rs111033618, IL2RG

N. diseases: 4
Disease: X-Linked Combined Immunodeficiency Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
0.810 GeneticVariation BEFREE As early diagnosis and treatment are important, a high index of suspicion in the diagnosis of c.664C>T (p.R222C) X-SCID is needed. 29948574 2018
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
0.810 GeneticVariation UNIPROT An interleukin-2 receptor gamma chain mutation with normal thymus morphology. 9399950 1997
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
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
X-Linked Combined Immunodeficiency Diseases
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
0.810 CausalMutation CLINVAR