DisGeNET - a database of gene-disease associations

X-Linked Combined Immunodeficiency Diseases, C1279481

Gene: IL2RG ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs111033618

IL2RG

0.810

GeneticVariation

UNIPROT

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

9399950

1997

dbSNP:

rs111033618

IL2RG

0.810

GeneticVariation

UNIPROT

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

7883965

1995

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

9049783

1997

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

9150740

1997

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

9150740

1997

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

9049783

1997

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

9150740

1997

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

9049783

1997

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

9150740

1997

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

9049783

1997

dbSNP:

rs137852510

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

9399950

1997

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

8900089

1996

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

8900089

1996

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

8900089

1996

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

8900089

1996

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

7557965

1995

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

7668284

1995

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

7860773

1995

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

7860773

1995

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

7557965

1995

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

7668284

1995

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

7557965

1995

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

7860773

1995

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

7668284

1995

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

7860773

1995