondrial inner membrane protein(M) | 2p23.3 | | Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.81)
|
|
| 355 | MPZ Myelin protein zero | 1q22 | | Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| | Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| | Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| | Neuropathy, congenital hypomyelinating, 2 - CHN2 (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| | Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| | Dejerine-Sottas syndrome - DSSA (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
|
|
| 356 | MRE11A MRE11 meiotic recombination 11 homolog A | 11q21 | | ataxia telangiectasia-like disorder - ATLD (13.94)
|
|
| 357 | MRPL3 Mitochondrial ribosomal protein L3(M) | 3q21-q23 | | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.34)
|
|
| 358 | MRPL44 Mitochondrial ribosomal protein L44(M) | 2q36.1 | | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.36)
|
|
| 359 | MRPS25 Mitochondrial ribosomal protein S25(M) | 3p25.1 | | Combined oxidative phosphorylation deficiency 50 - COXPD50 (16.68)
|
|
| 360 | MSTN Myostatin | 2q32.2 | | Muscle hypertrophy - MSLHP (5.27)
|
|
| 361 | MSTO1 Misato homolog 1 (Drosophila)(M) | 1q22 | | Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.52, 13.100, 16.72)
|
|
| 362 | MTM1 Myotubularin | Xq28 | | Myotubular myopathy, X-linked - MTM1 (3.22)
|
|
| 363 | MTMR2 Myotubularin-related protein 2 | 11q22 | | Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.23)
|
|
| 364 | MTO1 Mitochondrial tRNA translation optimization 1(M) | 6q13 | | Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.35)
|
|
| 365 | MTPAP Mitochondrial poly(A) polymerase(M) | 10p12.1 | | Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
|
|
| 366 | MURC Muscle-related coiled-coil protein | 9q31.1 | | Dilated cardiomyopathy related to MURC - (10.90)
|
|
| 367 | MUSK Muscle, skeletal, receptor tyrosine kinase | 9q31.3-q32 | | Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 16.26)
| | Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 16.26)
| | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 (11.17, 16.26)
|
|
| 368 | MYBPC1 Myosin-binding proteinC, slow type | 12q23.2 | | Arthrogryposis, distal, type 1B - DA1B (12.84, 16.10)
| | Lethal Congenital Contracture Syndrome 4 - LCCS4 (12.84, 16.10)
|
|
| 369 | MYBPC3 Cardiac myosin binding protein-C | 11p11.2 | | Cardimyopathy, dilated, 1A - CMD1A (3.46, 10.4, 10.109, 10.76)
| | Dilated cardiomyopathy related to MYBPC3 - (3.46, 10.4, 10.109, 10.76)
| | congenital skeletal myopathy and fatal cardiomyopathy - (3.46, 10.4, 10.109, 10.76)
| | Left ventricular noncompaction 10 - LVNC10 (3.46, 10.4, 10.109, 10.76)
| | Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.46, 10.4, 10.109, 10.76)
|
|
| 370 | MYH14 Myosin, heavy chain 14, non muscle | 19q13.33 | | Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.101)
|
|
| 371 | MYH2 Myosin, heavy polypeptide 2, skeletal muscle | 17p13.1 | | Myopathy congenital, with fiber-type disproportion - CFTD (3.39)
| | Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.39)
| | Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.39)
|
|
| 372 | MYH3 Myosine, heavy chain 3, skeletal muscle, embryonic | 17p13 | | Arthrogryposis, distal, type 2A - DA2A (16.11, 16.14)
| | Arthrogryposis, distal, type 2B - DA2B (16.11, 16.14)
|
|
| 373 | MYH6 Myosin heavy chain 6 | 14q12 | | Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.185, 10.68)
| | Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.185, 10.68)
| | Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.185, 10.68)
| | Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.185, 10.68)
|
|
| 374 | MYH7 Myosin, heavy polypeptide 7, cardiac muscle, beta | 14q12 | | Cardiomyopathy, dilated, 1S - CMD1S (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
| | Myopathy, distal 1 - MPD1 (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
| | cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
| | Left ventricular noncompaction 5 - LVNC5 (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
| | Myopathy, myosin storage, autosomal dominant - MSMB (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
| | Myosin storage myopathy - (3.19, 3.36, 3.37, 3.38, 3.65, 4.6, 10.104, 10.56)
|
|
| 375 | MYH8 Myosin heavy chain, 8, skeletal muscle, perinatal | 17p13 | | Myosin, heavy chain, perinatal - MYH8 (16.19)
|
|
| 376 | MYL1 Myosin, light polypeptide 1, alkali, skeletal fast | 2q34 | | Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA (3.57)
|
|
| 377 | MYL2 Myosin light chain 2 | 12q23-q24.3 | | myopathy, congenital, with fiber-type disproportion - CFTD (3.20, 10.9)
| | Cardiomyopathy, familial hypertrophic, 10 - CMH10 (3.20, 10.9)
| | Cardiomyopathy, hypertrophic, 10 - CMH10 (3.20, 10.9)
|
|
| 378 | MYL3 Myosin light chain 3 | 3p21.3-p21.2 | | Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
|
|
| 379 | MYL4 Myosin, Light Chain 4, Alkali, Atrial, Embryonic | 17q21.32 | | ATFB18 - Atrial fibrillation (10.171)
|
|
| 380 | MYLK2 Myosin light chain kinase 2 | 20q13.31 | | cardiomyopathy, familial hypertrophic - CMH (10.15)
|
|
| 381 | MYLPF Myosin Light Chain Phosphorylatable Fast Skeletal Muscle | 16p11.2 | | Segmental amyoplasia with Distal Arthrogryposis - DA1C (16.83)
|
|
| 382 | MYMK Myomaker | 9q34.2 | | Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.53)
|
|
| 383 | MYO18B Myosin XVIIIB | 22q12.1 | | Nemaline Myopathy with
Cardiomyopathy - (3.12)
| | Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.12)
|
|
| 384 | MYO9A Myosin IXA | 15q23 | | Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.32)
|
|
| 385 | MYO9B Myosin IXB | 19p13.11 | | Charcot-Marie-Tooth disease, axonal - (14.99)
|
|
| 386 | MYOD1 Myogenic Differentiation Antigen 1 | 11p15.1 | | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF (16.84)
|
|
| 387 | MYOT Myotilin | 5q31 | | Myofibrillar myopathy, myotilin related - MFM3 (1.24, 4.17, 5.3, 5.4)
| | Spheroid body myopathy - (1.24, 4.17, 5.3, 5.4, 5.4)
| | Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.24, 4.17, 5.3, 5.4, 5.4)
|
|
| 388 | MYOZ2 Myozenin 2, or calsarcin 1, a Z disk protein | 4q26 | | Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
| | Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)
|
|
| 389 | MYPN Myopalladin | 10q21.1 | | Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.11, 10.24, 10.74, 10.95)
| | Nemaline myopathy - NEM11 (3.11, 10.24, 10.74, 10.95)
|
|
| 390 | NAGLU N-acetyl-alpha-glucosaminidase | 17q21.2 | | Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.64)
|
|
| 391 | NARS1 Asparaginyl-tRNA Synthetase 1 | 18q21.31 | | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.133)
|
|
| 392 | NDRG1 N-myc downstream regulated gene 1 | 8q24.3 | | Charcot-Marie-Tooth disease, type 4D - CMT4D (14.27)
| | Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.27)
| | Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.27)
|
|
| 393 | NDUFAF1 NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M) | 15q15.1 | | patient with HCM and isolated respiratory complex I deficiency - (10.31)
| | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.31)
| | Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.31)
|
|
| 394 | NEB Nebulin | 2q22 | | Distal myopathy with nebulin defect - (3.2, 4.18, 4.19)
| | Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.18, 4.19)
|
|
| 395 | NEFH Neurofilament, heavy polypeptide | 22q12.2 | | Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.72, 14.68)
| | Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.72, 14.68)
|
|
| 396 | NEFL Neurofilament, light polypeptide 68kDa | 8p21 | | Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.20, 14.52)
| | Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.20, 14.52)
| | Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.20, 14.52)
|
|
| 397 | NEK1 Never in motosis gene A-related kinase 1 | 4q33 | | Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.70)
|
|
| 398 | NEK9 Never in mitosis gene A-related kinase 9 | 14q24.3 | | Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.90)
|
|
| 399 | NEXN Nexilin(F-actin binding protein) | 1p32-p31 | | Hypertrophic cardiomyopathy related to nexilin - (10.21, 10.66)
| | Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.21, 10.66)
| | Cardiomyopathy, dilated, 1CC - CMD1CC (10.21, 10.66)
|
|
| 400 | NGF Nerve growth factor (beta polypeptide) | 1p13.1 | | neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.108)
|
|
| 401 | NIPA1 Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1 | 15q11.2 | | Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
|
|
| 402 | NKX6-2 NK6 homeobox 2 | 10q26.3 | | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.82)
|
|
| 403 | NMNAT2 Nicotinamide nucleoside adenyltransferase 2 | 1q25.3 | | Polyneuropathy with erythromelalgia - (14.121)
|
|
| 404 | NOP56 NOP56 ribonucleoprotein | 20p13 | | Spinocerebellar ataxia 31 - SCA36 (13.32)
|
|
| 405 | NOTCH2NLC Notch2 N-terminal-like protein | 1q21.2 | | Neuronal intranuclear inclusion diseases - NIID (5.23, 14.131, 14.77)
| | Oculopharyngodistal myopathy - (5.23, 14.131, 14.77)
| | Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - CMT2 (5.23, 14.131, 14.77)
|
|
| 406 | NPPA Natriuretic peptide precursor A | 1p36.22 | | atrial fibrillation, familial, 6 - ATFB6 (10.159)
|
|
| 407 | NSUN3 NOP2/SUN RNA Methyltransferase Family Member 3 | 3q11.2 | | Combined oxidative phosphorylation deficiency - COXPD48 (16.67)
|
|
| 408 | NT5C2 5'-nucleotidase, cytosolic II | 10q24-q32 | | Spastic paraplegia 45, autosomal recessive - SPG45 (15.44)
|
|
| 409 | NTRK1 neurotrophic receptor tyrosine kinase 1 | 1biq23.1 | | Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.107)
|
|
| 410 | NUP155 Nucleoporin 155 kDa | 5p13.2 | | Atrial fibrillation, 15 - ATFB15 (10.168)
|
|
| 411 | NUP88 Nucleoporin 88kD | 17p13.2 | | Fetal akinesia deformation sequence 4 - FADS4 (16.29)
|
|
| 412 | OPA1 optic atrophy 1(M) | 3q28-q29 | | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.57, 16.59)
| | Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.57, 16.59)
|
|
| 413 | OPTN Optineurin | 10p14 | | Amyotrophic lateral sclerosis 12 - ALS12 (12.58)
|
|
| 414 | ORAI1 ORAI calcium release-activated calcium modulator 1 | 12q24.31 | | Tubular aggregate myopathy 2 - TAM2 (5.39)
|
|
| 415 | PABPN1 Poly(A) binding protein, nuclear 1 | 14q11.2-q13 | | Oculopharyngeal muscular dystorphy - OPMD (5.20)
|
|
| 416 | PAX7 Paired Box gene 7 | 1p36.13 | | Myopathy, congenital, progressive with scoliosis - MYOSCO (3.61)
|
|
| 417 | PCNA Proloferating cell nuclear antigen | 20p12.3 | | Ataxia telangiectasia-like disorder 2 - ATLD2 (13.95)
|
|
| 418 | PDK3 Pyruvate dehydrogenase kinase, isoenzyme 3(M) | Xp22.11 | | Charcot-Marie-Tooth neuropathy X-linked 6 - (14.42)
|
|
| 419 | PDYN Prodynorphin | 20p13-p12-3 | | Spinocerebellar ataxia 23 - SCA23 (13.21)
|
|
| 420 | PEX7 Peroxisomal biogenesis factor 7 | 6q21-q22 | | Refsum disease, adult - RD (13.98)
|
|
| 421 | PFKM Phosphofructokinase, muscle | 12q13.3 | | Glycogen storage disease VII - PFKM (9.5)
|
|
| 422 | PFN1 Profilin 1 | 17p13.2 | | Amyotrophic lateral sclerosis 18 - ALS18 (12.64)
|
|
| 423 | PGAM2 Phosphoglycerate mutase 2 (muscle) | 7p13-p12 | | Glycogen storage disease X - GSD10 (9.15)
| | Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.15)
|
|
| 424 | PGK1 Phosphoglycerate kinase 1 | Xq13 | | posphoglycerate kinase deficiency - (9.14)
|
|
| 425 | PGM1 Phosphoglucomutase 1 | 1p31 | | Glycogen storage disease XIV - GSD14 (9.7)
|
|
| 426 | PHKA1 Phosphorylase b kinase, alpha submit | Xq13 | | glycogen storage disease, type IXD - GSD9D (9.6)
|
|
| 427 | PHOX2A Paired-like aristaless homeobox protein 2A | 11q13.2 | | Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
|
|
| 428 | PHYH Phytanoyl-CoA 2-hydroxylase | 10q13 | | Refsum disease, adult - RD (13.97)
|
|
| 429 | PIEZO2 Piezo-type mechanosensitive ion channel component 2 | 18p11.22-p11.21 | | Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
| | Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
|
|
| 430 | PIGK Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein | 1p31.1 | | Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS (13.103)
|
|
| 431 | PIP5K1C Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | 19p13.3 | | Lethal congenital contractural syndrome 3 - LCCS3 (12.83)
|
|
| 432 | PITRM1 Pitrilysin metallopeptidase 1 | 10p15.2 | | Spinocerebellar ataxia, autosomal recessive 30 - SCAR30 (13.86)
|
|
| 433 | PKP2 Plakophilin 2 | 12p11.21 | | Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.118)
|
|
| 434 | PLD3 Phospholipase D family, member 3 | 19q13.2 | | Spinocerebellar ataxia 46 - SCA46 (13.42)
|
|
| 435 | PLEC Plectin | 8q24.3 | | Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.47, 1.65, 5.26, 11.36)
| | Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.47, 1.65, 5.26, 11.36)
| | Myasthenic syndrome, with plectin defect - (1.47, 1.65, 5.26, 11.36)
| | Limb girdle muscular dystrophy with ophthalmoplegia - (1.47, 1.65, 5.26, 11.36)
|
|
| 436 | PLEKHG5 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | 1p36 | | spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.86)
| | Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.86)
|
|
| 437 | PLIN4 Perilipin 4 | 19p13.3 | | Distal Myopathy - (4.27)
|
|
| 438 | PLN Phospholamban | 6q22.1 | | Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.53)
| | Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.53)
| | Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.53)
|
|
| 439 | PLP1 Proteolipid protein 1 | Xq22 | | Spastic paraplegia 2 - SPG2 (15.73)
|
|
| 440 | PMP2 peripheral myelin protein-2 | 8q21.13 | | Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
|
|
| 441 | PMP22 Peripheral myelin protein 22 | 17p12-p11.2 | | Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.43)
| | Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.43)
| | Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.43)
| | Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.43)
|
|
| 442 | PNKP polynucleotide kinase 3’-phosphatase | 19q13.33 | | Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.80, 14.92)
| | Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.80, 14.92)
|
|
| 443 | PNPLA2 Adipose triglyceride lipase (desnutrin) | 1p15.5 | | Neutral lipid storage disease without ichthyosis - NLSDM (9.28)
|
|
| 444 | PNPLA6 Patatin-like phospholipase domain containing 6 | 19p13.3-p13.2 | | Spastic paraplegia 39, autosomal recessive - SPG39 (15.41)
|
|
| 445 | PNPLA8 Patatin-like phospholipase domain containing 8(M) | 7q31.1 | | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.30)
|
|
| 446 | POGLUT1 Protein O-Glucosyltransferase 1 | 3q13.33 | | Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.51)
|
|
| 447 | POLG Polymerase (DNA directed), gamma(M) | 15q25 | | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.92, 16.33, 16.39, 16.47, 16.48)
| | spinocerebellar ataxia with epilepsy, included - SCAE (13.92, 16.33, 16.39, 16.47, 16.48)
| | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.92, 16.33, 16.39, 16.47, 16.48)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.92, 16.33, 16.39, 16.47, 16.48)
| | Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.92, 16.33, 16.39, 16.47, 16.48)
| | Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.92, 16.33, 16.39, 16.47, 16.48)
|
|
| 448 | POLG2 Mitochondrial DNA polymerase, accessory subunit(M) | 17q24.1 | | progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.36)
|
|
| 449 | POLR3B Polymerase III, RNA, Subunit B | 12q23.3 | | Charcot-Marie-Tooth neuropathy - CMT1I (14.9)
|
|
| 450 | POMGNT1 O-linked mannose beta1,2-N-acetylglucosaminyltransferase | 1p34.1 | | Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.45, 2.23, 2.27)
| | Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.45, 2.23, 2.27)
| | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.45, 2.23, 2.27)
| | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.45, 2.23, 2.27)
|
|
| 451 | POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 | 3p22.1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.56, 2.25)
| | Walker-Warburg syndrome - WWS (1.56, 2.25)
| | LGMDR24 - (1.56, 2.25)
|
|
| 452 | POMK Protein-O-mannose kinase | 8p11.21 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.67, 2.41)
| | Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.67, 2.41)
|
|
| 453 | POMT1 Protein-O-mannosyltransferase 1 | 9q34.1 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.41, 2.20, 2.32)
| | Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.41, 2.20, 2.32)
| | Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.41, 2.20, 2.32)
| | Walker-Warburg syndrome - WWS (1.41, 2.20, 2.32)
|
|
| 454 | POMT2 Protein-O-mannosyltransferase 2 | 14q24.3 | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.44, 2.21, 2.29)
| | Walker-Warburg syndrome - WWS (1.44, 2.21, 2.29)
| | Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.44, 2.21, 2.29)
| | Muscle-eye-brain disease - MEB (1.44, 2.21, 2.29)
|
|
| 455 | POPDC3 Popeye domain-containing protein 3 | 6q21 | | LGMDR26 - LGMDR26 (1.58)
|
|
| 456 | PPCS Phosphopantothenosylcystein synthetase | 1p34.2 | | Dilated cardiomyopathy, 2C - CDMD2C (10.82)
|
|
| 457 | PPP2R2B Protein phosphatase 2 regulatory subunit B, beta isoform | 5q32 | | Spinocerebellar ataxia 12 - SCA12 (13.11)
|
|
| 458 | PRDM12 PR/SET domain 12 (positive regulatory domain zinc finger protein 12) | 9q34.12 | | Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.111)
|
|
| 459 | PRDM16 PR Domain-Containing Protein 16 | 1p36.32 | | Dilated cardiomyopathy related to PRDM16 - CMD1LL (10.107, 10.75)
| | LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 (10.107, 10.75)
| | Left ventricular noncompaction 8 - LVNC8 (10.107, 10.75)
|
|
| 460 | PREPL Prolyl endopeptidase-like | 2p21 | | Myasthenic syndrome, congenital, 22 - CMS22 (11.30)
|
|
| 461 | PRKAG2 Protein kinase, AMP-activated, gamma 2 non-catalytic subunit | 7q31 | | Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
| | glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
|
|
| 462 | PRKCG Protein kinase C, gamma | 19q13.42 | | Spinocerebellar ataxia 14 - SCA14 (13.13)
|
|
| 463 | PRPH Peripherin | 12q13.12 | | Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.73)
|
|
| 464 | PRPS1 Phosphoribosyl pyrophosphate synthetase 1 | Xq21.32-q24 | | charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.41)
|
|
| 465 | PRUNE1 Prune exopolyphosphatase 1 | 1q21.3 | | Spinal muscular atrophy, related to PRUNE1 - (12.99)
|
|
| 466 | PRX Periaxin | 19q13 | | Charcot-Marie-Tooth disease, type 4F - CMT4F (14.30, 14.46)
| | Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.30, 14.46)
|
|
| 467 | PSAT1 Phosphoserine Aminotransferase 1 | 9q21.2 | | Progressive neuropathy - (12.107)
|
|
| 468 | PSEN1 Presenilin 1 | 14q24.2 | | Cardiomyopathy, dilated, 1U - CMD1U (10.58)
|
|
| 469 | PSEN2 Presenilin 2 | 1q42.13 | | Cardiomyopathy, dilated, 1W - CMD1V (10.59)
|
|
| 470 | PTRH2 Peptidyl-tRNA Hydrolase 2(M) | 17q23.1 | | Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.71)
|
|
| 471 | PUM1 Pumilio, Drosophila, Homologh of, 1 | 1p35.2 | | Spinocerebellar ataxia 47 - SCA47 (13.43)
|
|
| 472 | PUS1 Pseudouridylate synthase 1(M) | 12q24.33 | | Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.60)
|
|
| 473 | PYGM Glycogen phosphorylase | 11q12-q13.2 | | McArdle disease - PYGM (9.4)
|
|
| 474 | PYROXD1 Pyridine nucleotidedisulphide oxidoreductase domain 1 | 12p12.1 | | Early-onset myofibrillar myopathy with PYRODX1 defect - (1.66, 3.63, 5.9)
| | LGMD related to PYROXD1 - (1.66, 3.63, 5.9)
| | Congenital Myopathy related to PYROXD1 - (1.66, 3.63, 5.9)
|
|
| 475 | RAB7A RAB7, member RAS oncogene family | 3q21 | | Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.49)
|
|
| 476 | RAF1 V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1 | 3p25.2 | | Dilated cardiomyopathy related to RAF1 - CMD1NN (10.77)
|
|
| 477 | RAPSN Rapsyn | 11p11.2-p11.1 | | Myasthenic syndrome, congenital - CMS1D (11.19, 16.28)
| | Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.28)
| | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency - CMS11 (11.19, 16.28)
|
|
| 478 | RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1) | 20p13 | | Polyglucosan Body Myopathy 1 with or without immunodeficiency - PGBM1 (9.11)
|
|
| 479 | RBM20 RNA binding motif protein 20 | 10q25.3 | | Cardiomyopathy, dilated, 1DD - CMD1DD (10.67)
|
|
| 480 | RBM7 RNA binding motif protein 7 | 11q23.2 | | Spinal motor neuropathy - (12.33)
|
|
| 481 | REEP1 Receptor accessory protein 1(M) | 2p11.2 | | Distal spinal muscular atrophy, type VB - DSMAVB (12.24, 15.12)
| | Spastic paraplegia 31 - SPG31 (12.24, 15.12)
| | Neuronopathy, distal hereditary motor, type VB - HMN5B (12.24, 15.12)
|
|
| 482 | REEP2 Receptor expression-enhancing proten 2 | 5q31.2 | | Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
| | Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)
|
|
| 483 | RETREG1 Family with sequence similarity 134 member B | 5p15.1 | | Hereditary sensory neuropathy, type IIB - HSAN2B (14.104)
|
|
| 484 | RFC1 Replication Factor C Subunit 1 | 4p14 | | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.122)
|
|
| 485 | RILPL1 Rab-interacting lysosomal protein-like 1 | 12q24.31 | | Oculopharyngodistal myopathy 4 - OPDM4 (5.24)
|
|
| 486 | RNASEH1 Ribonuclease H1(M) | 2p25.3 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)
|
|
| 487 | RNF216 Ring finger protein 216 | 7p22.1 | | Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.99)
|
|
| 488 | RNF220 Ring finger protein 220 | 1p34.1 | | Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy - HLD23 (13.101)
|
|
| 489 | RPH3A Rabphilin 3A | 12q23.3 | | Congenital myasthenic syndrome related to RPH3A - (11.40)
|
|
| 490 | RPL3L Ribosomal protein L3-like | 16p13.3 | | Dilated cardiomyopathy, 2D - CMD2D (10.83)
|
|
| 491 | RRM2B Ribonucleotide reductase M2 B (TP53 inducible)(M) | 8q23.1 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.37, 16.50, 16.51)
| | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.37, 16.50, 16.51)
|
|
| 492 | RTN2 Reticulon 2 | 19q13 | | Spastic paraplegia 12 - SPG12 (15.7)
|
|
| 493 | RUBCN RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein | 3q29 | | Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.71)
|
|
| 494 | RXYLT1 Ribitol xylosyltransferase 1 (transmembrane protein 5) | 12q14.2 | | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
|
|
| 495 | RYR1 Ryanodine receptor 1 (skeletal) | 19q13.1 | | centronuclear myopathy, recessive - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | minicore myopathy with external ophthalmoplegia - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | Dusty core disease related to RYR1 - DuCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
| | Central core disease - CCD (2.53, 3.18, 3.27, 3.29, 3.30, 3.31, 3.44, 3.66, 5.37, 8.1, 16.30)
|
|
| 496 | RYR2 Ryanodine receptor 2 | 1q43 | | Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.112, 10.124)
| | Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.112, 10.124)
| | Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.112, 10.124)
| | Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.112, 10.124)
|
|
| 497 | RYR3 Ryanodine receptor 3 | 15q13-q14 | | Myopathy with nemaline bodies - (3.13)
|
|
| 498 | SACS Sacsin | 13q12 | | Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.96, 14.95, 15.81)
| | Charcot-Marie-Tooth disease, axonal; related to SACS - (13.96, 14.95, 15.81)
| | Spastic ataxia, Charlevoix-Saguenay type - SACS (13.96, 14.95, 15.81)
| | Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.96, 14.95, 15.81)
|
|
| 499 | SAMD9L Sterile Alpha Motif Domain-Containing Protein 9-Like | 7q21.2 | | Spinocerebellar ataxia 49 - SCA49 (13.45, 13.53)
| | Ataxia-pancytopenia syndrome - ATXPC (13.45, 13.53)
|
|
| 500 | SBF1 SET binding factor 1 | 22q13.33 | | Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.25)
|
|
| 501 | SBF2 SET binding factor 2 | 11p15.4 | | charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.24)
|
|
| 502 | SCN11A Sodium voltage-gated channel alpha subunit 11 | 3p22.2 | | Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.110, 14.120)
| | Episodic pain syndrome, familial 3 - FEPS3 (14.110, 14.120)
|
|
| 503 | SCN1B Sodium channel, voltage-gated, type I, beta subunit | 19q13.11 | | Atrial fibrillation, 13 - ATFB13 (10.166, 10.177)
| | Brugada syndrome 5 - BRGDA5 (10.166, 10.177)
|
|
| 504 | SCN2B Sodium channel, voltage-gated, type II, beta subunit | 11q23.3 | | Atrial fibrillation, 14 - ATFB14 (10.167)
|
|
| 505 | SCN3B Sodium channel, voltage-gated, type III, beta subunit | 11 q24.1 | | Atrial fibrillation, 16 - ATFB16 (10.169, 10.179)
| | Brugada syndrome 7 - BRGDA7 (10.169, 10.179)
|
|
| 506 | SCN4A Sodium channel, voltage-gated, type IV, alpha | 17q23-q25.3 | | Hyperkalemic periodic paralysis - HYPP (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Myotonia potassium-aggravatd - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Sodium-channel myasthenia - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Myasthenic syndrome, acetazolamide-responsive - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Myasthenic syndrome, congenital, 16 - CMS16 (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Severe foetal hypokinesia related to SCN4A - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Paramyotonia congenita of Von Eulenburg - PMC (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
| | Potassium-aggravated myotonia - (3.62, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
|
|
| 507 | SCN4B Sodium channel, voltage-gated, type IV, beta subunit | 11q23.3 | | Atrial fibrillation, 17 - ATFB17 (10.141, 10.170)
| | Long QT syndrome 10 - LQT10 (10.141, 10.170)
|
|
| 508 | SCN5A Voltage-gated sodium channel type V alpha | 3p22.2 | | Progressive familial heart block, type I - PFHBI (10.134, 10.163, 10.173, 10.183, 10.43)
| | Cardiomyopathy, dilated, 1E - CMD1E (10.134, 10.163, 10.173, 10.183, 10.43)
| | Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.134, 10.163, 10.173, 10.183, 10.43)
| | Ventricular fibrillation, idiopathic - IVF (10.134, 10.163, 10.173, 10.183, 10.43)
| | Ventricular fibrillation, paroxysmal familial - VF (10.134, 10.163, 10.173, 10.183, 10.43)
| | Hereditary bundle branch system defect - HBBD (10.134, 10.163, 10.173, 10.183, 10.43)
| | Cardiac conduction defect, progressive - PCCD (10.134, 10.163, 10.173, 10.183, 10.43)
| | Brugada syndrome - SCN5A (10.134, 10.163, 10.173, 10.183, 10.43)
| | Atrial fibrillation, 10 - ATFB10 (10.134, 10.163, 10.173, 10.183, 10.43)
| | Long QT syndrome-3 - LQT3 (10.134, 10.163, 10.173, 10.183, 10.43)
|
|
| 509 | SCN9A Sodium voltage-gated channel alpha subunit 9 | 2q24.3 | | Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.105, 14.119)
| | Erythromelalgia, Primary - SFNP (14.105, 14.119)
|
|
| 510 | SCO2 Cytochrome c oxidase assembly protein(M) | 22q13.33 | | Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.37, 14.94)
| | Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.37, 14.94)
|
|
| 511 | SCYL1 SCY1 like pseudokinase 1 | 11q13.1 | | Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.77)
|
|
| 512 | SDHA Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M) | 5p15 | | Recessive neonatal isolated DC - (10.70)
| | Cardiomyopathy, dilated, 1GG - CMD1GG (10.70)
|
|
| 513 | SELENON Selenoprotein N1 | 1p36.13 | | Multiminicore disease, classical form - (2.13, 3.16, 3.32, 5.13)
| | myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.16, 3.32, 5.13)
| | Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.16, 3.32, 5.13)
| | Rigid spine syndrome - RSMD1 (2.13, 3.16, 3.32, 5.13)
| | Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.16, 3.32, 5.13)
| | Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.16, 3.32, 5.13)
|
|
| 514 | SEPT9 Septin 9 | 17q25 | | Familial brachial plexus neuropathy - HNA (14.125)
|
|
| 515 | SETX Senataxin | 9q34.13 | | Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.50, 13.89)
| | Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.50, 13.89)
| | Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.50, 13.89)
|
|
| 516 | SGCA Alpha sarcoglycan | 17q21 | | Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.33)
|
|
| 517 | SGCB Beta sarcoglycan | 4q12 | | Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.34)
|
|
| 518 | SGCD Delta-sarcoglycan | 5q33-q34 | | Dilated Cardiomyopathy, 1L - CMD1L (1.36, 10.49)
| | Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.36, 10.49)
|
|
| 519 | SGCE Sarcoglycan, epsilon | 7q21-q22 | | Myoclonus-dystonia syndrome - DYT11 (16.2)
|
|
| 520 | SGCG Gamma sarcoglycan | 13q12 | | Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.35)
|
|
| 521 | SGPL1 Sphingosine-1-Phosphate Lyase 1 | 10q22.1 | | Charcot-Marie-Tooth disease, axonal - (14.93)
|
|
| 522 | SH3TC2 KIAA1985 protein | 5q32 | | Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.26)
|
|
| 523 | SIGMAR1 Sigma non-opioid intracellular receptor 1 | 9p13.3 | | spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.62)
| | Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.62)
|
|
| 524 | SIL1 SIL1 homolog, endoplasmic reticulum chaperone | 5q31 | | Marinesco-Sjogren syndrome - MSS (13.91)
|
|
| 525 | SLC12A6 Potassium chloride cotransporter KCC3 | 15q13-q15 | | Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.123)
| | Charlevoix disease - SLC12A6 (14.123)
| | Andermann syndrome - SLC12A6 (14.123)
|
|
| 526 | SLC16A1 Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) | 1p13.2 | | Erythrocyte lactate transporter defect - (9.18)
|
|
| 527 | SLC18A3 Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3 | 10q11.2 | | Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.29)
|
|
| 528 | SLC1A3 EAAT1 (excitatory amino acid transporter type 1) | 5p13 | | episodic ataxia type 6 - EA6 (13.49)
|
|
| 529 | SLC22A5 Solute carrier family 22 member 5 | 5q31 | | Carnitine deficiency, systemic primary - CDSP (9.20)
|
|
| 530 | SLC25A1 Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) | 22q11.21 | | Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
|
|
| 531 | SLC25A20 Carnitine-acylcarnitine translocase(M) | 3p21.31 | | Carnitine-acylcarnitine translocase deficiency - CACT (9.21)
|
|
| 532 | SLC25A26 Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 | 3p14.1 | | Mitochondrial myopathy related to SLC25A26 - (16.88)
|
|
| 533 | SLC25A4 Mitochondrial carrier; adenine nucleotide translocator(M) | 4q35 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.34, 16.54, 16.55)
| | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.34, 16.54, 16.55)
| | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.34, 16.54, 16.55)
|
|
| 534 | SLC25A42 Solute carrier family 25 member 42(M) | 19p13.11 | | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.58)
| | Mitochondrial myopathy - (16.58)
|
|
| 535 | SLC25A46 solute carrier family 25 member 46(M) | 5q22.1 | | Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.95)
|
|
| 536 | SLC33A1 Solute carrier family 33 (acetyl- CoA transporter) | 3q25.3 | | Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
|
|
| 537 | SLC52A2 Solute carrier family 52, riboflavin transporter, member 2 | 8q24 | | Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.97)
|
|
| 538 | SLC52A3 Solute carrier family 52, riboflavin transporter, member 3 | 20p13 | | Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.96)
|
|
| 539 | SLC5A7 Solute carrier family 5 (sodium/choline cotransporter), member 7 | 2q12.31 | | Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) - HMN7A (11.28, 12.26)
| | Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.26)
|
|
| 540 | SLC9A1 Solute carrier family 9, member 1 | 1p36.11 | | Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.75)
|
|
| 541 | SLC9A3R1 Solute carrier family 9, member 3, regulator 1 | 17q25.1 | | Hereditary peripheral neuropathy - (14.132)
|
|
| 542 | SMCHD1 Structural maintenance of chromosomes flexible hinge domain containing 1 | 18p11.32 | | Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
|
|
| 543 | SMN1 Survival of motor neuron 1, telomeric | 5q13 | | Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)
| | Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
| | Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)
| | Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)
| | Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)
|
|
| 544 | SMPD4 Sphingomyelin phosphodiesterase 4, neutral membrane | 2q21.1 | | Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.25)
|
|
| 545 | SMPX Small Muscle Protein, X-linked | Xp22.12 | | Myopathy, distal, 7 adult onset, X-linked - MPD7 (4.11)
|
|
| 546 | SNAP25 Synaptosome associated protein 25 | 20p12.2 | | Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.26)
|
|
| 547 | SNTA1 Syntrophin, alpha 1 | 20q11.21 | | Long QT syndrome 12 - LQT12 (10.143)
|
|
| 548 | SNX14 sorting nexin 14 | 6q14.3 | | Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.76)
|
|
| 549 | SOD1 Superoxide dismutase 1, soluble | 21q22.1 | | Amyotrophic lateral sclerosis 1 - ALS1 (12.46, 12.47)
| | Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.46, 12.47)
|
|
| 550 | SORD Sorbitol Dehydrogenase | 15q21.1 | | Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (14.96)
|
|
| 551 | SPAST Spastin | 2p24-p21 | | Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
| | Spastic paraplegia 4 - SPG4 (15.2)
|
|
| 552 | SPEG SPEG complex locus | 2q35 | | Centronuclear myopathy 5 - CNM5 (3.26)
|
|
| 553 | SPG11 SPG11 vesicle trafficking associated, Spatacsin | 15q21.1 | | Spastic paraplegia 11 - SPG11 (12.51, 14.91, 15.26)
| | Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.51, 14.91, 15.26)
| | Amyotrophic lateral sclerosis 5 - ALS5 (12.51, 14.91, 15.26)
|
|
| 554 | SPG20 Spartin | 13q12.3 | | Spastic paraplegia 20 - SPG20 (15.30)
|
|
| 555 | SPG21 Maspardin | 15q21-q22 | | Spastic paraplegia 20 - SPG21 (15.31)
|
|
| 556 | SPG7 Paraplegin(M) | 16q24.3 | | Spastic paraplegia 7 - SPG7 (15.24)
|
|
| 557 | SPTAN1 Spectrin, alpha, nonerythrocytic 1 | 9q34.11 | | Distal motor neuropathy - (12.40)
|
|
| 558 | SPTBN2 Spectrin, Beta, Nonerythrocytic, 2 | 11q13.2 | | Spinocerebellar ataxia 5 - SCA5 (13.5, 13.70)
| | Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.70)
|
|
| 559 | SPTBN4 Spectrin, Beta, Nonerythrocytic, 4 | 19q13 | | Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.51)
|
|
| 560 | SPTLC1 Serine palmitoyltransferase subunit 1 | 9q22.2 | | Neuropathy, hereditary sensory, type 1 - HSN1 (12.80, 14.100)
| | Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.80, 14.100)
| | Amyotrophic lateral sclerosis - (12.80, 14.100)
|
|
| 561 | SPTLC2 Serine palmitoyltransferase long chain base subunit 2 | 14q24.3 | | Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.102)
|
|
| 562 | SQSTM1 Sequestosome 1 | 5q35.3 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.15, 4.24, 12.77)
| | Myopathy, distal, with rimmed vacuoles - DMRV (4.15, 4.24, 12.77)
| | Welander-like distal myopathy - (4.15, 4.24, 12.77)
|
|
| 563 | STAC3 SH3 and cysteine rich domain 3 | 12q13.3 | | Myopathy, congenital, Bailey-Bloh - MYPBB (3.54, 3.55)
| | Myopathy, congenital, with malignant hyperthermia susceptibility - (3.54, 3.55)
|
|
| 564 | STIM1 Stromal interaction molecule 1 | 11p15.4 | | Tubular aggregate myopathy 1 - TAM1 (5.38, 5.43)
| | Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.38, 5.43)
|
|
| 565 | STUB1 STIP1 homology and U-box containing protein 1 | 16p13.3 | | Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.72)
| | Spinocerebellar ataxia 48 - SCA48 (13.44, 13.72)
|
|
| 566 | SUCLA2 Succinate-CoA ligase, ADP-forming, beta subunit(M) | 13q12.2-q13.3 | | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.49)
|
|
| 567 | SUCLG1 Succinate-CoA ligase, alpha subunit(M) | 2p11.2 | | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.52)
|
|
| 568 | SURF1 Surfeit 1(M) | 9q34.2 | | Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.34)
|
|
| 569 | SVIL Supervillin | 10p11.23 | | Myofibrillar myopathy 10 - MFM10 (5.11)
|
|
| 570 | SYNE1 Spectrin repeat containing, nuclear envelope 1 (nesprin 1) | 6q25 | | Dilated cardiomyopathy related to nesprin-1 - (1.5, 10.89, 13.64, 16.22)
| | Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.5, 10.89, 13.64, 16.22)
| | Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.5, 10.89, 13.64, 16.22)
| | Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.5, 10.89, 13.64, 16.22)
|
|
| 571 | SYNE2 Spectrin repeat containing, nuclear envelope 2 (nesprin 2) | 14q23.2 | | Nesprin-2 related muscular dystrophy - EDMD (1.6)
|
|
| 572 | SYT14 Synaptotagmin 14 | 1q32.2 | | Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.67)
|
|
| 573 | SYT2 Synaptotagmin II | 1q32.1 | | Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.39)
| | Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.39)
| | Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.39)
| | Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant - CMS7A (11.14, 11.15, 12.39)
|
|
| 574 | TARDBP TAR DNA binding protein | 1p36.2 | | amyotrophic lateral sclerosis 10 - ALS10 (12.56)
|
|
| 575 | TAZ Tafazzin | Xq28 | | Barth syndrome - BTHS (10.87, 10.99)
| | Endocardial fibroelastosis-2 - G4.5 (10.87, 10.99)
| | Noncompaction of left ventricular myocardium, isolated - INVM (10.87, 10.99)
| | Cardiomyopathy, X-linked dilated - CMD3A (10.87, 10.99)
|
|
| 576 | TBK1 Tank-binding kinase 1 | 12q14.2 | | Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.78)
|
|
| 577 | TBP TATA box binding protein | 6q27 | | Spinocerebellar ataxia 17 - SCA17 (13.15)
|
|
| 578 | TCAP Telethonin | 17q12 | | Dilated cardiomyopathy, 1N - (1.37, 2.16, 10.27, 10.51)
| | Congenital musuclar dystrophy with telethonin defect - (1.37, 2.16, 10.27, 10.51)
| | Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.37, 2.16, 10.27, 10.51)
| | Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.37, 2.16, 10.27, 10.51)
|
|
| 579 | TDP1 Tyrosyl-DNA phosphodiesterase 1 | 14q31-q32 | | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.88)
|
|
| 580 | TDP2 Tyrosyl-DNA phosphodiesterase 2 | 6p22.3 | | Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.79)
|
|
| 581 | TECPR2 Tectonin beta-propeller repeat containing 2 | 14q32 | | Spastic paraplegia 49, autosomal recessive - SPG49 (15.48)
|
|
| 582 | TECRL Trans-2,3-Enoyl-CoA Reductase-Like Protein | 4q13.1 | | Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.126)
|
|
| 583 | TFG TRK-fused gene | 3q13 | | Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.71, 15.56)
| | Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.71, 15.56)
| | Spastic paraplegia 57, autosomal recessive - SPG57 (14.71, 15.56)
|
|
| 584 | TGFB3 Transforming growth factor, beta 3 | 14q24.3 | | Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.111)
| | Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.111)
|
|
| 585 | TGM6 Transglutaminase 6 | 20p13 | | Spinocerebellar ataxia 35 - SCA35 (13.31)
|
|
| 586 | THG1L tRNA-histidine guanyltransferase 1-like protein | 5q33.3 | | Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.84)
|
|
| 587 | TIA1 Cytotoxic granuleassociated RNA binding protein | 2p13 | | Welander distal myopathy - WDM (4.14, 4.15)
|
|
| 588 | TIMM22 Translocase of inner mitochondrial membrane 22(M) | 17q13.3 | | Combined oxidative phosphorylation deficiency 43 - COXPD43 (16.65)
|
|
| 589 | TK2 Thymidine kinase 2, mitochondrial(M) | 16q22-q23 | | Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.41, 16.45)
| | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.41, 16.45)
|
|
| 590 | TMEM126B Transmembrane protein 126B(M) | 11q14.1 | | Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.81)
|
|
| 591 | TMEM168 Transmembrane protein 168 | 7q31.1 | | Brugada syndrome - BRGDA (10.182)
|
|
| 592 | TMEM240 Transmembrane protein 240 | 1p36.33 | | Spinocerebellar ataxia 19 - SCA21 (13.19)
|
|
| 593 | TMEM43 Transmembrane protein 43 | 3p25.1 | | luma related muscular dystrophy - (1.8, 10.115)
| | arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.115)
| | Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.115)
|
|
| 594 | TMEM65 Transmembrane Protein 65 | 8q24.13 | | Mitochondrial myopathy with severe neurological manifestations - (16.70)
|
|
| 595 | TMPO Lamina-associated polypeptide 2 | 12q22 | | Cardiomyopathy, dilated, 1T - CMT1T (10.57)
|
|
| 596 | TNNC1 Slow troponin C | 3p21.3-p14.3 | | Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.63)
| | Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.63)
|
|
| 597 | TNNC2 Troponin C Fast | 20q13.12 | | Congenital myopathy - (3.68)
|
|
| 598 | TNNI2 Troponin I, type 2 | 11p15.5 | | Arthrogryposis, distal, type 2B - DA2B (16.12)
|
|
| 599 | TNNI3 Troponin I, cardiac | 19q13.4 | | Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.69, 10.80, 10.92)
| | Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.69, 10.80, 10.92)
| | Cardiomyopathy, familial restrictive - RCM (10.6, 10.69, 10.80, 10.92)
|
|
| 600 | TNNT1 Slow troponin T | 19q13.4 | | Nemaline myopathy 5 - NEM5 (3.5)
|
|
| 601 | TNNT2 Troponin T2, cardiac | 1q32 | | Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.105, 10.42, 10.94)
| | Left ventricular noncompaction 6 - LVNC6 (10.2, 10.105, 10.42, 10.94)
| | Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.105, 10.42, 10.94)
|
|
| 602 | TNNT3 Troponin T3, skeletal | 11p15.5 | | Arthrogryposis, distal, type 2B - DA2B (3.14, 16.13)
| | Nemalin myopathy with distal arthrogryposis - (3.14, 16.13)
|
|
| 603 | TNPO3 Transportin 3 | 7q32.1-q32.2 | | Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18, 3.64)
| | Congenital Myopathy related to TNPO3 - (1.18, 3.64)
|
|
| 604 | TOMM70 Translocase of Outer Mitochondrial Membrane 70 | 3q12.2 | | Neurological impairment - (13.52)
|
|
| 605 | TOP3A DNA topoisomerase III | 17p11.2 | | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.43)
|
|
| 606 | TOR1A Torsin A | 9q34 | | Torsion dystonia, early onset - EOTD (16.1)
|
|
| 607 | TOR1AIP1 Torsin A interacting protein 1 | 1q25.2 | | LAP1B related muscular dystrophy - (1.9, 11.41)
| | Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 11.41)
| | Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 11.41)
| | Congenital myasthenic syndrome - (1.9, 11.41)
|
|
| 608 | TPM1 Tropomyosin 1 (alpha) | 15q22 | | Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.108, 10.62)
| | Left ventricular noncompaction 9 - LVNC9 (10.3, 10.108, 10.62)
| | Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.108, 10.62)
|
|
| 609 | TPM2 Tropomyosin 2 (beta) | 9p13 | | Arthrogryposis, distal, type 1A - DA1A (3.4, 3.42, 16.9, 16.15)
| | arthrogryposis, distal, type 2B - DA2B (3.4, 3.42, 16.9, 16.15)
| | Cap myopathy, TPM2-related, included - (3.4, 3.42, 16.9, 16.15)
| | Nemaline myopathy 4 - NEM4 (3.4, 3.42, 16.9, 16.15)
|
|
| 610 | TPM3 Tropomyosin 3 | 1q21.2 | | Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.17, 3.41)
|
|
| 611 | TPP1 Tripeptidyl peptidase I | 11p15.4 | | Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.63)
|
|
| 612 | TRAPPC11 Trafficking protein particle complex 11 | 4q35.1 | | Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.48, 2.43)
| | Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.48, 2.43)
|
|
| 613 | TRDN Triadin | 6q22.31 | | CPVT5 - Ventricular tachycar (10.128)
|
|
| 614 | TRIM2 Tripartite motif containing 2 | 4q31.3 | | Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.88)
|
|
| 615 | TRIM32 Tripartite motif-containing 32 | 9q33.2 | | Sarcotubular myopathy - (1.38, 3.48)
| | Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.38, 3.48)
|
|
| 616 | TRIM54 Tripartite motif-containing 54 | 2p.23.3 | | Cardiac and skeletal aggregate myopathy - (5.14)
|
|
| 617 | TRIM63 Tripartite motif containing 63, E3 ubiquitin protein ligase | 1p36.11 | | Cardiac and skeletal aggregate myopathy - (5.14)
|
|
| 618 | TRIP4 Thyroid hormone receptor interactor 4 | 15q22.31 | | Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.50, 12.11)
| | Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.50, 12.11)
|
|
| 619 | TRPC3 Transient receptor potential cation channel subfamily C member 3 | 4q27 | | Spinocerebellar ataxia 41 - SCA41 (13.36)
|
|
| 620 | TRPV4 Transient receptor potential cation channel, subfamily V, member 4 | 12q23-q24 | | Scapuloperoneal spinal muscular atrophy - SPSMA (12.28, 12.32, 14.50)
| | Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.28, 12.32, 14.50)
| | Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.28, 12.32, 14.50)
| | Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.28, 12.32, 14.50)
|
|
| 621 | TSFM Ts translation elongation factor, mitochondrial(M) | 12q14.1 | | Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.32)
|
|
| 622 | TTBK2 Tau tubulin kinase 2 | 15q15.2 | | Spinocerebellar ataxia 11 - SCA11 (13.10)
|
|
| 623 | TTN Titin | 2q31 | | Hereditary myopathy with early respiratory failure - HMERF (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Congenital myopathy with fatal cardiomyopathy - (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Cardiomyopathy, dilated, 1G - CMD1G (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Centronuclear myopathy related to TTN - (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | LGMDR10 (Formerly LGMD2J) - (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Lethal Congenital Contracture Syndrome related to TTN - (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Tibial muscular dystrophy, tardive - TMD (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
| | Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.40, 3.28, 3.33, 3.45, 4.4, 5.10, 10.8, 10.44, 12.92)
|
|
| 624 | TTPA Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) | 8q13.1-q13.3 | | Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.56)
| | Ataxia with isolated vitamin E deficiency - TTPA (13.56)
|
|
| 625 | TTR Transthyretin (prealbumin, amyloidosis type I) | 18q12.1 | | Familial amyloid neuropathy - (16.4)
|
|
| 626 | TUBA4A Tubulin, Alpha-4A | 2q35 | | Amyotrophic lateral sclerosis 22 - ALS22 (12.68)
|
|
| 627 | TUBB3 Tubulin, beta 3 | 16q24.3 | | Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
|
|
| 628 | TWNK Twinkle mtDNA helicase | 10q23.-q24.1 | | Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.57, 16.35)
| | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.57, 16.35)
|
|
| 629 | TYMP Thymidine phosphorylase | 22q13.33 | | Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.44)
|
|
| 630 | UBA1 Ubiquitin-activating enzyme 1 | Xp11.23 | | Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.43)
| | Spinal muscular atrophy, distal, X-linked, 2 - (12.43)
|
|
| 631 | UBA5 Ubiquitin-Like Modifier Activating Enzyme 5 | 3q22.1 | | Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.80)
|
|
| 632 | UBAP1 Ubiquitin-associated protein 1 | 9p13.3 | | Spastic paraplegia 80, autosomal dominant - SPG80 (15.21)
|
|
| 633 | UBQLN2 Ubiquilin 2 | Xp11.21 | | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.61)
|
|
| 634 | UCHL1 Ubiquitin Carboxyl-Terminal Esterase L1 | 4p13 | | Spastic paraplegia 79, autosomal recessive - SPG79 (15.67)
|
|
| 635 | UNC13A Unc-13 homolog A (C. elegans) | 19p13.11 | | Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.39)
|
|
| 636 | UNC45B UNC45 Myosin Chaperone B | 17q12 | | Myofibrillar myopathy 11 - MFM11 (5.12)
|
|
| 637 | VAMP1 Vesicle associated membrane protein (synaptobrevin 1)(M) | 12p13 | | ataxia, spastic, 1, autosomal dominant - SPAX1 (11.33, 15.76)
| | Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.33, 15.76)
|
|
| 638 | VAPB Vesicle-associated membrane protein-associated protein B and C | 7p15 | | Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.37, 12.54)
| | Amyotrophic lateral sclerosis - ALS8 (12.37, 12.54)
|
|
| 639 | VCL Vinculin | 10q22.1-q23 | | Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.60)
| | Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.60)
|
|
| 640 | VCP Valosin-containing protein | 9p13-p12 | | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 (1.64, 4.23, 5.34, 12.60, 14.66)
| | Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.64, 4.23, 5.34, 12.60, 14.66)
| | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.64, 4.23, 5.34, 12.60, 14.66)
| | Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.64, 4.23, 5.34, 12.60, 14.66)
| | Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.64, 4.23, 5.34, 12.60, 14.66)
|
|
| 641 | VMA21 VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae) | Xq28 | | Myopathy, X-linked, with excessive autophagy - XMEA (5.18)
|
|
| 642 | VPS13D Vacuolar protein sorting 37, Yeast, homolg of, A | 1p36.22-p36.21 | | Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 (13.60)
|
|
| 643 | VPS37A Vacuolar protein sorting-associated protein 37A | 8p22 | | Spastic paraplegia 53, autosomal recessive - SPG53 (15.52)
|
|
| 644 | VPS41 VPS41 Subunit of Hops Complex | 7p14.1 | | Spinocerebellar ataxia - SCAR29 (13.85)
|
|
| 645 | VRK1 Vaccinia related kinase 1 | 14q32 | | Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.94, 14.129)
| | Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.94, 14.129)
| | Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.10, 12.94, 14.129)
|
|
| 646 | VWA1 Von Willebrand factor A domain-containing protein 1 | 1p36.33 | | Neuropathy, hereditary motor, with myopathic features - HMNMYO (12.104)
|
|
| 647 | VWA3B Von Willebrand factor A domain Containing Protein 3B | 2q11.2 | | Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.78)
|
|
| 648 | WARS Tryptophanyl-tRNA synthetase | 14q32.2 | | Neuronopathy, distal hereditary motor, type IX - HMN9 (12.29)
|
|
| 649 | WDR73 WD Repeat-Containing Protein 73 | 15q24-q26 | | Galloway-Mowat syndrome 1 - GAMOS1 (13.61)
|
|
| 650 | WNK1 WNK lysine deficient protein kinase 1 | 12p.13 | | neuropathy, hereditary sensory and autonomic, type iia - HSAN2 (14.103)
|
|
| 651 | WWOX WW Domain-Containing Oxidoreductase(M) | 16q23.1-q23.2 | | Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.68)
|
|
| 652 | XRCC1 W-Ray Repair, Complementing Defective, In Chinese Hamster, 1 | 19q13.31 | | Spinocerebellar ataxia, autosomal recessive 26 - SCAR26 (13.82)
|
|
| 653 | YARS Tyrosyl-tRNA synthetase | 1p35.1 | | Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.16)
|
|
| 654 | YARS2 Tyrosyl-tRNA synthetase 2, mitochondrial(M) | 12p11.21 | | Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.61)
|
|
| 655 | ZBTB42 Zinc finger and BTB domain-containing protein 42 | 14q32.33 | | Lethal Congenital Contracture Syndrome 6 - LCCS6 (12.86)
|
|
| 656 | ZFHX2 Zinc finger homeobox 2 | 14q11.2 | | Marssili syndrome (insensitivity to pain, congenital, AD) - MARSIS (14.118)
|
|
| 657 | ZFYVE26 Spastizin | 14q24.1 | | Spastic paraplegia 15 - SPG15 (15.28)
|
|
| 658 | ZFYVE27 Zinc finger, FYVE domain containing 27 | 10q24.2 | | Spastic paraplegia 33 - SPG33 (15.13)
|
|
