Property Summary

NCBI Gene PubMed Count 72
PubMed Score 54.38
PubTator Score 67.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal brain FDG positron emission tomography 9
Absent reflex 92
Absent tendon reflex 92
Adult onset 82
Aggressive behavior 75
Aggressive reaction 75
Alexia 6
Amyotrophic Lateral Sclerosis, Chmp2B-Related 1
Anxiety 136
Anxiety disease 113
Apathy 16
Apraxias 27
Astrocytosis 4
Babinski Reflex 100
Bulbar signs 4
Cerebral atrophy 178
Compulsive hoarding 7
Cortical white matter abnormalities seen on MRI 18
Decreased tendon reflex 122
Deglutition Disorders 132
Depressive disorder 409
Developmental arithmetic disorder 8
Difficulty making arithmetical calculations 8
Dysarthria 192
Dysgraphia 20
Dyslexia 43
Dysphasia 23
Dyspnea 76
Dystonia 164
Dystonic disease 106
EEG with continuous slow activity 7
Echolalia 12
Excess nuchal skin 30
Fatigable weakness of respiratory muscles 28
Fatigable weakness of swallowing muscles 28
Fatigue 182
Forgetful 40
Frontal release signs 3
Frontotemporal cerebral atrophy 8
Gait abnormality 135
Generalized muscle weakness 57
Grammar-specific speech disorder 6
Hyperorality 7
Hyperreflexia 209
Irritation - emotion 68
Leukoaraiosis 18
Loss of speech 16
Memory Loss 40
Memory impairment 40
Mood swings 77
Muscle Cramp 55
Muscle Rigidity 49
Muscle Spasticity 195
Muscular fasciculation 22
Mutism 17
Myoclonus 74
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuronal loss 25
Pain 103
Paralysed 42
Personality change 23
Physical aggression 76
Poor speech 37
Primary Progressive Nonfluent Aphasia 7
Problems speaking 37
Rapidly progressive 27
Rapidly progressive disorder 27
Reflex, Deep Tendon, Absent 92
Repeated speech 9
Respiratory Failure 104
Respiratory insufficiency due to muscle weakness 37
Restlessness 14
Restrictive behavior 7
Restrictive behavior, interests, and activities 7
Semantic Dementia 7
Skeletal muscle atrophy 139
Social disinhibition 14
Spoken Word Recognition Deficit 6
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Temporal cortical atrophy 6
Urinary Incontinence 50
Xerostomia 42
lingual-facial-buccal dyskinesia 13
muscle degeneration 139
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 2.7
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
Disease Target Count Z-score Confidence
Dementia 175 4.502 2.3
Progressive muscular atrophy 7 3.224 1.6
Aphasia 26 3.116 1.6

Expression

  Differential Expression (10)

Disease log2 FC p
progressive supranuclear palsy -1.600 2.1e-02
dermatomyositis 1.300 6.0e-04
intraductal papillary-mucinous neoplasm ... 1.600 7.6e-03
lung cancer 1.100 6.9e-03
medulloblastoma, large-cell -1.600 6.7e-04
Multiple myeloma 1.587 4.8e-03
ovarian cancer -1.800 6.6e-04
primary pancreatic ductal adenocarcinoma 1.139 2.0e-02
psoriasis 1.100 7.1e-04
spina bifida -1.713 4.4e-02

 MGI Phenotype (1)

Gene RIF (38)

AA Sequence

MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRK      1 - 70
QKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEE     71 - 140
MINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKAL    141 - 210
GVD                                                                       211 - 213
//

Text Mined References (80)

PMID Year Title