IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 Biomarker disease GENOMICS_ENGLAND Mendelian susceptibility to mycobacterial disease: 2014-2018 update. 30264912 2019
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 GeneticVariation disease UNIPROT Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. 23963039 2013
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 GeneticVariation disease UNIPROT Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency. 22902943 2012
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 GeneticVariation disease UNIPROT Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140 2005
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 GeneticVariation disease UNIPROT Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection. 10608793 2000
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 Biomarker disease CTD_human
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28
0.700 CausalMutation disease CLINVAR