IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		0.800 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		G 0.800 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs2834215
rs2834215
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		0.800 GeneticVariation GWASCAT A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
dbSNP: rs2834215
rs2834215
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		0.800 GeneticVariation GWASDB A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.800 GeneticVariation UNIPROT Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. 23963039 2013
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		G 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease 		G 0.800 GeneticVariation GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.800 GeneticVariation UNIPROT Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency. 22902943 2012
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.800 GeneticVariation UNIPROT Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140 2005
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection. 10608793 2000
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		A 0.800 CausalMutation CLINVAR
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0009324
Disease:
Ulcerative Colitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0008313
Disease:
Cholangitis, Sclerosing 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0038013
Disease:
Ankylosing spondylitis 		0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases 		G 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 2015
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0026769
Disease:
Multiple Sclerosis 		G 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
dbSNP: rs1196094724
rs1196094724
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.700 GeneticVariation UNIPROT
dbSNP: rs1243506079
rs1243506079
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		0.700 GeneticVariation UNIPROT
dbSNP: rs398122890
rs398122890
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		GTGACAA 0.700 CausalMutation CLINVAR
dbSNP: rs587776822
rs587776822
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776823
rs587776823
Entrez Id: 757;3460
Gene Symbol: TMEM50B;IFNGR2
TMEM50B;IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28 		A 0.700 CausalMutation CLINVAR