Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.030 GeneticVariation disease BEFREE Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency. 28521627 2017
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.030 GeneticVariation disease BEFREE In this study, we demonstrated the first coiled-coil domain (CCD) mutation of c.749G>C, p.G250A (G250A) in STAT1 as a genetic cause of AD-MSMD in a patient with mycobacterial multiple osteomyelitis. 27856304 2017
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.030 GeneticVariation disease BEFREE Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis. 23585529 2013