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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0 1
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 12 3 0.100 None 0 1
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 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: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		phenotype Finding 25 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype Finding 74 5 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0 1
CUI: C1864580
Disease: Type 2 muscle fiber atrophy
Type 2 muscle fiber atrophy 		phenotype Finding 14 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0 1
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0 1
CUI: C0034150
Disease: Purpura
Purpura 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0