COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Focal glomerulosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 Biomarker disease BEFREE Pathogenic variants in COL4A3, COL4A4, or COL4A5 genes have been frequently identified in patients with histologic diagnosis of FSGS. 31254113 2019
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.310 Biomarker disease GENOMICS_ENGLAND Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome. 29270492 2017