Source: CLINVAR

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: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		disease 0.600 None 1.000 2 24 1997 2019
Entrez Id: 654841
Gene Symbol: MFF-DT
MFF-DT 		MFF divergent transcript 0.780 0.269
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		disease 0.100 None 1.000 2 24 1997 2019
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		disease 0.100 None 0 19