ITK, IL2 inducible T cell kinase, 3702

N. diseases: 117; N. variants: 12
Disease: LYMPHOPROLIFERATIVE SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908191
rs121908191
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1 		0.800 GeneticVariation UNIPROT Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
dbSNP: rs121908191
rs121908191
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514260
rs397514260
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397514261
rs397514261
Entrez Id: 3702
Gene Symbol: ITK
ITK
CUI: C3552634
Disease:
LYMPHOPROLIFERATIVE SYNDROME 1 		A 0.700 CausalMutation CLINVAR