Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chronic multifocal osteomyelitis
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
0.010 GeneticVariation BEFREE In one patient with chronic multifocal osteomyelitis a heterozygous missense variant: c.281G>T (p.Cys94Phe) was detected. 22032624 2012