Property Summary

NCBI Gene PubMed Count 381
PubMed Score 635.09
PubTator Score 469.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Frontotemporal dementia 51
Abnormal brain FDG positron emission tomography 9
Abnormal lower motor neuron morphology 6
Abnormality of pelvic girdle bone morphology 37
Age related macular degeneration 72
Aggressive behavior 75
Aggressive reaction 75
Alkaline phosphatase serum increased 29
Anxiety 136
Anxiety disease 113
Apathy 16
Bone pain 42
Bulbar palsy 19
Bulbar weakness 19
Cerebral atrophy 178
Collapse of vertebra 14
Compression fracture of vertebral column 14
Compulsive hoarding 7
Cortical white matter abnormalities seen on MRI 18
Cranial nerve palsies 11
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
EEG with continuous slow activity 7
EMG positive sharp waves 2
EMG: myopathic abnormalities 22
EMG: myotonic discharges 2
Early tooth exfoliation 17
Echolalia 12
Excess nuchal skin 30
Fatigable weakness of respiratory muscles 28
Fatigable weakness of swallowing muscles 28
Fatigue 182
Fatty replacement of skeletal muscle 3
Foot dorsiflexor weakness 27
Foot-drop 27
Forgetful 40
Frontotemporal cerebral atrophy 8
Gait, Drop Foot 24
Generalized muscle weakness 57
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydroxyprolinuria 7
Hyperorality 7
Hyperreflexia 209
Hypothyroidism 122
Increased susceptibility to fractures 21
Irritation - emotion 68
Language Disorders 13
Leukoaraiosis 18
Limited shoulder movement 3
Limited wrist extension 2
Long bone fractures 2
Long tract signs 3
Loss of speech 16
Lytic lesion 32
Memory Loss 40
Memory impairment 40
Mildly increased creatine kinase 20
Mood swings 77
Muscle Cramp 55
Muscle Spasticity 195
Muscle fiber inclusion bodies 4
Muscular fasciculation 22
Mutism 17
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Pain 103
Paralysed 42
Paraparesis 6
Personality change 23
Phenotypic variability 150
Physical aggression 76
Poor speech 37
Posterior fossa compression syndrome 2
Premature tooth loss 17
Problems speaking 37
Progressive disorder 142
Quadriparesis 8
Reflex, Ankle, Absent 8
Repeated speech 9
Respiratory Failure 104
Restlessness 14
Restrictive behavior 7
Restrictive behavior, interests, and activities 7
Rimmed vacuoles on biopsy 15
Shoulder girdle weakness 10
Shoulder weakness 10
Skeletal muscle atrophy 139
Social disinhibition 14
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Tibialis muscle weakness 2
Variation in muscle fiber size 16
Weakness of hip flexors 2
Xerostomia 42
muscle degeneration 139
Disease Target Count Z-score Confidence
Paget's disease of bone 36 6.926 3.5
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (15)

Disease log2 FC p
group 4 medulloblastoma -1.300 2.2e-03
hepatocellular carcinoma -1.500 1.1e-03
intraductal papillary-mucinous carcinoma... 1.200 1.6e-03
lung cancer -1.100 6.3e-04
malignant mesothelioma -1.500 3.7e-07
medulloblastoma, large-cell -1.900 4.6e-05
non-small cell lung cancer -1.042 4.4e-11
osteosarcoma -1.206 2.2e-03
ovarian cancer -1.300 1.1e-03
pancreatic ductal adenocarcinoma liver m... 1.692 9.0e-03
pituitary cancer -2.300 6.7e-07
psoriasis 1.400 4.9e-04
spina bifida -1.234 3.5e-02
subependymal giant cell astrocytoma 1.168 2.8e-02
tuberculosis -1.300 2.2e-09

Protein-protein Interaction (2)

Gene RIF (299)

AA Sequence

MASLTVKAYLLGKEDAAREIRRFSFCCSPEPEAEAEAAAGPGPCERLLSRVAALFPALRPGGFQAHYRDE      1 - 70
DGDLVAFSSDEELTMAMSYVKDDIFRIYIKEKKECRRDHRPPCAQEAPRNMVHPNVICDGCNGPVVGTRY     71 - 140
KCSVCPDYDLCSVCEGKGLHRGHTKLAFPSPFGHLSEGFSHSRWLRKVKHGHFGWPGWEMGPPGNWSPRP    141 - 210
PRAGEARPGPTAESASGPSEDPSVNFLKNVGESVAAALSPLGIEVDIDVEHGGKRSRLTPVSPESSSTEE    211 - 280
KSSSQPSSCCSDPSKPGGNVEGATQSLAEQMRKIALESEGRPEEQMESDNCSGGDDDWTHLSSKEVDPST    281 - 350
GELQSLQMPESEGPSSLDPSQEGPTGLKEAALYPHLPPEADPRLIESLSQMLSMGFSDEGGWLTRLLQTK    351 - 420
NYDIGAALDTIQYSKHPPPL                                                      421 - 440
//

Text Mined References (400)

PMID Year Title