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: 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: rs104893974
rs104893974
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: rs121912715
rs121912715
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 IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database. 28744922 2017
dbSNP: rs104893974
rs104893974
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: rs121912715
rs121912715
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 Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency. 25592983 2015
dbSNP: rs104893974
rs104893974
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: rs121912715
rs121912715
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 		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 Mendelian susceptibility to mycobacterial disease in egyptian children. 22708048 2012
dbSNP: rs121912715
rs121912715
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: 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 Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. 20015550 2010
dbSNP: rs104893974
rs104893974
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: rs104893974
rs104893974
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: rs121912715
rs121912715
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: rs121912715
rs121912715
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 Two patients with complete defects in interferon gamma receptor-dependent signaling. 17514500 2007
dbSNP: rs104893974
rs104893974
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: rs121912715
rs121912715
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 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 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 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