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
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.200 Biomarker disease MGD IFN-gamma affects homing of diabetogenic T cells. 11714835 2001
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.200 Biomarker disease MGD Interferon-gamma receptor signaling is dispensable in the development of autoimmune type 1 diabetes in NOD mice. 11118001 2000
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease BEFREE Eight functional SNPs were associated with anti-TNF response either among patients with CD (TLR5 (rs5744174) and IFNGR2 (rs8126756)), UC (IL12B (rs3212217), IL18 (rs1946518), IFNGR1 (rs2234711), TBX21 (rs17250932) and JAK2 (rs12343867)) or in the combined cohort of patient with CD and UC (IBD) (NLRP3 (rs10754558), IL12B (rs3212217) and IFNGR1 (rs2234711)) (P<0.05). 28139755 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease BEFREE We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASDB A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASCAT A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.120 GeneticVariation disease GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.110 GeneticVariation disease BEFREE Eight functional SNPs were associated with anti-TNF response either among patients with CD (TLR5 (rs5744174) and IFNGR2 (rs8126756)), UC (IL12B (rs3212217), IL18 (rs1946518), IFNGR1 (rs2234711), TBX21 (rs17250932) and JAK2 (rs12343867)) or in the combined cohort of patient with CD and UC (IBD) (NLRP3 (rs10754558), IL12B (rs3212217) and IFNGR1 (rs2234711)) (P<0.05). 28139755 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.110 GeneticVariation group BEFREE Eight functional SNPs were associated with anti-TNF response either among patients with CD (TLR5 (rs5744174) and IFNGR2 (rs8126756)), UC (IL12B (rs3212217), IL18 (rs1946518), IFNGR1 (rs2234711), TBX21 (rs17250932) and JAK2 (rs12343867)) or in the combined cohort of patient with CD and UC (IBD) (NLRP3 (rs10754558), IL12B (rs3212217) and IFNGR1 (rs2234711)) (P<0.05). 28139755 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.110 GeneticVariation group GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.110 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.110 GeneticVariation group GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.110 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.110 Biomarker disease BEFREE Genotypes for IFNG, IFNGR1 and IFNGR2 were determined in 509 patients with MS and in 193 healthy controls. 15182327 2004