Source: ALL

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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease 0.600 None 1.000 3 4 1999 2009
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease 0.300 None 0 0
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease 0.200 None 1.000 1 0 2002 2002