IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Disease: IMMUNODEFICIENCY 28 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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