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 The most frequent new genetic diagnoses were COL4A5 mutations underlying familial haematuria and familial end stage renal disease. 28177086 2017
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 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