COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Anterior lenticonus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344262
Disease: Anterior lenticonus
Anterior lenticonus 		0.110 GeneticVariation disease BEFREE Our findings demonstrated that normal anterior lens capsules express all of the alpha(IV) chains and that a patient with anterior lenticonus associated with Alport syndrome had a mutation in the COL4A5 gene resulting in the lack of immunoreactivity to alpha3(IV) to alpha6(IV) chains in the anterior lens capsule. 12796257 2003
CUI: C0344262
Disease: Anterior lenticonus
Anterior lenticonus 		0.110 Biomarker disease HPO