COL4A4, collagen type IV alpha 4 chain, 1286

N. diseases: 53; N. variants: 101
Disease: Alport syndrome, recessive type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		0.500 Biomarker disease MGD A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers. 24522496 2014
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		0.500 Biomarker disease MGD Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis. 21196518 2011
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		0.500 Biomarker disease CTD_human