COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 Biomarker phenotype GENOMICS_ENGLAND The clinical spectrum of type IV collagen mutations. 9195222 1997
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 GeneticVariation phenotype BEFREE The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end-stage renal failure in juvenile age and hypoacusis occurring in most cases. 8599366 1995
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.410 CausalMutation phenotype CLINVAR