Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.330 Biomarker GENOMICS_ENGLAND A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. 26560041

2016