Visceral myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Familial visceral myopathy 2604 ACTG2 Causal Pathogenic evidence from ClinVar - ClinVar
Visceral Myopathy C0042781 ACTG2 Causal Pathogenic evidence from ClinVar 22960657, 24337657, 24676022, 24777424, 25998219, 26813947, 26938784 ClinVar
LMOD1 Causal Pathogenic evidence from ClinVar 28292896 ClinVar
MYH11 Causal Pathogenic evidence from ClinVar 25407000 ClinVar
MYLK Causal Pathogenic evidence from ClinVar 28602422 ClinVar
CLMP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Visceral Myopathy, Familial C0266833 ACTG2 Causal Pathogenic evidence from ClinVar 22960657 ClinVar
Visceral myopathy familial external ophthalmoplegia C1848586 RRM2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19667227 -
TYMP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16972839, 22977166 -