Welander distal myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Welander Distal Myopathy C0221054 TIA1 Causal Pathogenic evidence from ClinVar 10482271, 23348830, 23401021, 27282841, 28817800, 29457785 ClinVar
C2orf42 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10482271, 23348830, 23401021, 27282841, 28817800 -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SQSTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29457785 -
TTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12145747 -
Welander distal myopathy, Swedish type C2931290 TIA1 Causal Pathogenic evidence from ClinVar 23348830, 23401021, 29457785 ClinVar
SQSTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29457785 -