EBNA1BP2, EBNA1 binding protein 2, 10969

N. diseases: 116; N. variants: 2
Disease: Mycobacterium Infections ×
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 GeneticVariation group BEFREE Interleukin (IL)-12 is composed of p35 and p40 subunits; in this case, IL-12p40 deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease. 28723869 2018
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		0.020 Biomarker group BEFREE Recently, recessive mutations in the interferon-gamma-receptor receptor ligand-binding chain, interferon-gamma-receptor signalling chain, IL-12 p40 subunit and IL-12-receptor beta 1 chain genes have been identified in a number of patients with disseminated mycobacterial infection. 9722917 1998