IL23R, interleukin 23 receptor, 149233

N. diseases: 306; N. variants: 49
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
0.020 Biomarker group BEFREE Some IBD associated genes are involved in innate immunity, in the autophagy and in the inflammatory response such as NOD2, ATG16L1 and IL23R, while other are implicated in immune mediated disease (STAT3) and in susceptibility to mycobacterium infection (IL12B). 26604638 2015
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
0.020 Biomarker group BEFREE We describe the first patient, to our knowledge, with PCM and a well-defined primary immunodeficiency in the beta 1 subunit of the interleukin (IL)-12/IL-23 receptor, a disorder previously shown to be specifically associated with impaired interferon (IFN)-gamma production, mycobacteriosis, and salmonellosis. 16028144 2005