Property Summary

NCBI Gene PubMed Count 250
PubMed Score 619.83
PubTator Score 543.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of cardiovascular system morphology 22
Acquired scoliosis 274
Apathy 16
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 4
Big calvaria 147
Broad flat nasal bridge 232
Bushy eyebrows 48
Cerebellar Ataxia 302
Cerebellar hypoplasia and atrophy 39
Choroid Plexus Carcinoma 5
Coarse facial features 103
Cognitive delay 596
Concave bridge of nose 191
Congenital deafness 180
Cryptorchidism 287
Curvature of spine 275
Dandy-Walker Syndrome 35
Deafness 193
Decreased joint mobility 53
Delayed eruption of permanent teeth 8
Dental abnormalities 57
Depressed nasal bridge 191
Depressed nasal ridge 48
Depressed nasal root/bridge 191
Disturbance of consciousness 12
Dull intelligence 634
Epilepsy 775
Feeding difficulties 127
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Full lower lip 61
Generalized hirsutism 33
Global developmental delay 596
Hearing Loss, Partial 180
Hemiplegia and hemiparesis 33
Hydrocephalus 148
Hypoplastic fifth fingernail 4
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 174
Intellectual disability 998
Intermittent migraine headaches 66
Intrauterine retardation 174
Irritation - emotion 67
Joint hyperflexibility 76
Long eyelashes 36
Low intelligence 634
Macrostomia 70
Malignant neoplasm of central nervous system 1
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Migraine Disorders 74
Muscle Weakness 168
Muscle hypotonia 562
Nasal bridge wide 232
Nausea and vomiting 93
Neurofibromatosis 3 4
Nystagmus 309
Patella aplasia-hypoplasia 11
Poor school performance 634
Prominent lower lip 61
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 1
Recurrent respiratory infections 138
Seizures 584
Short distal phalanges 49
Short stature 514
Slow-growing hair 18
Small head 366
Sparse hair 59
Strabismus 265
Thickened facial skin with coarse facial features 103
Thin, sparse hair 59
Tooth Abnormalities 66
hearing impairment 194
medulloblastoma 702
Disease Target Count Z-score Confidence
Neurilemmomatosis 5 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2388 5.17 2.6
Hypotrichosis 45 0.0 4.0
Disease Target Count Z-score Confidence
Neurilemmoma 23 5.679 2.8
Neurofibromatosis 40 3.819 1.9
Myoepithelioma 12 3.462 1.7

Expression

  Differential Expression (10)

Disease log2 FC p
atypical teratoid/rhabdoid tumor -1.300 5.6e-04
ependymoma 1.100 7.5e-03
group 3 medulloblastoma 1.100 1.1e-02
lung cancer 1.500 1.1e-03
malignant mesothelioma 1.500 4.0e-06
medulloblastoma, large-cell 1.100 2.0e-04
oligodendroglioma 1.200 2.5e-03
osteosarcoma 2.347 1.7e-08
ovarian cancer -1.100 3.3e-05
psoriasis -1.900 7.6e-05

Gene RIF (235)

AA Sequence

MMMMALSKTFGQKPVKFQLEDDGEFYMIGSEVGNYLRMFRGSLYKRYPSLWRRLATVEERKKIVASSHGK      1 - 70
KTKPNTKDHGYTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSH     71 - 140
HLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENASQPEVLVPIRLDMEIDGQKLRDAFTWNMNE    141 - 210
KLMTPEMFSEILCDDLDLNPLTFVPAIASAIRQQIESYPTDSILEDQSDQRVIIKLNIHVGNISLVDQFE    211 - 280
WDMSEKENSPEKFALKLCSELGLGGEFVTTIAYSIRGQLSWHQKTYAFSENPLPTVEIAIRNTGDADQWC    281 - 350
PLLETLTDAEMEKKIRDQDRNTRRMRRLANTAPAW                                       351 - 385
//

Text Mined References (257)

PMID Year Title