COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Ehlers-Danlos syndrome, cardiac valvular form ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		0.600 Biomarker disease GENOMICS_ENGLAND Lessons on the pathogenesis of aneurysm from heritable conditions. 21593863 2011
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		0.600 GermlineCausalMutation disease ORPHANET 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: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		0.600 GermlineCausalMutation disease ORPHANET Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 15077201 2004
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		0.600 Biomarker disease CTD_human Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 15077201 2004
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		0.600 Biomarker disease GENOMICS_ENGLAND