COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Disease: Ehlers-Danlos syndrome classic type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225429
Disease: Ehlers-Danlos syndrome classic type
Ehlers-Danlos syndrome classic type 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 9425231 1998