Property Summary

Ligand Count 42
NCBI Gene PubMed Count 68
PubMed Score 848.01
PubTator Score 79.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Arthralgia 90
Arthritis 290
Autosomal recessive predisposition 1442
Bell Palsy 58
Cherry red spot of the macula 7
Chronic schizophrenia 16
Curvature of spine 282
Decreased muscle mass 28
Degeneration of anterior horn cells 7
Dementia 175
Difficulty walking 28
Dull intelligence 645
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Epilepsies, Myoclonic 32
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Fasciculation, Tongue 8
Frequent falls 12
Gait abnormality 135
Generalized myoclonic seizures 30
Gowers sign 24
Gowers sign present 24
Hepatomegaly 285
Highly variable severity 157
Hoarse cry 5
Hyperkyphosis 111
Intellectual disability 1016
Irritation - emotion 68
Jankovic Rivera syndrome 1
Joint stiffness 84
Joint swelling 26
Kyphosis deformity of spine 114
Laryngomalacia 14
Lipogranuloma 1
Lipoidosis 19
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Motor delay 147
Myoclonic Epilepsies, Progressive 44
Myoclonus 74
No development of motor milestones 147
Nystagmus 317
Osteoporosis 363
Pediatric failure to thrive 365
Periarticular subcutaneous nodules 2
Poor school performance 645
Progressive disorder 142
Progressive distal muscular atrophy 2
Recurrent respiratory infections 141
Reflex, Deep Tendon, Absent 92
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Schizophrenia 1160
Short stature 531
Speech Disorders 58
Spinal muscular atrophy 34
Splenomegaly 190
Tremor 113
Variable expressivity 157
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Obesity 678 0.0 2.8
Disease Target Count Z-score Confidence
Epilepsy 792 0.0 4.0
Neurodegenerative disease 414 0.0 4.0
Disease Target Count
Farber's lipogranulomatosis 1

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytoma 1.400 2.5e-02
Astrocytoma, Pilocytic 1.200 3.0e-06
Atopic dermatitis -1.200 2.4e-03
dermatomyositis 1.100 2.0e-04
ependymoma 1.500 4.8e-08
glioblastoma 1.100 1.1e-02
lung cancer -1.500 1.0e-04
malignant mesothelioma -1.800 6.6e-07
non primary Sjogren syndrome sicca 1.200 2.9e-02
non-small cell lung cancer -1.123 1.5e-12
osteosarcoma 2.399 3.2e-04
ovarian cancer -2.200 1.4e-07
subependymal giant cell astrocytoma 1.749 1.0e-02

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (44)

AA Sequence

MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKA      1 - 70
PVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELF     71 - 140
TICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGM    141 - 210
LTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAY    211 - 280
FILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENIS    281 - 350
FETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW                             351 - 395
//

Text Mined References (78)

PMID Year Title