COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Disease: Ehlers-Danlos syndrome type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1 		0.500 Biomarker disease MGD Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. 25987251 2015
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1 		0.500 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