Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 Biomarker disease GENOMICS_ENGLAND Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 GeneticVariation disease UNIPROT Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 21671384 2011
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 GermlineCausalMutation disease ORPHANET Type II collagen gene variants and inherited osteonecrosis of the femoral head. 15930420 2005
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 GeneticVariation disease UNIPROT Type II collagen gene variants and inherited osteonecrosis of the femoral head. 15930420 2005
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 Biomarker disease GENOMICS_ENGLAND Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. 2543071 1989
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 GeneticVariation disease CLINVAR
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 CausalMutation disease CLINVAR
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
0.700 Biomarker disease GENOMICS_ENGLAND