SNAP25, synaptosome associated protein 25, 6616

N. diseases: 283; N. variants: 15
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: C0235055
Disease: Skeletal muscle paralysis
Skeletal muscle paralysis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2017 2017
Infection due to Clostridium chauvoei
disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0751898
Disease: Tic, Gestural
Tic, Gestural
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2006 2006
CUI: C0751899
Disease: Tic, Transient
Tic, Transient
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2006 2006
CUI: C0854069
Disease: Tumor pain
Tumor pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C0858547
Disease: Neuroparalysis
Neuroparalysis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4225364
Disease: MYASTHENIC SYNDROME, CONGENITAL, 18
MYASTHENIC SYNDROME, CONGENITAL, 18
disease Disease or Syndrome 2 1 0.600 strong 1.000 3 1 2014 2019
CUI: C0752251
Disease: Muscle Disease Manifestations
Muscle Disease Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.300 None 1.000 1 2006 2006
CUI: C0752252
Disease: Neuromuscular Manifestations
Neuromuscular Manifestations
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 2006 2006
Length-dependent peripheral neuropathy
disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0751901
Disease: Tic, Vocal
Tic, Vocal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 1 0.300 None 1.000 1 2006 2006
CUI: C0240958
Disease: sciatic nerve pain
sciatic nerve pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0.010 None 1.000 1 2017 2017
CUI: C0751900
Disease: Tic, Motor
Tic, Motor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2006 2006
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 8 1 0.100 None 0 1
CUI: C3698407
Disease: Peri-implant mucositis
Peri-implant mucositis
disease Stomatognathic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C4020898
Disease: Overactive bladder syndrome
Overactive bladder syndrome
disease Disease or Syndrome 9 0.010 None 1.000 1 2015 2015
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness
phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 10 0.100 None 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw
phenotype Finding 11 0.100 None 0
EMG: impaired neuromuscular transmission
phenotype Finding 11 0.100 None 0
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 12 2 0.100 None 0
Apneic episodes precipitated by illness, fatigue, stress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 12 0.100 None 0
CUI: C4280747
Disease: Choking episodes
Choking episodes
phenotype Pathologic Function 12 1 0.100 None 0
CUI: C0333047
Disease: Recession
Recession
disease Anatomical Abnormality 13 2 0.010 None 1.000 1 2018 2018
CUI: C3805054
Disease: Prodromal Alzheimer's disease
Prodromal Alzheimer's disease
disease Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2018 2018
CUI: C0033958
Disease: Psychosis, Brief Reactive
Psychosis, Brief Reactive
disease Mental Disorders Mental or Behavioral Dysfunction 14 0.300 None 1.000 1 2004 2004