chromosome
gene symbol
phenotype
nerve growth factor (beta polypeptide)
neuropathy, hereditary sensory and autonomic type v -HSAN5Spastic paraplegia 47, autosomal recessive -SPG47calsequestrin 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 IIIb -GSD IIIbGlycogen storage disease type IIIa -GSD IIIaGlycogen storage disease type IIId -GSD IIIdGlycogen storage disease type IIIc -GSD IIIcSpinocerebellar ataxia 19 -SCA19Spinocerebellar ataxia 21 -SCA22phosphoglucomutase 1
Glycogen storage disease XIV -GSD14Spastic paraplegia 29 -SPG29carnitine palmitoyltransferase II
Myopathy due to CPT II deficiency -CPT2CPT deficiency, hepatic, type II -CPT2Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II -CPTaseNexilin(F-actin binding protein)
Hypertrophic cardiomyopathy with nexilin defect -Cardiomyopathy, familial hypertrophic 20 -CMH20Cardiomyopathy, dilated, 1CC -CMD1CCO-linked mannose beta1,2-N-acetylglucosaminyltransferase
Muscle-eye-brain disease -MEBWalker-Warburg syndrome -WWSLimb-girdle, muscular dystrophy, type 2o -LGMD2Otyrosyl-tRNA synthetase
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 -CFTDMultiminicore disease, classical form -Rigid spine syndrome -RSSDesmin-related myopathy with Mallory bodies -RSMD1Muscular dystrophy, rigid spine, 1 -MDRS1kinesin family member 1B
Charcot-Marie-Tooth disease, type 2A1 -CMT2A1TAR 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 -DSMA4Agrin
Myasthenia, limb-girdle, familial -LGMconnexin 40
atrial fibrillation, familial, 1 -ATFB1tropomyosin 3
Nemaline myopathy 1, autosomal dominant -NEM1lamin A/C
Cardiomyopathy, dilated, 1A -CMD1ALipodystrophy, 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 -Emery-Dreifuss Autosomal recessive -EDMD3Charcot-Marie-Tooth disease, axonal, type 2B1 -CMT2B1myelin protein zero
Charcot-Marie-Tooth disease, type 1B -CMT1BDejerine-Sottas syndrome -DSSANeuropathy, 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
Hypokalemic periodic paralysis -CACNL1A3Hypokalaemic periodic paralysis, type 1 -hypoKPP1Malignant hyperthermia susceptibility 5 -MHS5Rippling muscle disease -RMD1Congenital muscular dystrophy with merosin deficiency -MDC1Bepisodic ataxia type-3 -EA3actinin alpha2
Hypertrophic cardiomyopathy with actinin-2 defect -dilated cardiomyopathy, 1aa -CMD1AA alpha actin, skeletal muscle
Nemaline myopathy 3 -NEM3myopathy, congenital, with fiber-type disproportion -CFTDryanodine receptor 2
Arrhythmogenic right ventricular cardiomyopathy 2 -ARVC2Arrhythmogenic right ventricular dysplasia 2 -ARVD2Ventricular tachycardia, catecholaminergic polymorphic -CPVTVentricular tachycardia, stress-induced polymorphic -VTSIP Cardiomyopathy, dilated, 1W -CMD1Uchaperone, ABC1 activity of bc1 complex homolog (S. pombe)