COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Alport Syndrome, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		0.310 GeneticVariation disease BEFREE We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. 15954103 2005
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		0.310 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