Gene product table

Protein

Gene Symbol

All allelic disease phenotypes - locus/disease symbols

abhydrolase domain containing 5

ABHD5 (3p25.3-p24.3)

Chanarin-Dorfman syndrome -CDS

Acetylcholine receptor

CHRNA1 (2q24-q32)

	Myasthenic syndrome, slow-channel congenital -SCCMS
	Myasthenic syndrome, fast-channel congenital -FCCMS

acetylcholinesterase collagen-like tail subunit

COLQ (3p25)

Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency -EAD

acid alpha-glucosidase preproprotein

GAA (17q25.2-q25.3)

Glycogen storage disease II -GSDII

actin, alpha, cardiac muscle precursor

ACTC1 (15q11-q14)

	Cardiomyopathy, dilated, 1R -CMD1R
	Cardiomyopathy, familial hypertrophic -CMH1
	Asymmetric septal hypertrophy -ASH

actin-filament binding protein Frabin

FGD4 (12p11.21)

Charcot-Marie-Tooth neuropathy Type 4H -CMT4H

actinin alpha2

ACTN2 (1q42-q43)

dilated cardiomyopathy, 1aa -CMD1AA

activin A receptor, type II-like kinase 2

ACVR1 (2q23-q24)

Fibrodysplasia ossificans progressiva -FOP

acyl-Coenzyme A dehydrogenase, very long chain

ACADVL (17p13)

Acyl-CoA dehydrogenase (very long chain) deficiency -VLCAD

adipose triglyceride lipase (desnutrin)

PNPLA2 (1p15.5)

neutral lipid storage disease without ichthyosis -NLSDM

aldehyde dehydrogenase 3A2

ALDH3A2 (17p11.2)

	Sjogren-Larsson syndrome -SLS
	Aldehyde dehydrogenase, family 3, subfamily A, member 2 -ALDH3A2
	Fatty aldehyde dehydrogenase -FALDH

alpha 1 type VI collagen

COL6A1 (21q22.3)

	Bethlem myopathy -
	Ullrich congenital muscular dystrophy -UCMD
	Ossification of the posterior longitudinal spinal ligaments -OPLL

alpha 2 type VI collagen

COL6A2 (21q22.3)

	Bethlem myopathy -
	Ullrich scleroatonic muscular dystrophy -UCMD

alpha 3 type VI collagen

COL6A3 (2q37)

	Bethlem myopathy -
	Ullrich congenital muscular dystrophy -UCMD

alpha actin, skeletal muscle

ACTA1 (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

alpha sarcoglycan

SGCA (17q21)

	Adhalinopathy, primary -ADL
	Muscular dystrophy, limb-girdle, type 2D -LGMD2D

alsin

ALS2 (2q33.2)

	Amyotrophic lateral sclerosis, juvenile -ALS2
	Primary lateral sclerosis, juvenile -PLSJ
	Spastic paralysis, infantile onset ascending -IAHSP

amphiphysin

BIN1 (2q14)

	box-dependent myc-interacting protein 1 -BIN1
	centronuclear myopathy, recessive -BIN1

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

AGL (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

androgen receptor

AR (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

angiogenin

ANG (14q11.2)

amyotrophic lateral sclerosis 9 -ALS9

ankyrin 2

ANK2 (4q25-q27)

Long QT syndrome-4 -LQT4

ankyrin repeat domain 1 (cardiac muscle)

ANKRD1 (10q23.33)

anoctamin 5

ANO5 (11p14.3)

Muscular dystrophy, limb-girdle, type 2L -LGMD2L

apolipoprotein A-I precursor

APOA1 (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

aprataxin

APTX (9p13.3)

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia -EAOH

ataxia telangiectasia mutated

ATM (11q22.3)

ataxia telangiectasia -AT

ataxin 1

ATXN1 (6p23)

	Olivopontocerebellar atrophy I -OPCA1
	Spinocerebellar ataxia 1 -SCA1

ataxin 10

ATXN10 (22q13.31)

Spinocerebellar ataxia 10 -SCA10

ataxin 2

ATXN2 (12q24.1)

	Spinocerebellar ataxia 2 -SCA2
	Olivopontocerebellar atrophy II -OPCA

ataxin 3

ATXN3 (14q24.3-q32.2)

	Machado-Joseph disease -MJD
	Spinocerebellar ataxia 3 -SCA3

ataxin 7

ATXN7 (3p21.1-p12)

	Spinocerebellar ataxia 7 -SCA7
	Olivopontocerebellar atrophy III -OPCA3

ataxin 8 opposite strand

ATXN8OS (13q21)

Spinocerebellar ataxia 8 -SCA8

atlastin

SPG3A (14q22.1)

	Spastic paraplegia 3A -SPG3A
	Familial spastic paraplegia, autosomal dominant, 1 -FSP1

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

ABCC9 (16p13.1)

Cardiomyopathy, dilated, 1O -CMD1O

ATP-binding cassette, sub-family D (ALD), member 1

ABCD1 (Xq28)

	Adrenoleukodystrophy -ALD
	Adrenomyeloneuropathy -ALD

ATPase, Ca++ transporting, fast twitch 1

ATP2A1 (16p12.1)

Brody myopathy -ATP2A1