Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly
0.300 GermlineCausalMutation ORPHANET Intracranial sonographic features demonstrating in utero development of hemorrhagic brain damage leading to schizencephaly-associated COL4A1 mutation. 26576802

2015