COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Disease: Ehlers-Danlos syndrome type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.310 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
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.310 GeneticVariation disease BEFREE A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 9783710 1998