Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15 | |  * Arthrogryposis, distal type 12 - DA12 (16.22)
|
A kinase (PRKA) anchor protein (yotiao) 9 | | * Long QT syndrome 11 - LQT11 (10.146)
| Abhydrolase domain containing 5 | | * Chanarin-Dorfman syndrome - CDS (9.26)
| Abhydrolase domain-containing protein 16a, phospholipase | | * Spastic paraplegia 86, autosomal recessive - SPG86 (15.78)
| Acetylcholinesterase collagen-like tail subunit | | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
* Myasthenic syndrome, congenital, 5 - CMS5 (11.12)
| Acid alpha-glucosidase preproprotein | | * Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (9.1, 10.102)
* Glycogen storage disease II - GSDII (9.1, 10.102, 10.102)
| Actin-filament binding protein Frabin | | * Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.38)
| Actin, alpha, cardiac muscle precursor | | * Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.107, 10.56)
* Asymmetric septal hypertrophy - ASH (10.10, 10.107, 10.56)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.107, 10.56)
| Actinin alpha2 | | * Hypertrophic cardiomyopathy related to actinin-2 - (3.34, 4.10, 10.25, 10.65)
* dilated cardiomyopathy, 1aa - CMD1AA (3.34, 4.10, 10.25, 10.65)
* Congenital myopathy 8 - CMYP8 (3.34, 4.10, 10.25, 10.65)
* Myopathy, distal 6, Adult-onset - MPD6 (3.34, 4.10, 10.25, 10.65)
| Activating signal cointegrator 1 complex subunit 1 | | * Arthrogryposis related to ASCC1 - (12.6, 16.25)
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.6, 16.25)
| Activin A receptor, type II-like kinase 2 | | * Fibrodysplasia ossificans progressiva - FOP (5.29)
| Acyl-CoA dehydrogenase family member 9(M) | | * Mitochondrial complex 1 deficiency, nuclear type 20 - MC1DN20 (9.25)
| Acyl-Coenzyme A dehydrogenase, very long chain(M) | | * Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
| adaptor-related protein complex 4, beta 1 subunit | | * Spastic paraplegia 47, autosomal recessive - SPG47 (15.50)
| Adaptor-related protein complex 4, epsilon-1 subunit | | * Spastic paraplegia 51, autosomal recessive - SPG51 (15.54)
| Adaptor-related protein complex 4, mu 1 subunit | | * Spastic paraplegia 50, autosomal recessive - SPG50 (15.53)
| Adaptor-related protein complex 4, sigma 1 subunit | | * Spastic paraplegia 52, autosomal recessive - SPG52 (15.55)
| Adenosine monophosphate deaminase 2 | | * Spastic paraplegia 63, autosomal recessive - SPG63 (15.63)
| Adenylate cyclase 6 | | * Lethal Congenital Contracture Syndrome 8 - LCCS8 (12.94)
| Adénylosuccinate synthase-like | | * Myopathy, distal, 5 - MPD5 (4.9)
| Adhesion G protein-coupled recptor G6 | | * Lethal Congenital Contracture Syndrome 9 - LCCS9 (12.95)
| Adipose triglyceride lipase (desnutrin) | | * Neutral lipid storage disease without ichthyosis - NLSDM (9.27)
| ADP-ribosylation factor-like 6 interacting protein 1 | | * Spastic paraplegia 61, autosomal recessive - SPG61 (15.61)
| ADP-Ribosylhydrolase-Like 2 | | * Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS (12.112)
| AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M) | | * Spinocerebellar ataxia 28 - SCA28 (13.26, 15.92)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.92)
| Agrin | | * Fetal akinesia deformation related to AGRN - (11.16, 16.32)
* Familial limb girdle myasthenia related to agrin - CMS1B (11.16, 16.32)
| Ahnak nucleoprotein 2 | | * Charcot-Marie Tooth disease - (14.41)
| Alanyl-tRNA synthetase | | * Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.38, 14.66)
| Alanyl-tRNA synthetase 2, mitochondrial(M) | | * Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.34)
| Aldehyde dehydrogenase 3A2 | | * Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.80)
* Fatty aldehyde dehydrogenase - FALDH (15.80)
* Sjogren-Larsson syndrome - SLS (15.80)
| Aldehyde deydrogenase 18 family, member A1 (M) | | * Spastic paraplegia 9 - SPG9A (15.5, 15.29)
* Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.29)
| Alpha 1 type VI collagen | | * Bethlem myopathy - (1.20, 1.38, 2.2, 2.6)
* LGMDD5 - (1.20, 1.38, 2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD1 (1.20, 1.38, 2.2, 2.6)
* LGMDR22 - (1.20, 1.38, 2.2, 2.6)
| Alpha 2 type VI collagen | | * Bethlem myopathy - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
* LGMDD5 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD1 (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
* LGMDR22 - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
* myosclerosis, autosomal recessive - (1.21, 1.39, 2.3, 2.4, 2.5, 2.7, 2.12)
| Alpha 3 type VI collagen | | * Bethlem myopathy - (1.22, 1.40, 2.4, 2.8)
* LGMDD5 - (1.22, 1.40, 2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD1 (1.22, 1.40, 2.4, 2.8)
* LGMDR22 - (1.22, 1.40, 2.4, 2.8)
| Alpha actin, skeletal muscle | | * Congenital myopathy 2A, typical - CMYP2A (3.1, 3.2, 3.3, 3.52)
* Nemaline myopathy 3 - NEM3 (3.1, 3.2, 3.2, 3.3, 3.52)
* Congenital myopathy 2B, severe infantile - CMYP2B (3.1, 3.2, 3.2, 3.3, 3.52)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.1, 3.2, 3.2, 3.3, 3.52)
* Left ventricular noncompaction 4 - LVNC4 (3.1, 3.2, 3.2, 3.3, 3.52)
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C (3.1, 3.2, 3.2, 3.3, 3.52)
| Alpha kinase 3 | | * Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.29)
| Alpha sarcoglycan | | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.27)
| Alpha-1,3/1,6-mannosyltransferase | | * Myasthenic syndrome, congenital, 14, with tubular aggregates - CMS14 (11.22)
| Alsin Rho guanine nucleotide exchange factor 2 | | * Amyotrophic lateral sclerosis, juvenile - ALS2 (12.53, 15.81)
* Primary lateral sclerosis, juvenile - PLSJ (12.53, 15.81)
* Spastic paralysis, infantile onset ascending - IAHSP (12.53, 15.81)
| Amphiphysin | | * Centronuclear myopathy 2 - CNM2 (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 (12.47)
* Kennedy disease - KD (12.47)
| Angiogenin | | * amyotrophic lateral sclerosis 9 - ALS9 (12.60)
| Ankyrin 2 | | * Long QT syndrome-4 - LQT4 (10.139)
| Ankyrin repeat domain 1 (cardiac muscle) | | * Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.81)
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.81)
| Annexin A11 | | * Amytrophic lateral sclerosis 23 - ALS23 (12.110, 12.74)
* Inclusion body myopathy and brain white matter abnormalities - IBMWMA (12.110, 12.74)
| Anoctamin 10 | | * Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.70)
| Anoctamin 5 | | * Muscular dystrophy with gnathodiaphyseal dysplasia - (1.14, 1.34, 4.3)
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.14, 1.34, 4.3)
* Miyoshi muscular dystrophy 3
- MMD3 (1.14, 1.34, 4.3)
| Apolipoprotein O(M) | | * Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.83)
| Apoptosis-inducing factor, Mitochondria-associated 1(M) | | * Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.108, 14.46, 16.65)
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.108, 14.46, 16.65)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.108, 14.46, 16.65)
* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.108, 14.46, 16.65)
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.108, 14.46, 16.65)
| Aprataxin | | * Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.61)
| Asparaginyl-tRNA Synthetase 1 | | * Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.139)
| Ataxia telangiectasia mutated | | * ataxia telangiectasia - AT (13.99)
| 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 (12.64, 13.2)
* Olivopontocerebellar atrophy II - OPCA (12.64, 13.2)
* Amyotrophic lateral sclerosis 13 - ALS13 (12.64, 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 (14.118, 15.1)
* Neuropathy, hereditary sensory, type ID - HSN1D (14.118, 15.1)
| atlastin GTPase 3 | | * Hereditary sensory neuropathy type IF - HSN IF (14.120)
| ATP-binding cassette, sub-family C (member 9) | | * Cardiomyopathy, dilated, 1O - CMD1O (10.169, 10.53)
* Atrial fibrillation , 12 - ATFB12 (10.169, 10.53)
| ATPase, Ca++ transporting, fast twitch 1 | | * Brody disease - BROD (6.9)
| ATPase, Cu++ transporting, alpha polypeptide | | * Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.49)
| ATPase, NA+/K+ transporting alpha-2 polypeptide | | * Hypokalaemic periodic paralysis - (7.5)
| ATPase, Na+/K+ transporting, alpha-1 polypeptide | | * Charcot-Marie-Tooth disease, type 1, related to ATP1A1 - (14.14, 14.76)
* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.14, 14.76)
| ATPase, type 13A2(M) | | * Spastic paraplegia 78, autosomal recessive - SPG78 (15.71)
| Autophagy 5, S. Cerevisiae, Homolog of | | * Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.85)
| Autophagy-Related 7 | | * Spinocerebellar ataxia - SCAR31 (13.91)
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