STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Stormorken Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 AlteredExpression disease BEFREE Abnormal activation of STIM1 directly influences Ca<sup>2+</sup> influx, resulting in severe diseases such as Stormorken syndrome. 31831524 2020
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE Conversely, gain-of-function (GOF) mutations in ORAI1 and STIM1 are associated with tubular aggregate myopathy (TAM) and Stormorken syndrome due to constitutive CRAC channel activation. 31009822 2019
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE Genetic testing revealed that both mother and son carried a missense mutation of c.326A>G in exon 3 of the STIM1 gene, which is novel for Stormorken syndrome. 30761937 2019
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE Overactive SOCE results in excessive extracellular Ca2+ entry due to dominant STIM1 or ORAI1 mutations and has been associated with tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). 30576443 2019
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE The genetically inherited Stormorken syndrome disease has been associated with the STIM1 single point R304W mutant. 29483506 2018
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE We established a mouse line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome to explore effects on organ and cell physiology. 30390422 2018
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 28624464 2017
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND This study reports a novel STIM1 mutation located in the Ca<sup>2+</sup>-binding EF domain causing TAM with features of Stormorken syndrome. 27876257 2017
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE This study reports a novel STIM1 mutation located in the Ca<sup>2+</sup>-binding EF domain causing TAM with features of Stormorken syndrome. 27876257 2017
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. 25577287 2015
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 Biomarker disease BEFREE These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. 25577287 2015
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. 25577287 2015
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease UNIPROT These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS. 25577287 2015
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 25044882 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation. 24591628 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GermlineCausalMutation disease ORPHANET Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation. 24591628 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 25044882 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease UNIPROT Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. 24619930 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease BEFREE Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation. 24591628 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. 24619930 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 AlteredExpression disease BEFREE Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients. 24619930 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 CausalMutation disease CLINVAR Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 24570283 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 GeneticVariation disease UNIPROT Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation. 24591628 2014
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 23332920 2013