COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Renal Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 GeneticVariation disease BEFREE The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m<sup>2</sup>), bilateral hearing loss, and central and peripheral retinopathies. 27485810 2017
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 CausalMutation disease CLINVAR
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.110 Biomarker disease HPO