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: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease 0.900 strong 1.000 2 0 1991 2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease 0.700 definitive 0.977 2 0 1990 2020
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		disease 0.600 strong 0.960 1 0 1992 2020
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype 0.480 strong 1.000 1 0 2001 2019
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.440 strong 1.000 0 0 2011 2018
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.410 strong 1.000 1 0 1995 1997
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		disease 0.340 strong 1.000 1 0 2003 2014
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease 0.310 strong 1.000 1 0 2003 2005
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease 0.310 strong 1.000 1 0 2017 2019
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant 		disease 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0