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:

rs111033622

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:

rs111033622

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:

rs137852510

IL2RG ; CXorf65

0.800

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

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

8088810

1994

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

8027558

1994

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

7937790

1994

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

8299698

1994

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

8027558

1994

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

8299698

1994

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

8088810

1994

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

7937790

1994

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

8027558

1994

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

7937790

1994

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

8088810

1994

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

8299698

1994

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

8088810

1994

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

7937790

1994

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

8027558

1994

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

8299698

1994

dbSNP:

rs111033617

IL2RG ; CXorf65

0.800

GeneticVariation

UNIPROT

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

8401490

1993

dbSNP:

rs111033620

IL2RG

0.800

GeneticVariation

UNIPROT

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

8401490

1993

dbSNP:

rs111033621

IL2RG

0.800

GeneticVariation

UNIPROT

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

8401490

1993

dbSNP:

rs111033622

IL2RG

0.800

GeneticVariation

UNIPROT

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

8401490

1993

dbSNP:

rs1057521062

IL2RG

0.710

GeneticVariation

UNIPROT