DisGeNET - a database of gene-disease associations

IFNGR1, interferon gamma receptor 1, 3459

N. diseases: 153; N. variants: 30

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

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

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

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

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

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

Entrez Id:	3459
Gene Symbol:	IFNGR1

IFNGR1

CUI:	C4011949
Disease:

IMMUNODEFICIENCY 27A

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

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

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

Entrez Id:	3459
Gene Symbol:	IFNGR1

IFNGR1

CUI:	C1834752
Disease:

MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

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

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:

rs104893974

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:

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:

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

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

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

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:

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:

rs104893974

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