COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Kidney Failure, Chronic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.030 GeneticVariation disease BEFREE Mutations in the COL4A5 collagen gene have been implicated as the primary defect in Alport syndrome, a heritable disorder characterized by sensorineural deafness and glomerulonephritis that progresses to end-stage renal failure. 1635348 1992
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.030 GeneticVariation disease BEFREE A novel COL4A5 mutation causes rapid progression to end-stage renal disease in males, despite the absence of clinical and biopsy findings associated with Alport syndrome. 20881942 2011
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.030 GeneticVariation disease BEFREE The most frequent new genetic diagnoses were COL4A5 mutations underlying familial haematuria and familial end stage renal disease. 28177086 2017