IFNGR1, interferon gamma receptor 1, 3459

N. diseases: 153; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11575936
rs11575936
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C0155877
Disease:
Allergic asthma 		0.010 GeneticVariation BEFREE We investigated the association of IFNG (CA repeat polymorphism within the first intron), IRF1 (GT repeat polymorphism within the intron 7), IFNGR1 (Val 14 Met), and IFNGR2 (Gln 64 Arg) gene polymorphisms with atopic asthma in the Japanese child population. 11240951 2001
dbSNP: rs1887415
rs1887415
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C2607914
Disease:
Allergic rhinitis (disorder) 		0.010 GeneticVariation BEFREE The 6 patients with L467P have allergic diseases such as bronchial asthma and/or allergic rhinitis. 12851715 2003
dbSNP: rs1887415
rs1887415
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE The 6 patients with L467P have allergic diseases such as bronchial asthma and/or allergic rhinitis. 12851715 2003
dbSNP: rs2234711
rs2234711
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation 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
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4288927
Disease:
IFN-gamma Receptor 1 Deficiency 		G 0.700 CausalMutation CLINVAR A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 10192386 1999
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4288927
Disease:
IFN-gamma Receptor 1 Deficiency 		G 0.700 CausalMutation CLINVAR Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency. 18171304 2008
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4288927
Disease:
IFN-gamma Receptor 1 Deficiency 		G 0.700 CausalMutation CLINVAR Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. 20015550 2010
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4288927
Disease:
IFN-gamma Receptor 1 Deficiency 		G 0.700 CausalMutation CLINVAR Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor. 11583830 2001
dbSNP: rs11575936
rs11575936
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C1827849
Disease:
IgE-mediated allergic asthma 		0.010 GeneticVariation BEFREE We investigated the association of IFNG (CA repeat polymorphism within the first intron), IRF1 (GT repeat polymorphism within the intron 7), IFNGR1 (Val 14 Met), and IFNGR2 (Gln 64 Arg) gene polymorphisms with atopic asthma in the Japanese child population. 11240951 2001
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. 11139207 2001
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. 20186794 2010
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease. 27868075 2019
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. 16195661 2006
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. 20015550 2010
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. 16715106 2006
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 10811850 2000
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Two patients with complete defects in interferon gamma receptor-dependent signaling. 17514500 2007
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency. 25592983 2015
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. 15589309 2005
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database. 28744922 2017
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 9389728 1997
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Mendelian susceptibility to mycobacterial disease in egyptian children. 22708048 2012
dbSNP: rs104893974
rs104893974
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-gamma receptor 1 deficiency. 16715106 2006
dbSNP: rs104893974
rs104893974
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. 16195661 2006