Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		disease 0.830 None 1.000 0 0 1977 2016