COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Alport Syndrome, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant 		0.300 Biomarker disease GENOMICS_ENGLAND "X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a ""European Community Alport Syndrome Concerted Action"" study." 14514738 2003