chromosome
gene symbol
phenotype
angiogenin
amyotrophic lateral sclerosis 9 -ALS9poly(A) binding protein, nuclear 1
Oculopharyngeal muscular dystorphy -OPMDcofilin 2 (muscle)
Nemaline myopathy -NEM7myosin heavy chain 6
Cardiomyopathy, familial hypertrophic 1 -CMH1Familial hypertrophic cardiomyopathy, 14 -CMH14Cardiomyopathy, dilated, 1EE -CMD1EEmyosin, heavy polypeptide 7, cardiac muscle, beta
Myopathy, distal 1 -MPD1cardiomyopathy, familial hypertrophic, 1, included -CMH1myopathy, congenital, with fiber-type disproportion -CFTDMyosin storage myopathy -Cardiomyopathy, dilated, 1S -CMD1Sspastic paraplegia 32, autosomal recessive -SPG32Arrhythmogenic right ventricular cardiomyopathy 3 -ARVC3Arrhythmogenic right ventricular dysplasia-3 -ARVD3Spastic paraplegia 20 -SPG28atlastin
Spastic paraplegia 3A -SPG3AFamilial spastic paraplegia, autosomal dominant, 1 -FSP1atlastin GTPase 1
Neuropathy, hereditary sensory, type ID -HSN1Dspectrin repeat containing, nuclear envelope 2 (nesprin 2)
Nesprin-2 related muscular dystrophy -EDMDspastizin
Spastic paraplegia 15 -SPG15transforming growth factor, beta 3
Arrhythmogenic right ventricular dysplasia, familial, 1 -ARVD1Arrhythmogenic right ventricular dysplasia, 1 -TGFB3protein-O-mannosyltransferase 2
Walker-Warburg syndrome -WWS2Muscle-eye-brain disease -MEBLimb-girdle, muscular dystrophy, type 2n -LGMD2Nserine palmitoyltransferase long chain base subunit 2
Neuropathy, hereditary sensory and autonomic, type IC -HSAN1Cataxin 3
Machado-Joseph disease -MJDSpinocerebellar ataxia 3 -SCA3Tyrosyl-DNA phosphodiesterase 1
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy -SCAN1vaccinia related kinase 1
Pontocerebellar hypoplasia type 1 -PCH1Fibulin 5 (extra-cellular matrix)
Charcot-Marie-Tooth neuropathy, with fibulin defect -dynein, cytoplasmic 1, heavy chain 1
Charcot-Marie-Tooth disease, axonal, type 20 -CMT2O