Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033620
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		0.800 GeneticVariation UNIPROT B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. 9150740

1997
dbSNP: rs111033620
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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: rs111033620
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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: rs111033620
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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: rs111033620
rs111033620
IL2RG
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		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