Gene table



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

AARS
Alanyl-tRNA synthetase



16q22.1
* Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.37, 14.59)

AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
* Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.33)

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



16p13.1
* Cardiomyopathy, dilated, 1O - CMD1O (5.48, 10.169, 10.52)
* Atrial fibrillation , 12 - ATFB12 (5.48, 10.169, 10.52)

ABCD3
ATP-binding cassette, subfamily D, member 3



1p21.3
* Oculopharyngodistal myopathy 5 - OPDM5 (5.27)

ABHD16A
Abhydrolase domain-containing protein 16a, phospholipase



6p21.33
* Spastic paraplegia 86, autosomal recessive - SPG86 (15.75)

ABHD5
Abhydrolase domain containing 5



3p25.3-p24.3
* Chanarin-Dorfman syndrome - CDS (9.30)

ACAD9
Acyl-CoA dehydrogenase family member 9(M)



3q21.3
* Mitochondrial complex 1 deficiency, nuclear type 20 - MC1DN20 (9.29)

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



17p13
* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.28)

ACTA1
Alpha actin, skeletal muscle



1q42.1
* myopathy, congenital, with fiber-type disproportion - CFTD (2.46, 3.1, 3.2, 3.37, 3.38)
* Congenital myopathy 2A, typical - CMYP2A (2.46, 3.1, 3.2, 3.37, 3.38)
* Congenital myopathy 2B, severe infantile - CMYP2B (2.46, 3.1, 3.2, 3.37, 3.38)
* Left ventricular noncompaction 4 - LVNC4 (2.46, 3.1, 3.2, 3.37, 3.38)
* Congenital myopathy 2C, severe infantile, dominant - CMYP2C (2.46, 3.1, 3.2, 3.37, 3.38)
* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.46, 3.1, 3.2, 3.37, 3.38)
* Nemaline myopathy 3 - NEM3 (2.46, 3.1, 3.2, 3.37, 3.38)

ACTC1
Actin, alpha, cardiac muscle precursor



15q11-q14
* Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.107, 10.55)
* Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.107, 10.55)
* Asymmetric septal hypertrophy - ASH (10.10, 10.107, 10.55)

ACTN2
Actinin alpha2



1q42-q43
* Hypertrophic cardiomyopathy related to actinin-2 - (3.48, 4.10, 10.25, 10.64)
* dilated cardiomyopathy, 1aa - CMD1AA (3.48, 4.10, 10.25, 10.64)
* Myopathy, distal 6, Adult-onset - MPD6 (3.48, 4.10, 10.25, 10.64)
* Congenital myopathy 8 - CMYP8 (3.48, 4.10, 10.25, 10.64)

ACVR1
Activin A receptor, type II-like kinase 2



2q23-q24
* Fibrodysplasia ossificans progressiva - FOP (5.31)

ADAMTS15
A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15



11q24.3
* Arthrogryposis, distal type 12 - DA12 (17.22)

ADCK3
Coenzyme Q8A



1q42.13
* spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.69, 17.49)
* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.69, 17.49)

ADCY6
Adenylate cyclase 6



12q13.12
* Lethal Congenital Contracture Syndrome 8 - LCCS8 (12.97)

ADGRG6
Adhesion G protein-coupled recptor G6



6q24.2
* Lethal Congenital Contracture Syndrome 9 - LCCS9 (12.98)

ADPRHL2
ADP-Ribosylhydrolase-Like 2



1p34.3
* Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS (12.116)

ADSS1
Adenylosuccinate synthase 1



14q32-33
* Myopathy, distal, 5 - MPD5 (4.9)

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



18p11-q11
* Spinocerebellar ataxia 28 - SCA28 (13.25, 15.95)
* Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.95)

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, 17.33)
* Fetal akinesia deformation related to AGRN - (11.16, 17.33)

AHNAK2
Ahnak nucleoprotein 2



14q32
* Charcot-Marie Tooth disease - (14.35)

AIFM1
Apoptosis-inducing factor, Mitochondria-associated 1(M)



Xq24-q26.1
* Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.108, 14.40, 17.44)
* Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.108, 14.40, 17.44)
* Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.108, 14.40, 17.44)
* Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.108, 14.40, 17.44)
* Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.108, 14.40, 17.44)

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



7q21.2
* Long QT syndrome 11 - LQT11 (10.146)

ALDH18A1
Aldehyde deydrogenase 18 family, member A1 (M)



10q24.1
* Spastic paraplegia 9 - SPG9A (15.5, 15.26)
* Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.26)

ALDH3A2
Aldehyde dehydrogenase 3A2



17p11.2
* Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.83)
* Fatty aldehyde dehydrogenase - FALDH (15.83)
* Sjogren-Larsson syndrome - SLS (15.83)

ALG13
UDP-N-acetylglucosami-nyltransferase



Xq23
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S

ALG14
UDP-N-acetylglucosaminyltransferase



1p21.3
* Myasthenic syndrome, congenital, 15, without tubular aggregates - CMS15 (11.23)

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



9q31.1
* Myasthenic syndrome, congenital, 14, with tubular aggregates - CMS14 (11.22)

ALPK3
Alpha kinase 3



15q25.3
* Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.29)

ALS2
Alsin Rho guanine nucleotide exchange factor 2



2q33.2
* Spastic paralysis, infantile onset ascending - IAHSP (12.55, 15.84)
* Amyotrophic lateral sclerosis, juvenile - ALS2 (12.55, 15.84)
* Primary lateral sclerosis, juvenile - PLSJ (12.55, 15.84)

AMFR
Autocrine motility factor receptor



16q13
* Spastic paraplegia 89, autosomal recessive - SPG89 (15.78)

AMPD2
Adenosine monophosphate deaminase 2



1p13.3
* Spastic paraplegia 63, autosomal recessive - SPG63 (15.60)

ANG
Angiogenin



14q11.2
* amyotrophic lateral sclerosis 9 - ALS9 (12.62)

ANK2
Ankyrin 2



4q25-26
* Long QT syndrome-4 - LQT4 (10.139)

ANKRD1
Ankyrin repeat domain 1 (cardiac muscle)



10q23.31
* Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.80)
* Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.80)

ANO10
Anoctamin 10



3p22.1-p21.3
* Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.70)

ANO5
Anoctamin 5



11p14-12
* Miyoshi muscular dystrophy 3 - MMD3 (1.14, 1.33, 4.3)
* Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.14, 1.33, 4.3)
* Muscular dystrophy with gnathodiaphyseal dysplasia - (1.14, 1.33, 4.3)

ANXA11
Annexin A11



10q23.3
* Amytrophic lateral sclerosis 23 - ALS23 (12.113, 12.76)
* Inclusion body myopathy and brain white matter abnormalities - IBMWMA (12.113, 12.76)

AP4B1
adaptor-related protein complex 4, beta 1 subunit



1p13.2
* Spastic paraplegia 47, autosomal recessive - SPG47 (15.47)

AP4E1
Adaptor-related protein complex 4, epsilon-1 subunit



15q21.2
* Spastic paraplegia 51, autosomal recessive - SPG51 (15.51)

AP4M1
Adaptor-related protein complex 4, mu 1 subunit



7q22.1
* Spastic paraplegia 50, autosomal recessive - SPG50 (15.50)

AP4S1
Adaptor-related protein complex 4, sigma 1 subunit



14q12
* Spastic paraplegia 52, autosomal recessive - SPG52 (15.52)

AP5Z1
Hypothetical protein LOC9907 ?



7p22.2
* Spastic paraplegia 48, autosomal recessive - SPG48 (15.48)

APOO
Apolipoprotein O(M)



Xp22.11
* Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.32)

APTX
Aprataxin



9p13.3
* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.61)

AR
Androgen receptor



Xq11.2-q12
* Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.49)
* Kennedy disease - KD (12.49)

ARHGEF10
Rho guanine nucleotide exchange factor 10



8p23
* Slowed nerve conduction velocity, autosomal dominant - NCV (14.13)

ARL6IP1
ADP-ribosylation factor-like 6 interacting protein 1



16p12.3
* Spastic paraplegia 61, autosomal recessive - SPG61 (15.58)

ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1



8p22
* Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.18)

ASCC1
Activating signal cointegrator 1 complex subunit 1



10q22.1
* Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.17, 17.25)
* Arthrogryposis related to ASCC1 - (12.17, 17.25)

ATG5
Autophagy 5, S. Cerevisiae, Homolog of



6q21
* Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.85)

ATG7
Autophagy-Related 7



3p25.3
* Spinocerebellar ataxia - SCAR31 (13.91)

ATL1
Atlastin GTPase 1



14q22.1
* Neuropathy, hereditary sensory, type ID - HSN1D (14.115, 15.1)
* Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.115, 15.1)

ATL3
atlastin GTPase 3



11q13.1
* Hereditary sensory neuropathy type IF - HSN IF (14.117)

ATM
Ataxia telangiectasia mutated



11q22.3
* ataxia telangiectasia - AT (13.99)

ATP13A2
ATPase, type 13A2(M)



1q36.13
* Spastic paraplegia 78, autosomal recessive - SPG78 (15.68)

ATP1A1
ATPase, Na+/K+ transporting, alpha-1 polypeptide



1p13.1
* Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.69)
* Charcot-Marie-Tooth disease, type 1, related to ATP1A1 - (14.69)

ATP1A2
ATPase, NA+/K+ transporting alpha-2 polypeptide



1q23.2
* Hypokalaemic periodic paralysis - (7.5)

ATP2A1
ATPase, Ca++ transporting, fast twitch 1



16p12.1
* Brody disease - BROD (6.9)

ATP7A
ATPase, Cu++ transporting, alpha polypeptide



Xq13-q21
* Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.51)

ATXN1
Ataxin 1



6p22.3
* 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



12q24.12
* Spinocerebellar ataxia 2 - SCA2 (12.66, 13.2)
* Olivopontocerebellar atrophy II - OPCA (12.66, 13.2)
* Amyotrophic lateral sclerosis 13 - ALS13 (12.66, 13.2)

ATXN3
Ataxin 3



14q32.12
* Machado-Joseph disease - MJD (13.3)
* Spinocerebellar ataxia 3 - SCA3 (13.3)

ATXN7
Ataxin 7



3p14
* Spinocerebellar ataxia 7 - SCA7 (13.7)
* Olivopontocerebellar atrophy III - OPCA3 (13.7)

ATXN8
Ataxin 8 opposite strand



13q21.33
* Spinocerebellar ataxia 8 - SCA8 (13.8)