COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Renal glomerular disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 GeneticVariation group BEFREE X-Linked Glomerulopathy Due to COL4A5 Founder Variant. 29198386 2018
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 Biomarker group BEFREE Mutations in genes encoding LAMB2, COL4A3, COL4A4, and COL4A5 cause glomerular disease in humans as well as in mice. 22683419 2012
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 GeneticVariation group BEFREE Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption. 20881942 2011
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 Biomarker group BEFREE Of these nine proteins, mutations in the genes encoding four of them (LAMB2, COL4A3, COL4A4, and COL4A5) cause glomerular disease in humans as well as in mice. 21327778 2011
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 CausalMutation group CLINVAR
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.440 Biomarker group GENOMICS_ENGLAND