Property Summary

Ligand Count 161
NCBI Gene PubMed Count 312
PubMed Score 736.40
PubTator Score 506.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Frontotemporal dementia 51
Myopathy 185
Abnormal brain FDG positron emission tomography 9
Abnormal nerve conduction velocity 4
Abnormality of pelvic girdle bone morphology 37
Aggressive behavior 75
Aggressive reaction 75
Alexia 6
Alkaline phosphatase serum increased 29
Anxiety 136
Anxiety disease 113
Apraxias 27
Arthralgia 90
Babinski Reflex 100
Back Pain 7
Compulsive hoarding 7
Congenital pes cavus 88
Cortical white matter abnormalities seen on MRI 18
Creatine phosphokinase serum increased 110
Decreased lower limb vibratory sense 13
Depressive disorder 409
Developmental arithmetic disorder 8
Difficulty making arithmetical calculations 8
Difficulty walking up stairs 12
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Dysarthria 192
Dysgraphia 20
Dyslexia 43
Dysphasia 23
Dyspnea 76
Dystonia 164
Dystonic disease 106
EEG with continuous slow activity 7
EMG: neuropathic changes 15
Echolalia 12
Elevated creatine kinase 110
Excess nuchal skin 30
Fasciculation, Tongue 8
Fatigable weakness of respiratory muscles 28
Fatigable weakness of swallowing muscles 28
Fatigue 182
Forgetful 40
Frontal cortical atrophy 1
Frontotemporal cerebral atrophy 8
Gait abnormality 135
Gait imbalance 17
Generalized muscle weakness 57
Grammar-specific speech disorder 6
Hammer Toe 23
Hyperorality 7
Increased serum bone-specific alkaline phosphatase 4
Irritation - emotion 68
Leukoaraiosis 18
Limb fasciculations 1
Loss of speech 16
Lower limb hyperreflexia 10
Lumbar lordosis 35
Memory Loss 40
Memory impairment 40
Mood swings 77
Muscle Cramp 55
Muscle Spasticity 195
Muscle Weakness 170
Muscle weakness of limb 21
Muscular fasciculation 22
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
Pelvic girdle amyotrophy 2
Pelvic girdle muscle atrophy 3
Pelvic girdle weakness 7
Personality change 23
Physical aggression 76
Poor speech 37
Primary Progressive Nonfluent Aphasia 7
Problems speaking 37
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
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
Scapular weakness 23
Semantic Dementia 7
Shoulder girdle muscle atrophy 6
Shoulder girdle weakness 10
Shoulder weakness 10
Skeletal muscle atrophy 139
Social disinhibition 14
Spastic Paraplegia 42
Spastic gait 23
Spoken Word Recognition Deficit 6
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Temporal cortical atrophy 6
Winged scapula 23
Xerostomia 42
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (8)

Disease log2 FC p
astrocytoma 1.200 3.2e-03
Multiple myeloma 1.169 1.2e-03
osteosarcoma 1.107 2.0e-06
ovarian cancer 1.100 3.2e-05
pancreatic ductal adenocarcinoma liver m... -1.451 9.1e-03
Pick disease 1.400 4.7e-06
psoriasis 2.000 3.1e-05
Waldenstrons macroglobulinemia 1.060 4.0e-03

Protein-protein Interaction (6)

Gene RIF (230)

AA Sequence

MASGADSKGDDLSTAILKQKNRPNRLIVDEAINEDNSVVSLSQPKMDELQLFRGDTVLLKGKKRREAVCI      1 - 70
VLSDDTCSDEKIRMNRVVRNNLRVRLGDVISIQPCPDVKYGKRIHVLPIDDTVEGITGNLFEVYLKPYFL     71 - 140
EAYRPIRKGDIFLVRGGMRAVEFKVVETDPSPYCIVAPDTVIHCEGEPIKREDEEESLNEVGYDDIGGCR    141 - 210
KQLAQIKEMVELPLRHPALFKAIGVKPPRGILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAG    211 - 280
ESESNLRKAFEEAEKNAPAIIFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRP    281 - 350
NSIDPALRRFGRFDREVDIGIPDATGRLEILQIHTKNMKLADDVDLEQVANETHGHVGADLAALCSEAAL    351 - 420
QAIRKKMDLIDLEDETIDAEVMNSLAVTMDDFRWALSQSNPSALRETVVEVPQVTWEDIGGLEDVKRELQ    421 - 490
ELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKTLLAKAIANECQANFISIKGPELLTMWFGESEANVR    491 - 560
EIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRVINQILTEMDGMSTKKNVFIIGATNRPDIID    561 - 630
PAILRPGRLDQLIYIPLPDEKSRVAILKANLRKSPVAKDVDLEFLAKMTNGFSGADLTEICQRACKLAIR    631 - 700
ESIESEIRRERERQTNPSAMEVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTLQQSRGFGS    701 - 770
FRFPSGNQGGAGPSQGSGGGTGGSVYTEDNDDDLYG                                      771 - 806
//

Text Mined References (339)

PMID Year Title