Disease Term Disease ID Gene Symbol References
PORENCEPHALY, FAMILIAL C1867983 COL4A1 23225343, 26633545, 607595
COL4A2
Porencephaly C4082173 COL4A1 607595, 23225343
COL4A2 22209247
Porencephaly, Type 1, Autosomal Dominant C4551998 COL4A1 20385946, 23225343, 19477666, 17379824, 17696175, 24628545, 23394911, 24357685, 19194877, 16598045, 17938367, 16107487, 607595, 15905400, 30315939, 22574627, 22134833, 21625620
COL4A2
PORENCEPHALY 2 C3280970 COL4A2 30315939, 22333902, 24357685, 22209247, 22209246
Familial porencephaly 99810 COL4A1
COL4A2