Property Summary

Ligand Count 1
NCBI Gene PubMed Count 85
PubMed Score 980.17
PubTator Score 690.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Osteoporosis 363
Diarrhea 253
Abnormality of central somatosensory evoked potentials 1
Abnormality of cholesterol metabolism 3
Abnormality of the dentate nucleus 1
Abnormality of vision 40
Angina Pectoris 32
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Cataract 297
Cerebellar Ataxia 304
Cerebellar degeneration 103
Cerebral atrophy 178
Cholelithiasis 33
Degenerative brain disorder 100
Delusions 11
Dementia 175
Depressive disorder 409
Developmental regression 95
Dull intelligence 645
Dystonia 164
Dystonic disease 106
EEG with generalized slow activity 1
EMG: axonal abnormality 1
Epilepsy 792
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Eyelid Xanthoma 5
Hallucinations 34
Hallucinations, Sensory 33
Hypercholesterolemia 44
Hyperreflexia 209
Infratentorial atrophy 103
Intellectual disability 1016
Lens Opacities 231
Loss of developmental milestones 95
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Metabolic Bone Disorder 11
Muscle Spasticity 195
Muscle Weakness 170
Myocardial Infarction 151
Myoclonus 74
Neurodevelopmental regression 95
Neuropathy 261
Pallor of optic disc 39
Peripheral Neuropathy 134
Periventricular white matter abnormalities 8
Poor school performance 645
Pseudobulbar palsy 11
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Pyramidal sign 29
Respiratory Insufficiency 132
Respiratory function loss 121
Seizures 596
Serum cholesterol raised 22
Speech Disorders 58
Supratentorial atrophy 94
Tremor 113
Xanthelasma of periocular region 5
Xanthoma 5
Xanthoma of periocular region 5
Xanthoma tendinosum 4
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Cholera 34 5.938 3.0
Cancer 2499 3.839 1.9
Disease Target Count
Cerebrotendinous xanthomatosis 13

Expression

  Differential Expression (7)

Disease log2 FC p
active Crohn's disease -1.168 8.3e-03
lung adenocarcinoma -1.200 9.0e-06
lung cancer -1.300 2.9e-03
lung carcinoma -1.900 3.1e-19
non-small cell lung cancer -1.962 6.9e-24
pancreatic ductal adenocarcinoma liver m... -1.654 2.5e-02
psoriasis -1.100 1.2e-44

Gene RIF (69)

AA Sequence

MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFF      1 - 70
QLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQH     71 - 140
DLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFY    141 - 210
YFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFS    211 - 280
FGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYH    281 - 350
LSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK    351 - 420
NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLL    421 - 490
ARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC                                 491 - 531
//

Text Mined References (84)

PMID Year Title