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 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