MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Avascular necrosis of bone ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		0.010 GeneticVariation phenotype BEFREE An inherited risk for thrombosis, including mutant thermolabile variant of methylenetetrahydrofolate reductase (MTHFR), factor V Leiden, or prothrombin may be the co-factor(s) for avascular necrosis (AVN) in patients with sickle cell disease. 11146461 2000