STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4021280
Disease: Curved 4th toe phalanx
Curved 4th toe phalanx 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C1446787
Disease: Cramping sensation quality
Cramping sensation quality 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2019 2019
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases Disease or Syndrome 3 6 0.800 None 1.000 15 5 2013 2020
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 3 9 0.720 strong 1.000 12 9 2009 2017
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 8 0.600 None 1.000 4 6 2013 2015
CUI: C1303009
Disease: Microcoria, congenital
Microcoria, congenital 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality 3 2 0.010 None 1.000 1 1 2014 2014
CUI: C4751078
Disease: Onychomatricoma
Onychomatricoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C0701811
Disease: Poor short-term memory
Poor short-term memory 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 1 0.010 None < 0.001 1 2018 2018
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		disease Disease or Syndrome 5 2 0.010 None 1.000 1 2010 2010
CUI: C0020058
Disease: Howell-Jolly Bodies
Howell-Jolly Bodies 		disease Acquired Abnormality 5 0.100 None 0
CUI: C0020627
Disease: Hypopharyngeal Neoplasms
Hypopharyngeal Neoplasms 		group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C4021024
Disease: Muscle fiber tubular inclusions
Muscle fiber tubular inclusions 		phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		phenotype Finding 9 3 0.100 None 0
CUI: C0151854
Disease: Abnormal platelets
Abnormal platelets 		phenotype Hemic and Lymphatic Diseases Cell or Molecular Dysfunction 11 0.100 None 0
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 12 3 0.100 None 0 1
CUI: C3661489
Disease: Autosomal Dominant Myotubular Myopathy
Autosomal Dominant Myotubular Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 0
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.300 None 0
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		phenotype Finding 14 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis 		phenotype Finding 16 1 0.100 None 0 1
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.300 None 0
CUI: C3645536
Disease: Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Centronuclear Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.300 None 0
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		disease Eye Diseases Congenital Abnormality 19 1 0.100 None 0