ECSIT, ECSIT signaling integrator, 51295

N. diseases: 4; N. variants: 2
Disease: Hemophagocytic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145036301
rs145036301
Entrez Id: 51295
Gene Symbol: ECSIT
ECSIT
CUI: C3887558
Disease:
Hemophagocytic Syndrome 		0.010 GeneticVariation BEFREE Recurrent ECSIT mutation encoding V140A triggers hyperinflammation and promotes hemophagocytic syndrome in extranodal NK/T cell lymphoma. 29291352 2018