COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Legg-Calve-Perthes Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease 		0.820 GeneticVariation BEFREE A new type II collagenopathy, caused by the p.Gly1170Ser mutation of COL2A1, which presents as premature hip osteoarthritis (OA), avascular necrosis of the femoral head (ANFH) or Legg-Calvé-Perthes (LCP) disease, was recently found in several families with an inherited disease of the hip joint. 20204389 2010
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease 		0.820 GeneticVariation UNIPROT A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 17394019 2007
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease 		0.820 GeneticVariation BEFREE We have located a missense mutation (p.G1170S) in the type II collagen gene (COL2A1) in a Japanese family with an autosomal dominant hip disorder manifesting as LCPD and showing considerable intra-familial phenotypic variation. 17394019 2007
dbSNP: rs121912891
rs121912891
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease:
Legg-Calve-Perthes Disease 		T 0.820 CausalMutation CLINVAR