Porencephaly

Disease Term Disease ID Gene Symbol Classification References Source
Familial porencephaly 99810 COL4A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Porencephaly C4082173 COL4A2 Causal Pathogenic evidence from ClinVar 22209247 ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 607595, 23225343 -
PORENCEPHALY 2 C3280970 COL4A2 Causal Pathogenic evidence from ClinVar 22209246, 22209247, 22333902, 24357685, 30315939 ClinVar
PORENCEPHALY, FAMILIAL C1867983 COL4A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 607595, 23225343, 26633545 -
Porencephaly, Type 1, Autosomal Dominant C4551998 COL4A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 607595, 15905400, 16107487, 16598045, 17379824, 17696175, 17938367, 19194877, 19477666, 20385946, 21625620, 22134833, 22574627, 23225343, 23394911, 24357685, 24628545, 30315939 -