rs121912891, COL2A1

N. diseases: 5
Disease: Avascular Necrosis of Femur Head ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Avascular Necrosis of Femur Head
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
0.020 GeneticVariation BEFREE Therefore, it is proposed that individuals who carry this c.3508G>A mutation in the COL2A1 gene should receive genetic counseling and early intervention for ANFH. 29750297 2018
Avascular Necrosis of Femur Head
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
0.020 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