chromosome
gene symbol
phenotype
Restrictive cardiomyopathy, 2 -RCM2calcium channel, voltage-dependent, beta 2 subunit
brugada syndrome 4 -Arrhythmogenic right ventricular dysplasia, familial, 6 -ARVD6Arrhythmogenic right ventricular cardiomyopathy 6 -ARVC6choline acetyltransferase isoform
Myasthenia gravis, autosomal recessive -MGIMyasthenia gravis, familial infantile -FIMGCongenital myasthenic syndrome with choline acetyltransferase deficiency -CMS-EAMyasthenia gravis, familial infantile, 2 -FIMG2phytanoyl-CoA 2-hydroxylase
Refsum disease, adult -RDearly growth response 2 protein
Dejerine-Sottas neuropathy -DSNCharcot-Marie-Tooth neuropathy Type 4E -CMT4ENeuropathy, congenital hypomyelinating -CHNCharcot-Marie-Tooth disease, type 1D -CMT1Dmyopalladin
Dilated cardiomyopathy due to myopalladin defect -LIM domain binding 3
cardiomyopathy, dilated 1C -CMD1Cmyofibrillar myopathy ZASP-related -MFM4arrhythmogenic right ventricular dysplasia, familial, 7 -ARVD7Charcot-Marie-Tooth neuropathy Type 4G -CMT4GAtrial fibrillation, 2 -ATFB2Spastic paraplegia 27 -SPG27Atrial fibrillation, 1 -ATFB1vinculin
Cardiomyopathy, dilated, 1W -CMD1WCardiomyopathy, familial hypertrophic, 15 -CMH15Arrhythmogenic right ventricular dysplasia , 7 -ARVD7Spastic paraplegia 9 -SPG9twinkle/twinky (mt DNA helicase)
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy -IOSCAProgressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEO3Aankyrin repeat domain 1 (cardiac muscle)
Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect -Dilated cardiomyopathy with cardiac ankyrin repeat protein defect -COX15 homolog, cytochrome c oxidase assembly protein (yeast)
Cardiomyopathy, hypertrophic, early-onset fatal -charcot-marie-tooth neuropathy, dominant intermediate A -CMTDIAprotrudin
Spastic paraplegia 33 -SPG33Spastic paraplegia 45, autosomal recessive -SPG45BCL2-associated athanogene 3
myofibrillar myopathy with bag3 defect -RNA binding motif protein 20
Cardiomyopathy, dilated, 1DD -CMD1DD