Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
ABCC9
ATP-binding cassette, sub-family C (member 9)
16p13.1
 | Cardiomyopathy, dilated, 1O -CMD1O |
ABCD1
ATP-binding cassette, sub-family D (ALD), member 1
Xq28
| Adrenoleukodystrophy -ALD |
| Adrenomyeloneuropathy -ALD |
ABHD5
abhydrolase domain containing 5
3p25.3-p24.3
| Chanarin-Dorfman syndrome -CDS |
ACADVL
acyl-Coenzyme A dehydrogenase, very long chain
17p13
| Acyl-CoA dehydrogenase (very long chain) deficiency -VLCAD |
ACTA1
alpha actin, skeletal muscle
1q42.13-q42.2
| Myopathy, actin -ASMA |
| Congenital myopathy with excess of thin myofilaments, included -ASMA |
| Myopathy, nemaline -NEM1 |
| myopathy, congenital, with fiber-type disproportion -CFTD |
| Nemaline myopathy 2, autosomal recessive -NEM2 |
ACTC1
actin, alpha, cardiac muscle precursor
15q11-q14
| Cardiomyopathy, dilated, 1R -CMD1R |
| Cardiomyopathy, familial hypertrophic -CMH1 |
| Asymmetric septal hypertrophy -ASH |
ACTN2
actinin alpha2
1q42-q43
| dilated cardiomyopathy, 1aa -CMD1AA |
ACVR1
activin A receptor, type II-like kinase 2
2q23-q24
| Fibrodysplasia ossificans progressiva -FOP |
AGL
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
1p21
| Glycogen storage disease type IIIa -GSD IIIa |
| Glycogen storage disease type IIIb -GSD IIIb |
| Glycogen storage disease type IIIc -GSD IIIc |
| Glycogen storage disease type IIId -GSD IIId |
ALDH3A2
aldehyde dehydrogenase 3A2
17p11.2
| Sjogren-Larsson syndrome -SLS |
| Aldehyde dehydrogenase, family 3, subfamily A, member 2 -ALDH3A2 |
| Fatty aldehyde dehydrogenase -FALDH |
ALS2
alsin
2q33.2
| Amyotrophic lateral sclerosis, juvenile -ALS2 |
| Primary lateral sclerosis, juvenile -PLSJ |
| Spastic paralysis, infantile onset ascending -IAHSP |
ANG
angiogenin
14q11.2
| amyotrophic lateral sclerosis 9 -ALS9 |
ANK2
ankyrin 2
4q25-q27
| Long QT syndrome-4 -LQT4 |
ANKRD1
ankyrin repeat domain 1 (cardiac muscle)
10q23.33
ANO5
anoctamin 5
11p14.3
| Muscular dystrophy, limb-girdle, type 2L -LGMD2L |
APOA1
apolipoprotein A-I precursor
11q23-q24
| Amyloidosis, 3 or more types -APOA1 |
| ApoA-I and apoC-III deficiency, combined -APOA1 |
| Corneal clouding, autosomal recessive -APOA1 |
| Hypertriglyceridemia, one form -APOA1 |
| Hypoalphalipoproteinemia -APOA1 |
APTX
aprataxin
9p13.3
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia -EAOH |
AR
androgen receptor
Xq11.2-q12
| Prostate cancer -AR |
| Androgen insensitivity -AIS |
| Spinal and bulbar muscular atrophy of Kennedy -SBMA |
| Breast cancer, male, with Reifenstein syndrome -DHTR |
| Perineal hypospadias -DHTR |
ARHGEF10
Rho guanine nucleotide exchange factor 10
8p23
| Slowed nerve conduction velocity, autosomal dominant -NCV |
ATM
ataxia telangiectasia mutated
11q22.3
| ataxia telangiectasia -AT |
ATP2A1
ATPase, Ca++ transporting, fast twitch 1
16p12.1
| Brody myopathy -ATP2A1 |
ATXN1
ataxin 1
6p23
| Olivopontocerebellar atrophy I -OPCA1 |
| Spinocerebellar ataxia 1 -SCA1 |
ATXN10
ataxin 10
22q13.31
| Spinocerebellar ataxia 10 -SCA10 |
ATXN2
ataxin 2
12q24.1
| Spinocerebellar ataxia 2 -SCA2 |
| Olivopontocerebellar atrophy II -OPCA |
ATXN3
ataxin 3
14q24.3-q32.2
| Machado-Joseph disease -MJD |
| Spinocerebellar ataxia 3 -SCA3 |
ATXN7
ataxin 7
3p21.1-p12
| Spinocerebellar ataxia 7 -SCA7 |
| Olivopontocerebellar atrophy III -OPCA3 |
ATXN8OS
ataxin 8 opposite strand
13q21
| Spinocerebellar ataxia 8 -SCA8 |