COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Lenticonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239119
Disease: Lenticonus
Lenticonus 		0.110 GeneticVariation disease BEFREE Previous studies of X-linked Alport syndrome demonstrated that "severe" COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. 19965530 2010
CUI: C0239119
Disease: Lenticonus
Lenticonus 		0.110 Biomarker disease HPO
CUI: C0239119
Disease: Lenticonus
Lenticonus 		0.110 GeneticVariation disease CLINVAR