COL4A4, collagen type IV alpha 4 chain, 1286

N. diseases: 53; N. variants: 101
Disease: Alport syndrome, dominant type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type 		0.300 GermlineCausalMutation disease ORPHANET Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. 19129241 2009
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type 		0.300 GermlineCausalMutation disease ORPHANET Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. 15086897 2004
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type 		0.300 GermlineCausalMutation disease ORPHANET Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. 11572889 2001
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type 		0.300 GermlineCausalMutation disease ORPHANET Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). 9269635 1997