Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
A kinase (PRKA) anchor protein (yotiao) 9
AKAP9 (7q21.2)


* Long QT syndrome 11 - LQT11 (10.134)
Abhydrolase domain containing 5
ABHD5 (3p25.3-p24.3)


* Chanarin-Dorfman syndrome - CDS (9.26)
Acetylcholinesterase collagen-like tail subunit
COLQ (3p25)


* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
Acid alpha-glucosidase preproprotein
GAA (17q25.2-q25.3)


* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.59, 9.1, 10.90)
* Glycogen storage disease II - GSDII (1.59, 9.1, 10.90)
Actin-filament binding protein Frabin
FGD4 (12p11.21)


* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.31)
Actin, alpha, cardiac muscle precursor
ACTC1 (15q11-q14)


* Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.53, 10.95)
* Asymmetric septal hypertrophy - ASH (10.10, 10.53, 10.95)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.53, 10.95)
Actinin alpha2
ACTN2 (1q42-q43)

* Hypertrophic cardiomyopathy related to actinin-2 - (3.56, 4.25, 10.24, 10.62)
* Myopathy congenital related to ACTN2 - (3.56, 4.25, 10.24, 10.62)
* dilated cardiomyopathy, 1aa - CMD1AA (3.56, 4.25, 10.24, 10.62)
Activating signal cointegrator 1 complex subunit 1
ASCC1 (10q22.1)


* Arthrogryposis related to ASCC1 - (12.12, 16.24)
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24)
Activin A receptor, type II-like kinase 2
ACVR1 (2q23-q24)


* Fibrodysplasia ossificans progressiva - FOP (5.23)
Acyl-CoA dehydrogenase family member 9(M)
ACAD9 (3q21.3)


* ACAD9-deficient mild myopathy - (9.25)
Acyl-Coenzyme A dehydrogenase, very long chain(M)
ACADVL (17p13)


* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
adaptor-related protein complex 4, beta 1 subunit
AP4B1 (1p13.2)


* Spastic paraplegia 47, autosomal recessive - SPG47 (15.46)
Adaptor-related protein complex 4, epsilon-1 subunit
AP4E1 (15q21.2)


* Spastic paraplegia 51, autosomal recessive - SPG51 (15.50)
Adaptor-related protein complex 4, mu 1 subunit
AP4M1 (7q22.1)


* Spastic paraplegia 50, autosomal recessive - SPG50 (15.49)
Adaptor-related protein complex 4, sigma 1 subunit
AP4S1 (14q12)


* Spastic paraplegia 52, autosomal recessive - SPG52 (15.51)
Adenosine monophosphate deaminase 2
AMPD2 (1p13.3)


* Spastic paraplegia 63, autosomal recessive - SPG63 (15.59)
Adenylate cyclase 6
ADCY6 (12q13.12)


* Lethal Congenital Contracture Syndrome 8 - LCCS8 (12.85)
Adénylosuccinate synthase-like
ADSSL1 (14q32-33)


* Adolescent onset distal myopathy - (4.20)
Adhesion G protein-coupled recptor G6
ADGRG6 (6q24.2)


* Lethal Congenital Contracture Syndrome 9 - LCCS9 (12.86)
Adipose triglyceride lipase (desnutrin)
PNPLA2 (1p15.5)


* Neutral lipid storage disease without ichthyosis - NLSDM (9.27)
ADP-ribosylation factor-like 6 interacting protein 1
ARL6IP1 (16p12.3)


* Spastic paraplegia 61, autosomal recessive - SPG61 (15.57)
ADP-Ribosylhydrolase-Like 2
ADPRHL2 (1p34.3)


* Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS (12.105)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
AFG3L2 (18p11-q11)


* Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
Agrin
AGRN (1p36.33)


* Fetal akinesia deformation related to AGRN - (11.16, 16.31)
* Familial limb girdle myasthenia related to agrin - CMS1B (11.16, 16.31)
Ahnak nucleoprotein 2
AHNAK2 (14q32)


* Charcot-Marie Tooth disease - (14.34)
Alanyl-tRNA synthetase
AARS (16q22.1)


* Dominant distal hereditary motor neuropathy - (12.24, 14.58)
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.24, 14.58)
Alanyl-tRNA synthetase 2, mitochondrial(M)
AARS2 (6p21.1)


* Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
Aldehyde dehydrogenase 3A2
ALDH3A2 (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)
Aldehyde deydrogenase 18 family, member A1 (M)
ALDH18A1 (10q24.1)


* Spastic paraplegia 9 - SPG9A (15.5, 15.25)
* Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
Alpha 1 type VI collagen
COL6A1 (21q22.3)


* Bethlem myopathy - (1.22, 1.51, 2.2, 2.6)
* LGMDD5 - (1.22, 1.51, 2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD1 (1.22, 1.51, 2.2, 2.6)
* LGMDR22 - (1.22, 1.51, 2.2, 2.6)
Alpha 2 type VI collagen
COL6A2 (21q22.3)


* Bethlem myopathy - (1.23, 1.52, 2.5, 2.7, 2.12)
* LGMDD5 - (1.23, 1.52, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD1 (1.23, 1.52, 2.5, 2.7, 2.12)
* LGMDR22 - (1.23, 1.52, 2.5, 2.7, 2.12)
* myosclerosis, autosomal recessive - (1.23, 1.52, 2.5, 2.7, 2.12)
Alpha 3 type VI collagen
COL6A3 (2q37)


* Bethlem myopathy - (1.24, 1.53, 2.4, 2.8)
* LGMDD5 - (1.24, 1.53, 2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD1 (1.24, 1.53, 2.4, 2.8)
* LGMDR22 - (1.24, 1.53, 2.4, 2.8)
Alpha actin, skeletal muscle
ACTA1 (1q42.1)


* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.48, 3.3, 3.15, 3.43)
* Nemaline myopathy 3 - NEM3 (2.48, 3.3, 3.15, 3.43)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.48, 3.3, 3.15, 3.43)
* Left ventricular noncompaction 4 - LVNC4 (2.48, 3.3, 3.15, 3.43)
Alpha kinase 3
ALPK3 (15q25.3)


* Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.28)
Alpha sarcoglycan
SGCA (17q21)


* Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.32)
Alpha-1,3/1,6-mannosyltransferase
ALG2 (9q31.1)


* Congenital myasthenic syndrome related to ALG2 - (11.22)
Alsin Rho guanine nucleotide exchange factor 2
ALS2 (2q33.2)


* Amyotrophic lateral sclerosis, juvenile - ALS2 (12.45, 15.69)
* Primary lateral sclerosis, juvenile - PLSJ (12.45, 15.69)
* Spastic paralysis, infantile onset ascending - IAHSP (12.45, 15.69)
Amphiphysin
BIN1 (2q14)


* Centronuclear myopathy 2 - CNM2 (3.24)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
AGL (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)
Androgen receptor
AR (Xq11.2-q12)


* Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.40)
* Kennedy disease - KD (12.40)
Angiogenin
ANG (14q11.2)


* amyotrophic lateral sclerosis 9 - ALS9 (12.52)
Ankyrin 2
ANK2 (4q25-26)


* Long QT syndrome-4 - LQT4 (10.126)
Ankyrin repeat domain 1 (cardiac muscle)
ANKRD1 (10q23.31)


* Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.77)
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.77)
Annexin A11
ANXA11 (10q23.3)


* Multisystem proteinopathy - (12.102, 12.66)
* Amytrophic lateral sclerosis 23 - ALS23 (12.102, 12.66)
Anoctamin 10
ANO10 (3p22.1-p21.3)


* Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.65)
Anoctamin 5
ANO5 (11p14-12)


* Muscular dystrophy with gnathodiaphyseal dysplasia - (1.16, 1.41, 4.15)
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.16, 1.41, 4.15)
* Miyoshi muscular dystrophy 3 - MMD3 (1.16, 1.41, 4.15)
Apolipoprotein O(M)
APOO (Xp22.11)


* Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.81)
Apoptosis-inducing factor, Mitochondria-associated 1(M)
AIFM1 (Xq24-q26.1)


* Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.100, 14.39, 16.64)
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.100, 14.39, 16.64)
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.100, 14.39, 16.64)
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
Aprataxin
APTX (9p13.3)


* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.57)
Asparaginyl-tRNA Synthetase 1
NARS1 (18q21.31)


* Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.130)
Ataxia telangiectasia mutated
ATM (11q22.3)


* ataxia telangiectasia - AT (13.91)
Ataxin 1
ATXN1 (6p22.3)


* Spinocerebellar ataxia 1 - SCA1 (13.1)
* Olivopontocerebellar atrophy I - OPCA1 (13.1)
Ataxin 10
ATXN10 (22q13.31)


* Spinocerebellar ataxia 10 - SCA10 (13.9)
Ataxin 2
ATXN2 (12q24.12)


* Spinocerebellar ataxia 2 - SCA2 (12.56, 13.2)
* Olivopontocerebellar atrophy II - OPCA (12.56, 13.2)
* Amyotrophic lateral sclerosis 13 - ALS13 (12.56, 13.2)
Ataxin 3
ATXN3 (14q32.12)


* Machado-Joseph disease - MJD (13.3)
* Spinocerebellar ataxia 3 - SCA3 (13.3)
Ataxin 7
ATXN7 (3p14)


* Spinocerebellar ataxia 7 - SCA7 (13.7)
* Olivopontocerebellar atrophy III - OPCA3 (13.7)
Ataxin 8 opposite strand
ATXN8OS (13q21.33)


* Spinocerebellar ataxia 8 - SCA8 (13.8)
Atlastin GTPase 1
ATL1 (14q22.1)


* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.109, 15.1)
* Neuropathy, hereditary sensory, type ID - HSN1D (14.109, 15.1)
atlastin GTPase 3
ATL3 (11q13.1)


* Hereditary sensory neuropathy type IF - HSN IF (14.111)
ATP-binding cassette, sub-family C (member 9)
ABCC9 (16p13.1)


* Cardiomyopathy, dilated, 1O - CMD1O (10.157, 10.50)
* Atrial fibrillation , 12 - ATFB12 (10.157, 10.50)
ATPase, Ca++ transporting, fast twitch 1
ATP2A1 (16p12.1)


* Brody myopathy - ATP2A1 (6.9)
ATPase, Cu++ transporting, alpha polypeptide
ATP7A (Xq13-q21)


* Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.42)
ATPase, NA+/K+ transporting alpha-2 polypeptide
ATP1A2 (1q23.2)


* Hypokalaemic periodic paralysis - (7.5)
ATPase, Na+/K+ transporting, alpha-1 polypeptide
ATP1A1 (1p13.1)


* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.68)
ATPase, type 13A2(M)
ATP13A2 (1q36.13)


* Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
Autophagy 5, S. Cerevisiae, Homolog of
ATG5 (6q21)


* Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.80)
Autophagy-Related 7
ATG7 (3p25.3)

* Spinocerebellar ataxia - SCAR31 (13.85)