COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532 1997
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs67525025
rs67525025
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993