COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.400 Biomarker disease GENOMICS_ENGLAND Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023 2006
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.400 CausalMutation disease CLINVAR