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 (14.48)
ABCC9 ATP-binding cassette, sub-family C (member 9)	16p13.1	* Cardiomyopathy, dilated, 1O - CMD1O (10.41)
ABHD5 abhydrolase domain containing 5	3p25.3-p24.3	* Chanarin-Dorfman syndrome - CDS (9.22)
ACADVL acyl-Coenzyme A dehydrogenase, very long chain	17p13	* Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.21)
ACTA1 alpha actin, skeletal muscle	1q42.1	* Nemaline myopathy 3 - NEM3 (3.3, 3.9, 3.29) * myopathy, congenital, with fiber-type disproportion - CFTD (3.3, 3.9, 3.29)
ACTC1 actin, alpha, cardiac muscle precursor	15q11-q14	* Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.44) * Asymmetric septal hypertrophy - ASH (10.10, 10.44) * Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.44)
ACTN2 actinin alpha2	1q42-q43	* Hypertrophic cardiomyopathy with actinin-2 defect - (10.23, 10.27) * dilated cardiomyopathy, 1aa - CMD1AA (10.23, 10.27)
ACVR1 activin A receptor, type II-like kinase 2	2q23-q24	* Fibrodysplasia ossificans progressiva - FOP (5.16)
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	* Myasthenia, limb-girdle, familial - LGM (11.17)
ALDH3A2 aldehyde dehydrogenase 3A2	17p11.2	* Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.41) * Fatty aldehyde dehydrogenase - FALDH (15.41) * Sjogren-Larsson syndrome - SLS (15.41)
ALS2 alsin	2q33.2	* Amyotrophic lateral sclerosis, juvenile - ALS2 (12.23, 15.42) * Primary lateral sclerosis, juvenile - PLSJ (12.23, 15.42) * Spastic paralysis, infantile onset ascending - IAHSP (12.23, 15.42)
ANG angiogenin	14q11.2	* amyotrophic lateral sclerosis 9 - ALS9 (12.30)
ANK2 ankyrin 2	4q25-q27	* Long QT syndrome-4 - LQT4 (10.90)
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)	10q23.33	* Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect - (10.22, 10.60) * Dilated cardiomyopathy with cardiac ankyrin repeat protein defect - (10.22, 10.60)
ANO5 anoctamin 5	11p14-12	* Early onset calf distal myopathy - (1.30, 4.13) * Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.30, 4.13)
APTX aprataxin	9p13.3	* Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.40)
AR androgen receptor	Xq11.2-q12	* Prostate cancer - AR (12.32) * Androgen insensitivity - AIS (12.32) * Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.32) * Breast cancer, male, with Reifenstein syndrome - DHTR (12.32) * Perineal hypospadias - DHTR (12.32)
ARHGEF10 Rho guanine nucleotide exchange factor 10	8p23	* Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)
ATL1 atlastin GTPase 1	14q22.1	* Neuropathy, hereditary sensory, type ID - HSN1D (14.56)
ATM ataxia telangiectasia mutated	11q22.3	* ataxia telangiectasia - AT (13.52)
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 (12.18)
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 (13.2) * Olivopontocerebellar atrophy II - OPCA (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)