COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Thin basement membrane disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 GeneticVariation disease BEFREE Mutations have been identified in the COL4A5 gene in ATS and in the COL4A3 and COL4A4 genes in ATS and TBMN. 26809805 2016
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 Biomarker disease BEFREE Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. 25381091 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 Biomarker disease BEFREE Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. 24398087 2014
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 GeneticVariation disease BEFREE Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. 23516419 2013
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 Biomarker disease BEFREE Three collagen IV genes, COL4A3, COL4A4, and COL4A5 explain the autosomal and X-linked forms of Alport syndrome (AS), and a subset of thin basement membrane nephropathy (TBMN). 21688191 2012
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.060 GeneticVariation disease BEFREE Female carriers with a mutation in the Col4A5 gene can develop thin basement membrane nephropathy (TBMN). 20951199 2011