Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.030 GeneticVariation disease BEFREE Loss-of-function mutations in stromal interaction molecule 1 (STIM1) impair the activation of Ca<sup>2+</sup> release-activated Ca<sup>2+</sup> (CRAC) channels and store-operated Ca<sup>2+</sup> entry (SOCE), resulting in a disease syndrome called CRAC channelopathy that is characterized by severe dental enamel defects. 28352661 2017
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.030 GeneticVariation disease BEFREE York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 25577287 2015
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
0.030 Biomarker disease BEFREE Loss-of-function mutations in the human ORAI1 and STIM1 genes abolish CRAC channel function and SOCE in a variety of non-excitable cells including lymphocytes and other immune cells, resulting in a unique clinical syndrome termed CRAC channelopathy. 22615435 2012