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 (10.112)
Abhydrolase domain containing 5
ABHD5 (3p25.3-p24.3)


* Chanarin-Dorfman syndrome - CDS (9.24)
Acetylcholinesterase collagen-like tail subunit
COLQ (3p25)


* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.13)
Acid alpha-glucosidase preproprotein
GAA (17q25.2-q25.3)


* Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.42, 9.1, 10.74)
* Glycogen storage disease II - GSDII (1.42, 9.1, 10.74)
Actin-filament binding protein Frabin
FGD4 (12p11.21)


* Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.27)
Actin, alpha, cardiac muscle precursor
ACTC1 (15q11-q14)


* Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.47)
* Asymmetric septal hypertrophy - ASH (10.10, 10.47)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.47)
Actinin alpha2
ACTN2 (1q42-q43)

* Hypertrophic cardiomyopathy related to actinin-2 - (10.22, 10.31)
* dilated cardiomyopathy, 1aa - CMD1AA (10.22, 10.31)
activating signal cointegrator 1 complex subunit 1
ASCC1 (10q22.1)


* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.35)
Activin A receptor, type II-like kinase 2
ACVR1 (2q23-q24)


* Fibrodysplasia ossificans progressiva - FOP (5.19)
acyl-CoA dehydrogenase family member 9(M)
ACAD9 (3q21.3)


* ACAD9-deficient mild myopathy - (9.23)
Acyl-Coenzyme A dehydrogenase, very long chain(M)
ACADVL (17p13)


* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.22)
adaptor-related protein complex 4, beta 1 subunit
AP4B1 (1p13.2)


* Spastic paraplegia 47, autosomal recessive - SPG47 (15.42)
Adaptor-related protein complex 4, mu 1 subunit
AP4M1 (7q22.1)


* Spastic paraplegia 50, autosomal recessive - SPG50 (15.45)
adaptor-related protein complex 4, sigma 1 subunit
AP4S1 (14q12)


* Spastic paraplegia 52, autosomal recessive - SPG52 (15.47)
(M)
C12orf65 (12q24.31)


* Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)
Adaptor-related protein complex 5, zeta 1 subunit
AP4E1 (15q21.2)


* Spastic paraplegia 51, autosomal recessive - SPG51 (15.46)
adenosine monophosphate deaminase 2
AMPD2 (1p13.3)


* Spastic paraplegia 63, autosomal recessive - SPG63 (15.55)
Adénylosuccinate synthase-like
ADSSL1 (14q32-33)


* Adolescent onset distal myopathy - (4.18)
Adipose triglyceride lipase (desnutrin)
PNPLA2 (1p15.5)


* Neutral lipid storage disease without ichthyosis - NLSDM (9.25)
ADP-ribosylation factor-like 6 interacting protein 1
ARL6IP1 (16p12.3)


* Spastic paraplegia 61, autosomal recessive - SPG61 (15.53)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
AFG3L2 (18p11-q11)


* Spinocerebellar ataxia 28 - SCA28 (13.26, 15.71)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.71)
Agrin
AGRN (1p36.33)


* Familial limb girdle myasthenia related to agrin - CMS1B (11.16)
Alanyl-tRNA synthetase
AARS (16q22.1)


* Dominant distal hereditary motor neuropathy - (12.13, 14.53)
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.13, 14.53)
Alanyl-tRNA synthetase 2, mitochondrial(M)
AARS2 (6p21.1)


* Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.25)
Aldehyde dehydrogenase 3A2
ALDH3A2 (17p11.2)


* 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
COL6A1 (21q22.3)


* Bethlem myopathy - (2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD (2.2, 2.6)
Alpha 2 type VI collagen
COL6A2 (21q22.3)


* 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
COL6A3 (2q37)


* Bethlem myopathy - (2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD (2.4, 2.8)
Alpha actin, skeletal muscle
ACTA1 (1q42.1)


* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.44, 3.3, 3.11, 3.38)
* Nemaline myopathy 3 - NEM3 (2.44, 3.3, 3.11, 3.38)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.44, 3.3, 3.11, 3.38)
Alpha sarcoglycan
SGCA (17q21)


* Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.24)
Alpha-1,3/1,6-mannosyltransferase
ALG2 (9q31.1)


* Congenital myasthenic syndrome related to ALG2 - (11.23)
Alsin
ALS2 (2q33.2)


* Amyotrophic lateral sclerosis, juvenile - ALS2 (12.38, 15.62)
* Primary lateral sclerosis, juvenile - PLSJ (12.38, 15.62)
* Spastic paralysis, infantile onset ascending - IAHSP (12.38, 15.62)
Amphiphysin
BIN1 (2q14)


* Centronuclear myopathy, related to BIN1, dominant - (3.18, 3.19)
* Centronuclear myopathy, related to BIN1, recessive - (3.18, 3.19)
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 (12.65)
* Kennedy disease - KD (12.65)
Angiogenin
ANG (14q11.2)


* amyotrophic lateral sclerosis 9 - ALS9 (12.47)
Ankyrin 2
ANK2 (4q25-q27)


* Long QT syndrome-4 - LQT4 (10.105)
Ankyrin repeat domain 1 (cardiac muscle)
ANKRD1 (10q23.33)


* Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.21, 10.63)
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.21, 10.63)
Anoctamin 5
ANO5 (11p14-12)


* Early onset calf distal myopathy - (1.32, 4.13)
* Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.32, 4.13)
Apoptosis-inducing factor, mitochondrionassociated 1(M)
AIFM1 (Xq24-q26.1)


* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.33)
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.33)
* Cowchock syndrome - NAMSD (14.33)
Aprataxin
APTX (9p13.3)


* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.50)
Ataxia telangiectasia mutated
ATM (11q22.3)


* ataxia telangiectasia - AT (13.63)
Ataxin 1
ATXN1 (6p23)


* 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 (12q24.1)


* 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
ATXN3 (14q24.3-q32.2)


* Machado-Joseph disease - MJD (13.3)
* Spinocerebellar ataxia 3 - SCA3 (13.3)
Ataxin 7
ATXN7 (3p21.1-p12)


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


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


* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.79, 15.1)
* Neuropathy, hereditary sensory, type ID - HSN1D (14.79, 15.1)
atlastin GTPase 3
ATL3 (11q13.1)


* Hereditary sensory neuropathy type IF - HSN IF (14.80)
ATP-binding cassette, sub-family C (member 9)
ABCC9 (16p13.1)


* Cardiomyopathy, dilated, 1O - CMD1O (10.44)
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 (12.21)
Atypical kinaseADCK3, mitochondrial(M)
ADCK3 (1q42.13)


* spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.58)