STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 28624464 2017
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 25577287 2015
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 25044882 2014
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 24591628 2014
dbSNP: rs483352867
rs483352867
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C2748557
Disease:
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		T 0.700 CausalMutation CLINVAR A dominant STIM1 mutation causes Stormorken syndrome. 24619930 2014