Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| A kinase (PRKA) anchor protein (yotiao) 9 | |  * Long QT syndrome 11 - LQT11 (10.114)
|
Abhydrolase domain containing 5 | | * Chanarin-Dorfman syndrome - CDS (9.25)
| Acetylcholinesterase collagen-like tail subunit | | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.11)
| Acid alpha-glucosidase preproprotein | | * Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.42, 9.1, 10.82)
* Glycogen storage disease II - GSDII (1.42, 9.1, 10.82)
| Actin-filament binding protein Frabin | | * Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.28)
| Actin, alpha, cardiac muscle precursor | | * Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.50)
* Asymmetric septal hypertrophy - ASH (10.10, 10.50)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.50)
| Actinin alpha2 | | * Hypertrophic cardiomyopathy related to actinin-2 - (10.24, 10.58)
* dilated cardiomyopathy, 1aa - CMD1AA (10.24, 10.58)
| activating signal cointegrator 1 complex subunit 1 | | * Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.11)
| Activin A receptor, type II-like kinase 2 | | * Fibrodysplasia ossificans progressiva - FOP (5.19)
| acyl-CoA dehydrogenase family member 9(M) | | * ACAD9-deficient mild myopathy - (9.24)
| Acyl-Coenzyme A dehydrogenase, very long chain(M) | | * Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.23)
| adaptor-related protein complex 4, beta 1 subunit | | * Spastic paraplegia 47, autosomal recessive - SPG47 (15.42)
| Adaptor-related protein complex 4, mu 1 subunit | | * Spastic paraplegia 50, autosomal recessive - SPG50 (15.45)
| adaptor-related protein complex 4, sigma 1 subunit | | * Spastic paraplegia 52, autosomal recessive - SPG52 (15.47)
| (M) | | * Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)
| Adaptor-related protein complex 5, zeta 1 subunit | | * Spastic paraplegia 51, autosomal recessive - SPG51 (15.46)
| adenosine monophosphate deaminase 2 | | * Spastic paraplegia 63, autosomal recessive - SPG63 (15.55)
| Adénylosuccinate synthase-like | | * Adolescent onset distal myopathy - (4.18)
| Adipose triglyceride lipase (desnutrin) | | * Neutral lipid storage disease without ichthyosis - NLSDM (9.26)
| ADP-ribosylation factor-like 6 interacting protein 1 | | * Spastic paraplegia 61, autosomal recessive - SPG61 (15.53)
| AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M) | | * Spinocerebellar ataxia 28 - SCA28 (13.26, 15.71)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.71)
| Agrin | | * Familial limb girdle myasthenia related to agrin - CMS1B (11.14)
| Alanyl-tRNA synthetase | | * Dominant distal hereditary motor neuropathy - (12.22, 14.54)
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.22, 14.54)
| Alanyl-tRNA synthetase 2, mitochondrial(M) | | * Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.29)
| Aldehyde dehydrogenase 3A2 | | * Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.61)
* Fatty aldehyde dehydrogenase - FALDH (15.61)
* Sjogren-Larsson syndrome - SLS (15.61)
| Alpha 1 type VI collagen | | * Bethlem myopathy - (2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD (2.2, 2.6)
| Alpha 2 type VI collagen | | * Bethlem myopathy - (2.3, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD (2.3, 2.5, 2.7, 2.12)
* myosclerosis, autosomal recessive - (2.3, 2.5, 2.7, 2.12)
| Alpha 3 type VI collagen | | * Bethlem myopathy - (2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD (2.4, 2.8)
| Alpha actin, skeletal muscle | | * Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.45, 3.3, 3.12, 3.39)
* Nemaline myopathy 3 - NEM3 (2.45, 3.3, 3.12, 3.39)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.45, 3.3, 3.12, 3.39)
| Alpha sarcoglycan | | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.24)
| Alpha-1,3/1,6-mannosyltransferase | | * Congenital myasthenic syndrome related to ALG2 - (11.20)
| Alsin | | * Amyotrophic lateral sclerosis, juvenile - ALS2 (12.39, 15.62)
* Primary lateral sclerosis, juvenile - PLSJ (12.39, 15.62)
* Spastic paralysis, infantile onset ascending - IAHSP (12.39, 15.62)
| Amphiphysin | | * Centronuclear myopathy, related to BIN1, dominant - (3.19, 3.20)
* Centronuclear myopathy, related to BIN1, recessive - (3.19, 3.20)
| Amylo-1,6-glucosidase, 4-alpha-glucanotransferase | | * 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)
| Androgen receptor | | * Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.67)
* Kennedy disease - KD (12.67)
| Angiogenin | | * amyotrophic lateral sclerosis 9 - ALS9 (12.47)
| Ankyrin 2 | | * Long QT syndrome-4 - LQT4 (10.107)
| Ankyrin repeat domain 1 (cardiac muscle) | | * Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.72)
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.72)
| Anoctamin 5 | | * Early onset calf distal myopathy - (1.32, 4.13)
* Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.32, 4.13)
| Apoptosis-inducing factor, Mitochondria-associated 1(M) | | * Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (14.34, 16.34)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.34, 16.34)
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.34, 16.34)
* Cowchock syndrome - NAMSD (14.34, 16.34)
| Aprataxin | | * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.50)
| Ataxia telangiectasia mutated | | * ataxia telangiectasia - AT (13.63)
| Ataxin 1 | | * Spinocerebellar ataxia 1 - SCA1 (13.1)
* Olivopontocerebellar atrophy I - OPCA1 (13.1)
| Ataxin 10 | | * Spinocerebellar ataxia 10 - SCA10 (13.9)
| Ataxin 2 | | * Spinocerebellar ataxia 2 - SCA2 (12.51, 13.2)
* Olivopontocerebellar atrophy II - OPCA (12.51, 13.2)
* Amyotrophic lateral sclerosis 13 - ALS13 (12.51, 13.2)
| Ataxin 3 | | * Machado-Joseph disease - MJD (13.3)
* Spinocerebellar ataxia 3 - SCA3 (13.3)
| Ataxin 7 | | * Spinocerebellar ataxia 7 - SCA7 (13.7)
* Olivopontocerebellar atrophy III - OPCA3 (13.7)
| Ataxin 8 opposite strand | | * Spinocerebellar ataxia 8 - SCA8 (13.8)
| Atlastin GTPase 1 | | * Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.84, 15.1)
* Neuropathy, hereditary sensory, type ID - HSN1D (14.84, 15.1)
| atlastin GTPase 3 | | * Hereditary sensory neuropathy type IF - HSN IF (14.85)
| ATP-binding cassette, sub-family C (member 9) | | * Cardiomyopathy, dilated, 1O - CMD1O (10.47)
| ATPase, Ca++ transporting, fast twitch 1 | | * Brody myopathy - ATP2A1 (6.9)
| ATPase, Cu++ transporting, alpha polypeptide | | * Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.36)
| Atypical kinaseADCK3, mitochondrial(M) | | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.58)
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