Disease: Autoinflammatory disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 Biomarker disease BEFREE A leucine-to-proline missense mutation at residue 98 in the proline-serine-threonine phosphatase interacting protein 2 (Pstpip2) gene leads to autoinflammatory disease that is characterized by splenomegaly, necrosis, and spontaneous development of osteomyelitis in mice (Pstpip2<sup>cmo</sup>). 27148834 2016