IL2RG, interleukin 2 receptor subunit gamma, 3561

N. diseases: 164; N. variants: 42
Disease: X-Linked Combined Immunodeficiency Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. 21184155 2011
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. 22039266 2011
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. 17598841 2007
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins. 16760466 2006
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. 11213805 2000
dbSNP: rs869320660
rs869320660
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
CUI: C1279481
Disease:
X-Linked Combined Immunodeficiency Diseases 		T 0.700 CausalMutation CLINVAR Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 9058718 1997