STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.330 AlteredExpression disease BEFREE Here, we found that deficiency in the Ca<sup>2+</sup> sensor stromal interaction molecule 1 (STIM1) caused spontaneous activation of STING and enhanced expression of type I interferons under resting conditions in mice and a patient with combined immunodeficiency. 30643259 2019
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.330 GeneticVariation disease BEFREE Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. 29155098 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.330 Biomarker disease GENOMICS_ENGLAND A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. 26560041 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.330 GeneticVariation disease BEFREE Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. 27063589 2016