Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| abhydrolase domain containing 5 | |  * Chanarin-Dorfman syndrome - CDS (9.22)
|
acetyl-Coenzyme A transporter | | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
| | | * Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
| acetylcholinesterase collagen-like tail subunit | | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.13)
| acid alpha-glucosidase preproprotein | | * Glycogen storage disease II - GSDII (9.1, 10.68)
| actin, alpha, cardiac muscle precursor | | * Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.44)
* Asymmetric septal hypertrophy - ASH (10.10, 10.44)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.44)
| actin-filament binding protein Frabin | | * Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.24)
| actinin alpha2 | | * Hypertrophic cardiomyopathy with actinin-2 defect - (10.23, 10.27)
* dilated cardiomyopathy, 1aa - CMD1AA (10.23, 10.27)
| activin A receptor, type II-like kinase 2 | | * Fibrodysplasia ossificans progressiva - FOP (5.16)
| acyl-Coenzyme A dehydrogenase, very long chain | | * Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.21)
| adipose triglyceride lipase (desnutrin) | | * Neutral lipid storage disease without ichthyosis - NLSDM (9.23)
| Agrin | | * Myasthenia, limb-girdle, familial - LGM (11.17)
| alanyl-tRNA synthetase | | * Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (14.48)
| aldehyde dehydrogenase 3A2 | | * Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.41)
* Fatty aldehyde dehydrogenase - FALDH (15.41)
* Sjogren-Larsson syndrome - SLS (15.41)
| alpha 1 type VI collagen | | * Bethlem myopathy - (2.16, 2.19)
* Ullrich congenital muscular dystrophy - UCMD (2.16, 2.19)
| alpha 2 type VI collagen | | * Bethlem myopathy - (2.17, 2.20, 2.22, 2.23)
* Ullrich scleroatonic muscular dystrophy - UCMD (2.17, 2.20, 2.22, 2.23)
* myosclerosis, autosomal recessive - (2.17, 2.20, 2.22, 2.23)
| alpha 3 type VI collagen | | * Bethlem myopathy - (2.18, 2.21)
* Ullrich congenital muscular dystrophy - UCMD (2.18, 2.21)
| alpha actin, skeletal muscle | | * Nemaline myopathy 3 - NEM3 (3.3, 3.9, 3.29)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.3, 3.9, 3.29)
| alpha sarcoglycan | | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.22)
| alsin | | * Amyotrophic lateral sclerosis, juvenile - ALS2 (12.23, 15.42)
* Primary lateral sclerosis, juvenile - PLSJ (12.23, 15.42)
* Spastic paralysis, infantile onset ascending - IAHSP (12.23, 15.42)
| amphiphysin | | * centronuclear myopathy, recessive - (3.16)
| 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 | | * Prostate cancer - AR (12.32)
* Androgen insensitivity - AIS (12.32)
* Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.32)
* Breast cancer, male, with Reifenstein syndrome - DHTR (12.32)
* Perineal hypospadias - DHTR (12.32)
| angiogenin | | * amyotrophic lateral sclerosis 9 - ALS9 (12.30)
| ankyrin 2 | | * Long QT syndrome-4 - LQT4 (10.90)
| ankyrin repeat domain 1 (cardiac muscle) | | * Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect - (10.22, 10.60)
* Dilated cardiomyopathy with cardiac ankyrin repeat protein defect - (10.22, 10.60)
| anoctamin 5 | | * Early onset calf distal myopathy - (1.30, 4.13)
* Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.30, 4.13)
| aprataxin | | * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.40)
| ataxia telangiectasia mutated | | * ataxia telangiectasia - AT (13.52)
| 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 (13.2)
* Olivopontocerebellar atrophy II - OPCA (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 | | * Spastic paraplegia 3A - SPG3A (15.1)
* Familial spastic paraplegia, autosomal dominant, 1 - FSP1 (15.1)
| atlastin GTPase 1 | | * Neuropathy, hereditary sensory, type ID - HSN1D (14.56)
| ATP-binding cassette, sub-family C (member 9) | | * Cardiomyopathy, dilated, 1O - CMD1O (10.41)
| ATPase, Ca++ transporting, fast twitch 1 | | * Brody myopathy - ATP2A1 (6.9)
| ATPase, Cu++ transporting, alpha polypeptide | | * Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.18)
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