Ullrich congenital muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Ullrich congenital muscular dystrophy 1 C0410179 COL12A1 Causal Pathogenic evidence from ClinVar 24334604 ClinVar
COL6A1 Causal Pathogenic evidence from ClinVar 15689448, 16130093, 17785674, 18366090, 23738969, 24038877, 25535305 ClinVar
COL6A2 Causal Pathogenic evidence from ClinVar 11381124, 15563506, 15689448, 18366090, 19564581 ClinVar
COL6A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11992252, 15563506, 15689448, 18366090, 19564581 -
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 C4225314 COL12A1 Causal Pathogenic evidence from ClinVar 24334604, 24334769, 27159402, 27348394 ClinVar
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT C4225636 COL6A1 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL6A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -