chromosome
gene symbol
phenotype
nerve growth factor (beta polypeptide)
neuropathy, hereditary sensory and autonomic type v -HSAN5calsequestrin 2 (cardiac muscle)
ventricular tachycardia, catecholaminergic polymorphi -CPVTadipose triglyceride lipase (desnutrin)
neutral lipid storage disease without ichthyosis -NLSDMAmylo-1,6-glucosidase, 4-alpha-glucanotransferase
Glycogen storage disease type IIIa -GSD IIIaGlycogen storage disease type IIIb -GSD IIIbGlycogen storage disease type IIIc -GSD IIIcGlycogen storage disease type IIId -GSD IIIdSpinocerebellar ataxia 19 -SCA19Spinocerebellar ataxia 21 -SCA22Spastic paraplegia 29 -SPG29carnitine palmitoyltransferase II
Myopathy due to CPT II deficiency -CPT2CPT deficiency, hepatic, type II -CPT2Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II -CPTaseO-linked mannose beta1,2-N-acetylglucosaminyltransferase
limb-girdle, muscular dystrophy, type 2o -LGMD2OMuscle-eye-brain disease -MEBWalker-Warburg syndrome -WWS Charcot-Marie-Tooth neuropathy, dominant intermediate C -CMTDICSpinocerebellar ataxia 24 -SCA24Spinocerebellar ataxia, autosomal recessive 4 -SCAR4natriuretic peptide precursor A
atrial fibrillation, familial, 6 -ATFB6perlecan
Dyssegmental dysplasia, Silverman-Handmaker type -DDSHSchwartz-Jampel syndrome, type 1 -SJS1Selenoprotein N1
myopathy, congenital, with fiber-type disproportion -CFTDMinicore myopathy with external ophthalmoplegia -Muscular dystrophy, rigid spine, 1 -MDRS1Rigid spine syndrome -RSSMinicore myopathy, severe classic form -RSMD1Desmin-related myopathy with Mallory bodies -RSMD1kinesin family member 1B
Charcot-Marie-Tooth disease, type 2A -CMT2ATAR DNA binding protein
amyotrophic lateral sclerosis 10 -ALS10mitofusin 2
Hereditary motor and sensory neuropathy 2A -CMT2Apleckstrin homology domain containing, family G (with RhoGef domain) member 5
spinal muscular atrophy, distal, autosomal recessive, 4 -DSMA4tropomyosin 3
Nemaline myopathy 1, autosomal dominant -NEM1myopathy, congenital, with fiber-type disproportion -CFTDconnexin 40
atrial fibrillation, familial, 1 -ATFB1lamin A/C
Cardiomyopathy, dilated, 1A -CMD1ALipodystrophy, familial partial, type 2 -FPLD2Lipodystrophy, familial partial, type 2 -FPLD2Muscular dystrophy, limb-girdle, type 1B -LGMD1BHutchinson-Gilford progeria syndrome -HGPSEmery-Dreifuss muscular dystrophy, autosomal dominant -EDMD2Mandibuloacral dysplasia with type a lipodystrophy -MADArestrictive dermopathy -restrictive dermopathy -Emery-Dreifuss Autosomal recessive -EDMD3Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1myelin protein zero
Charcot-Marie-Tooth disease, type 1B -CMT1BDejerine-Sottas syndrome -DSSNeuropathy, congenital hypomyelinating -CMT4ECharcot-Marie-Tooth disease, type 2I -CMT2ICharcot-Marie-Tooth disease, type 2J -CMT2JCharcot-Marie-Tooth disease, dominant intermediate D -CMTDIDSpastic paraplegia 23 -SPG23troponin T2, cardiac
Cardiomyopathy, familial hypertrophic, 2 -CMH2Cardiomyopathy, dilated, 1D -CMD1Dcalcium channel, voltage-dependent, L type, alpha 1S subunit
Hypokalaemic periodic paralysis, type 1 -hypoKPP1Hypokalemic periodic paralysis -CACNL1A3Malignant hyperthermia susceptibility 5 -MHS5Rippling muscle disease -RMD1Muscular dystrophy, congenital, 1B -MDC1Bepisodic ataxia type-3 -EA3actinin alpha2
dilated cardiomyopathy, 1aa -CMD1AA ryanodine receptor 2
Arrhythmogenic right ventricular dysplasia 2 -ARVD2Arrhythmogenic right ventricular cardiomyopathy 2 -ARVC2Ventricular tachycardia, catecholaminergic polymorphic -CPVTVentricular tachycardia, stress-induced polymorphic -VTSIPchaperone, ABC1 activity of bc1 complex homolog (S. pombe)
spinocerebellar ataxia, autosomal recessive 9 -SCAR9alpha actin, skeletal muscle
Myopathy, actin -ASMACongenital myopathy with excess of thin myofilaments, included -ASMAMyopathy, nemaline -NEM1myopathy, congenital, with fiber-type disproportion -CFTDNemaline myopathy 2, autosomal recessive -NEM2