Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

AARS
Alanyl-tRNA synthetase



16q22.1
* Dominant distal hereditary motor neuropathy - (12.13, 14.53)
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.13, 14.53)

AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
* Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.25)

ABCC9
ATP-binding cassette, sub-family C (member 9)



16p13.1
* Cardiomyopathy, dilated, 1O - CMD1O (10.44)

ABHD5
Abhydrolase domain containing 5



3p25.3-p24.3
* Chanarin-Dorfman syndrome - CDS (9.24)

ACAD9
acyl-CoA dehydrogenase family member 9(M)



3q21.3
* ACAD9-deficient mild myopathy - (9.23)

ACADVL
Acyl-Coenzyme A dehydrogenase, very long chain(M)



17p13
* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.22)

ACTA1
Alpha actin, skeletal muscle



1q42.1
* myopathy, congenital, with fiber-type disproportion - CFTD (2.44, 3.3, 3.11, 3.38)
* 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)

ACTC1
Actin, alpha, cardiac muscle precursor



15q11-q14
* Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.47)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.47)
* Asymmetric septal hypertrophy - ASH (10.10, 10.47)

ACTN2
Actinin alpha2



1q42-q43
* Hypertrophic cardiomyopathy related to actinin-2 - (10.22, 10.31)
* dilated cardiomyopathy, 1aa - CMD1AA (10.22, 10.31)

ACVR1
Activin A receptor, type II-like kinase 2



2q23-q24
* Fibrodysplasia ossificans progressiva - FOP (5.19)

ADCK3
Atypical kinaseADCK3, mitochondrial(M)



1q42.13
* spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.58)

ADSSL1
Adénylosuccinate synthase-like



14q32-33
* Adolescent onset distal myopathy - (4.18)

AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



18p11-q11
* Spinocerebellar ataxia 28 - SCA28 (13.26, 15.71)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.71)

AGL
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



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)

AGRN
Agrin



1p36.33
* Familial limb girdle myasthenia related to agrin - CMS1B (11.16)

AIFM1
Apoptosis-inducing factor, mitochondrionassociated 1(M)



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)

AKAP9
A kinase (PRKA) anchor protein (yotiao) 9



7q21.2
* Long QT syndrome 11 - LQT11 (10.112)

ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase(M)



10q24.1
* Spastic paraplegia 9 - SPG9 (15.5, 15.21)
* Spastic paraplegia 9A, autosomal recessive - SPG9A (15.5, 15.21)

ALDH3A2
Aldehyde dehydrogenase 3A2



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)

ALG13
UDP-N-acetylglucosami-nyltransferase



Xq23
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S (2.36)

ALG14
UDP-N-acetylglucosaminyltransferase



1p21.3
* Congenital myasthenic syndrome related to ALG14 - (11.24)

ALG2
Alpha-1,3/1,6-mannosyltransferase



9q31.1
* Congenital myasthenic syndrome related to ALG2 - (11.23)

ALS2
Alsin



2q33.2
* Spastic paralysis, infantile onset ascending - IAHSP (12.38, 15.62)
* Amyotrophic lateral sclerosis, juvenile - ALS2 (12.38, 15.62)
* Primary lateral sclerosis, juvenile - PLSJ (12.38, 15.62)

AMPD2
adenosine monophosphate deaminase 2



1p13.3
* Spastic paraplegia 63, autosomal recessive - SPG63 (15.55)

ANG
Angiogenin



14q11.2
* amyotrophic lateral sclerosis 9 - ALS9 (12.47)

ANK2
Ankyrin 2



4q25-q27
* Long QT syndrome-4 - LQT4 (10.105)

ANKRD1
Ankyrin repeat domain 1 (cardiac muscle)



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)

ANO5
Anoctamin 5



11p14-12
* Early onset calf distal myopathy - (1.32, 4.13)
* Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.32, 4.13)

AP4B1
adaptor-related protein complex 4, beta 1 subunit



1p13.2
* Spastic paraplegia 47, autosomal recessive - SPG47 (15.42)

AP4E1
Adaptor-related protein complex 5, zeta 1 subunit



15q21.2
* Spastic paraplegia 51, autosomal recessive - SPG51 (15.46)

AP4M1
Adaptor-related protein complex 4, mu 1 subunit



7q22.1
* Spastic paraplegia 50, autosomal recessive - SPG50 (15.45)

AP4S1
adaptor-related protein complex 4, sigma 1 subunit



14q12
* Spastic paraplegia 52, autosomal recessive - SPG52 (15.47)

AP5Z1
Hypothetical protein LOC9907 ?



7p22.2
* Spastic paraplegia 48, autosomal recessive - SPG48 (15.43)

APTX
Aprataxin



9p13.3
* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.50)

AR
Androgen receptor



Xq11.2-q12
* Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.65)
* Kennedy disease - KD (12.65)

ARHGEF10
Rho guanine nucleotide exchange factor 10



8p23
* Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)

ARL6IP1
ADP-ribosylation factor-like 6 interacting protein 1



16p12.3
* Spastic paraplegia 61, autosomal recessive - SPG61 (15.53)

ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1



8p22
* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.29)

ASCC1
activating signal cointegrator 1 complex subunit 1



10q22.1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.35)

ATL1
Atlastin GTPase 1



14q22.1
* Neuropathy, hereditary sensory, type ID - HSN1D (14.79, 15.1)
* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.79, 15.1)

ATL3
atlastin GTPase 3



11q13.1
* Hereditary sensory neuropathy type IF - HSN IF (14.80)

ATM
Ataxia telangiectasia mutated



11q22.3
* ataxia telangiectasia - AT (13.63)

ATP2A1
ATPase, Ca++ transporting, fast twitch 1



16p12.1
* Brody myopathy - ATP2A1 (6.9)

ATP7A
ATPase, Cu++ transporting, alpha polypeptide



Xq13-q21
* Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.21)

ATXN1
Ataxin 1



6p23
* Spinocerebellar ataxia 1 - SCA1 (13.1)
* Olivopontocerebellar atrophy I - OPCA1 (13.1)

ATXN10
Ataxin 10



22q13.31
* Spinocerebellar ataxia 10 - SCA10 (13.9)

ATXN2
Ataxin 2



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)

ATXN3
Ataxin 3



14q24.3-q32.2
* Machado-Joseph disease - MJD (13.3)
* Spinocerebellar ataxia 3 - SCA3 (13.3)

ATXN7
Ataxin 7



3p21.1-p12
* Spinocerebellar ataxia 7 - SCA7 (13.7)
* Olivopontocerebellar atrophy III - OPCA3 (13.7)

ATXN8OS
Ataxin 8 opposite strand



13q21
* Spinocerebellar ataxia 8 - SCA8 (13.8)