Property Summary

NCBI Gene PubMed Count 120
PubMed Score 269.86
PubTator Score 157.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Frontotemporal dementia 51
Abnormal brain FDG positron emission tomography 9
Abnormal skeletal development 60
Abnormal upper motor neuron morphology 11
Abnormality of adipose tissue 3
Abnormality of epiphysis morphology 39
Aggressive behavior 75
Aggressive reaction 75
Agnosia 3
Alexia 6
Anxiety 136
Anxiety disease 113
Apraxias 27
Arthralgia 90
Autosomal recessive predisposition 1442
Axonal loss 7
Babinski Reflex 100
Basal ganglia calcification 27
Bone Cysts 12
Bone pain 42
Caudate atrophy 3
Cerebral atrophy 178
Cerebral calcification 43
Chorea 29
Choreatic disease 52
Compulsive hoarding 7
Cortical white matter abnormalities seen on MRI 18
Decreased bone mineral density Z score 31
Decreased joint mobility 53
Defective or absent horizontal voluntary eye movements 25
Degenerative brain disorder 100
Dementia of frontal lobe type 6
Depressive disorder 409
Developmental arithmetic disorder 8
Developmental regression 95
Difficulty making arithmetical calculations 8
Dilated ventricles (finding) 121
Dysgraphia 20
Dyslexia 43
Dysphasia 23
Dyspnea 76
EEG with continuous slow activity 7
Echolalia 12
Electroencephalogram abnormal 101
Epilepsy 792
Excess nuchal skin 30
Fatigable weakness of respiratory muscles 28
Fatigable weakness of swallowing muscles 28
Fatigue 182
Foot Deformities 30
Forgetful 40
Frontotemporal cerebral atrophy 8
Gait abnormality 135
Generalized muscle weakness 57
Gliosis 56
Grammar-specific speech disorder 6
Hand deformities 32
Hyperorality 7
Hypoplasia of corpus callosum 90
Irritation - emotion 68
Leukoaraiosis 18
Leukoencephalopathies 29
Loss of developmental milestones 95
Loss of speech 16
Memory Loss 40
Memory impairment 40
Mental deterioration in childhood 95
Mood swings 77
Muscle Cramp 55
Muscle Spasticity 195
Myoclonus 74
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Oculomotor apraxia 25
Osteochondrodysplasias 72
Pain 103
Paralysed 42
Pathological fracture 20
Peripheral demyelination 16
Personality change 23
Physical aggression 76
Poor speech 37
Primary Progressive Nonfluent Aphasia 7
Primitive reflexes (palmomental, snout, glabellar) 7
Problems speaking 37
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Repeated speech 9
Respiratory Failure 104
Restlessness 14
Restrictive behavior 7
Restrictive behavior, interests, and activities 7
Seizures 596
Semantic Dementia 7
Skeletal muscle atrophy 139
Social disinhibition 14
Speech Disorders 58
Spoken Word Recognition Deficit 6
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Supratentorial atrophy 94
Temporal cortical atrophy 6
Urinary Incontinence 50
Xerostomia 42
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (12)

Disease log2 FC p
adult high grade glioma 1.200 1.3e-02
astrocytoma 2.200 5.5e-03
Astrocytoma, Pilocytic 1.300 3.2e-07
cutaneous lupus erythematosus 1.300 1.7e-03
ductal carcinoma in situ 1.200 2.3e-02
glioblastoma 3.300 5.4e-04
group 3 medulloblastoma -1.100 5.6e-03
invasive ductal carcinoma 1.706 5.7e-06
lung carcinoma -1.400 7.2e-07
osteosarcoma 2.764 9.8e-05
psoriasis 1.100 4.5e-04
subependymal giant cell astrocytoma 2.310 8.1e-03

Protein-protein Interaction (4)

Gene RIF (116)

AA Sequence

MEPLRLLILLFVTELSGAHNTTVFQGVAGQSLQVSCPYDSMKHWGRRKAWCRQLGEKGPCQRVVSTHNLW      1 - 70
LLSFLRRWNGSTAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGSEADTLRKVLVEVLADPLDHRDAGD     71 - 140
LWFPGESESFEDAHVEHSISRSLLEGEIPFPPTSILLLLACIFLIKILAASALWAAAWHGQKPGTHPPSE    141 - 210
LDCGHDPGYQLQTLPGLRDT                                                      211 - 230
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Text Mined References (120)

PMID Year Title