rs121912891, COL2A1

N. diseases: 5
Disease: Legg-Calve-Perthes Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Legg-Calve-Perthes Disease
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
Legg-Calve-Perthes Disease
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
Legg-Calve-Perthes Disease
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
Legg-Calve-Perthes Disease
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
0.820 CausalMutation CLINVAR