Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		disease 0.800 None 1.000 7 5 2013 2020
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C2748557
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 		disease 0.720 strong 1.000 7 9 2009 2017
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		disease 0.700 None 1.000 6 4 2013 2020
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		disease 0.600 None 1.000 0 6 2013 2015
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C4021280
Disease: Curved 4th toe phalanx
Curved 4th toe phalanx 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0014877
Disease: Esotropia
Esotropia 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		stromal interaction molecule 1 0.501 0.808 0.78
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1