VAPB, VAMP associated protein B and C, 9217

N. diseases: 55; N. variants: 3
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.
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.730 None 0.941 17 2 2004 2019
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
disease Nervous System Diseases Disease or Syndrome 1 1 0.600 None 1.000 11 1 2004 2016
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
disease Nervous System Diseases Disease or Syndrome 1 1 0.600 moderate 1.000 2 1 2004 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.500 None 0.967 30 3 2004 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.120 None 1.000 2 1 2013 2019
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.110 None 1.000 1 2007 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
disease Nervous System Diseases Disease or Syndrome 186 52 0.100 None 1.000 10 1 2004 2019
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
Fatigable weakness of swallowing muscles
phenotype Finding 39 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 0
CUI: C0234378
Disease: Static Tremor
Static Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 62 3 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
Neuronal loss in central nervous system
phenotype Finding 37 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0
AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL
disease Finding 1 1 0.100 None 0 1
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE
phenotype Finding 117 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes
phenotype Finding 28 5 0.100 None 0
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
Fatigable weakness of respiratory muscles
phenotype Finding 60 0.100 None 0
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0