Congenital myopathy with fiber type disproportion

Disease Term Disease ID Gene Symbol Classification References Source
Congenital Fiber Type Disproportion C0546264 ACTA1 Causal Pathogenic evidence from ClinVar 10508519, 15468086, 16945537, 17387733, 20179953 ClinVar
MTM1 Causal Pathogenic evidence from ClinVar 17376685 ClinVar
MYH7 Causal Pathogenic evidence from ClinVar - ClinVar
RYR1 Causal Pathogenic evidence from ClinVar 17376685 ClinVar
SELENON Causal Pathogenic evidence from ClinVar 12192640, 15668457, 16365872, 17951086, 23394784 ClinVar
TPM3 Causal Pathogenic evidence from ClinVar 12467750, 17376686, 18300303, 19487656, 19553118, 19953533, 20554445, 20951040, 21357678, 22749829, 22798622, 23886664, 24095155, 24507666, 24642510, 24692096, 26307083, 27363342 ClinVar
BIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17676042 -
CCDC78 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17376685 -
HACD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23933735 -
ITGA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23800289 -
LMNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24642510 -
MAP3K20 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27816943 -
MTMR14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23365102 -
ORAI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STIM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TPM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22832343 -
Congenital fiber-type disproportion myopathy 2020 ACTA1 Causal Pathogenic evidence from ClinVar - ClinVar
SELENON Causal Pathogenic evidence from ClinVar - ClinVar
TPM3 Causal Pathogenic evidence from ClinVar - ClinVar
HACD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ITGA7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAP3K20 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TPM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -