Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GeneticVariation phenotype BEFREE The present study revealed that a heterozygous c.3508G>A mutation in the COL2A1 gene was involved in ANFH development in one Chinese family. 29750297 2018
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GeneticVariation phenotype BEFREE We conclude that a mutation in the COL2A1 gene is the causative agent of ONFH in this family. 25050885 2014
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GeneticVariation phenotype BEFREE In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. 24949742 2014
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GeneticVariation phenotype 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
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GermlineCausalMutation phenotype ORPHANET All the patients with familial ANFH whom we studied carried COL2A1 mutations. 15930420 2005
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 GeneticVariation phenotype BEFREE No mutation was found in the COL2A1 coding region in sporadic cases of ANFH. 15930420 2005
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 Biomarker phenotype CTD_human
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
0.650 Biomarker phenotype GENOMICS_ENGLAND