Source: GENOMICS_ENGLAND

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: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		disease 0.800 None 1.000 3 0 1994 2017
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		disease 0.800 None 1.000 2 0 1996 2019
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease 0.800 None 1.000 1 0 1994 2017
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease 0.700 strong 0.982 1 0 1986 2020
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 3 0 1997 2019
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease 0.600 strong 1.000 1 0 1994 2019
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		disease 0.600 strong 1.000 0 0 2001 2018
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant 		disease 0.530 None 1.000 1 0 1997 2019
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.320 strong 1.000 0 0 2007 2017
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C0848548
Disease: hypertensive nephropathy
hypertensive nephropathy 		disease 0.300 strong 0 0
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0