Property Summary

NCBI Gene PubMed Count 22
PubMed Score 28.32
PubTator Score 14.41

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Intellectual disability 1016 0.0 0.0
Lathosterolosis 1 0.0 0.0
Liver diseases 87 0.0 0.0
Disease Target Count
Abnormality of the thoracic spine 1
Anisopoikilocytosis 4
Anteverted nostril 191
Arnold Chiari Malformation 11
Autosomal recessive predisposition 1442
Biparietal narrowing 28
Blepharoptosis 231
Bulbous nasal tip 48
Bulbous nose 48
Byzanthine arch palate 194
Cataract 297
Cerebellar cortical atrophy 1
Cerebral calcification 43
Chubby cheeks 50
Cloudy cornea 33
Cognitive delay 608
Congenital Epicanthus 177
Congenital deafness 185
Congenital hypoplasia of penis 176
Corneal diameter decreased 47
Corneal stromal opacities 33
Deafness 198
Decreased platelet count 111
Decreased width of the skull 28
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Epilepsy 792
Failure to gain weight 365
Fetal Growth Retardation 189
Fibular polydactyly 12
Full cheeks 50
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Hearing Loss, Partial 185
Hepatomegaly 285
Horseshoe Kidney 16
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypoplastic mandible condyle 275
Increased mean platelet volume 6
Infant, Small for Gestational Age 176
Intrahepatic cholestasis 20
Intrauterine retardation 176
Lens Opacities 231
Liver Failure 73
Long philtrum 137
Lumbosacral meningocele 1
Mandibular hypoplasia 275
Meningocele 11
Mental and motor retardation 608
Microcornea 47
Micrognathism 275
Muscle hypotonia 571
Myoclonus 74
Narrow forehead 34
Pediatric failure to thrive 365
Platelet morphology abnormal 9
Postaxial foot polydactyly 12
Potato nose 48
Prominent metopic ridge 15
Puffy cheeks 50
Seizures 596
Short nose 132
Sloping forehead 46
Small head 374
Small nose 132
Specific learning disability 47
Syndactyly of the toes 45
Talipes 20
Talipes foot deformities 20
Thrombocytopenia 197
Ulnar polydactyly of fingers 47
hearing impairment 199

Expression

  Differential Expression (11)

Disease log2 FC p
active Crohn's disease 1.078 2.2e-03
group 4 medulloblastoma -1.200 9.2e-04
inflammatory breast cancer -1.200 1.5e-03
interstitial cystitis -2.000 2.5e-04
lung adenocarcinoma 1.028 1.8e-03
malignant mesothelioma 1.500 1.2e-05
medulloblastoma, large-cell -1.600 5.5e-04
ovarian cancer 1.200 1.7e-02
pancreatic ductal adenocarcinoma liver m... -2.806 1.4e-03
Pick disease -1.100 8.5e-04
tuberculosis -2.400 1.3e-06

Gene RIF (5)

AA Sequence

MDLVLRVADYYFFTPYVYPATWPEDDIFRQAISLLIVTNVGAYILYFFCATLSYYFVFDHALMKHPQFLK      1 - 70
NQVRREIKFTVQALPWISILTVALFLLEIRGYSKLHDDLGEFPYGLFELVVSIISFLFFTDMFIYWIHRG     71 - 140
LHHRLVYKRLHKPHHIWKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHD    141 - 210
GDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKNPSSFEGKGPLSYVKEMTEGKRSSH    211 - 280
SGNGCKNEKLFNGEFTKTE                                                       281 - 299
//

Text Mined References (23)

PMID Year Title