COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Familial hematuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.130 GeneticVariation disease BEFREE The most frequent new genetic diagnoses were COL4A5 mutations underlying familial haematuria and familial end stage renal disease. 28177086 2017
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.130 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: C1305904
Disease: Familial hematuria
Familial hematuria 		0.130 Biomarker disease BEFREE This study confirms that persistent familial hematuria is not always linked to COL4A3/COL4A4 (or COL4A5) and suggests the possibility of a further genetic locus for benign familial hematuria. 16235097 2005
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.130 GeneticVariation disease CLINVAR