Property Summary

NCBI Gene PubMed Count 188
PubMed Score 166.50
PubTator Score 230.07

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Brachydactyly 154
Pseudohypoparathyroidism 18
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 1
Abnormality of female external genitalia 7
Abnormality of immune system physiology 16
Abnormally-shaped vertebrae 31
Absent/hypoplastic paranasal sinuses 5
Acquired scoliosis 274
Advanced bone age 34
Anteverted nostril 186
Autistic Disorder 358
Blonde hair 7
Brachycephaly 86
Broad cranium shape 86
Broad flat nasal bridge 232
Cerebrovascular accident 60
Class III malocclusion 75
Cognitive delay 596
Concave bridge of nose 191
Cone-shaped epiphyses 24
Congenital craniofacial dysostosis 2
Congenital deafness 180
Congenital hypoplasia of radius 23
Congenital hypothyroidism 25
Cryptorchidism 287
Curvature of spine 275
Deafness 193
Decreased projection of maxilla 65
Decreased projection of midface 104
Deficiency of upper jaw bones 65
Delayed speech and language development 110
Depressed nasal bridge 191
Depressed nasal ridge 48
Depressed nasal root/bridge 191
Depressive disorder 401
Dull intelligence 634
Elevated calcitonin 3
Fair hair 7
Fetal Growth Retardation 186
Global developmental delay 596
Hearing Loss, Partial 180
Hyperactive behavior 90
Hyperphosphatemia (disorder) 16
Hypertrophy of lower jaw 75
Hypocalcemia 32
Hypogonadism 169
Hypoplasia of the maxilla 65
Hypoplasia of the nasal bone 2
Hypoplastic toes 29
Hypoplastic vertebral bodies 7
Hypotrophic malar bone 129
Hypotrophic maxilla 65
Hypotrophic midface 104
Increased serum parathyroid hormone 13
Increased size of mandible 75
Infant, Small for Gestational Age 174
Intellectual disability 998
Intracranial hypertension 30
Intrauterine retardation 174
Isolated somatotropin deficiency 28
Language Delay 110
Late tooth eruption 59
Low intelligence 634
Malar flattening 129
Mandibular hyperplasia 75
Maxillary retrognathia 65
Mental Depression 325
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micromelia 58
Midface retrusion 104
Nail Diseases 23
Nail abnormality 21
Narrow interpedicular space 4
Nasal bridge wide 232
Neuropathy 254
Obesity 655
Open mouth 44
Orbital separation excessive 240
Penile hypospadias 102
Peripheral Neuropathy 131
Poor school performance 634
Prenatal onset 137
Radial ray hypoplasia 23
Red hair 5
Relative short stature 13
Retrusion of upper jaw bones 65
Round face 43
Round, full face 43
SERUM PHOSPHATE ELEVATED 14
Schizophrenia 1136
Short metacarpal 42
Short metatarsal 20
Short nose 127
Short phalanx of finger 31
Short stature 514
Short stature, mild 13
Short ulnae 24
Small midface 104
Small nose 127
Specific learning disability 46
Speech Delay 110
Speech impairment 110
Spinal canal stenosis 11
Stippled epiphyses 28
Thrombosis of cerebral veins 5
ULNAR HYPOPLASIA 24
Wide skull shape 86
blue iris (physical finding) 17
diabetes mellitus 1683
hearing impairment 194
mandibular excess (physical finding) 75
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.7

Expression

  Differential Expression (23)

Disease log2 FC p
adrenocortical carcinoma 1.048 3.7e-02
adult high grade glioma -1.800 2.1e-05
astrocytic glioma -1.300 6.9e-03
Astrocytoma, Pilocytic -1.100 3.6e-05
atypical teratoid / rhabdoid tumor 1.200 3.6e-02
colon cancer -1.400 4.4e-02
Crohn's disease -1.066 3.2e-03
glioblastoma -1.300 7.2e-07
hepatocellular carcinoma -1.300 1.7e-03
interstitial lung disease -1.300 4.2e-02
intraductal papillary-mucinous adenoma (... 1.500 3.1e-03
intraductal papillary-mucinous carcinoma... 1.300 8.6e-04
intraductal papillary-mucinous neoplasm ... 1.300 3.4e-04
lung cancer 2.100 1.3e-04
medulloblastoma, large-cell -1.500 3.3e-02
non primary Sjogren syndrome sicca -1.200 2.7e-02
non-small cell lung cancer -1.028 1.0e-11
pancreatic cancer -1.100 6.6e-03
pancreatic carcinoma -1.100 6.6e-03
primitive neuroectodermal tumor -1.500 7.6e-03
psoriasis -1.100 1.3e-02
tuberculosis -1.700 2.1e-05
ulcerative colitis -1.311 6.0e-04

Protein-protein Interaction (1)

Gene RIF (158)

AA Sequence

MEAEGSSAPARAGSGEGSDSAGGATLKAPKHLWRHEQHHQYPLRQPQFRLLHPHHHLPPPPPPSPQPQPQ      1 - 70
CPLQPPPPPPLPPPPPPPGAARGRYASSGATGRVRHRGYSDTERYLYCRAMDRTSYAVETGHRPGLKKSR     71 - 140
MSWPSSFQGLRRFDVDNGTSAGRSPLDPMTSPGSGLILQANFVHSQRRESFLYRSDSDYDLSPKSMSRNS    141 - 210
SIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTNLQDRAPSKRSPMCNQPSINKATITEEAYQKLASET    211 - 280
LEELDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSRSGNQVSEFISNTFLDKQHEVEIPSPT    281 - 350
QKEKEKKKRPMSQISGVKKLMHSSSLTNSSIPRFGVKTEQEDVLAKELEDVNKWGLHVFRIAELSGNRPL    351 - 420
TVIMHTIFQERDLLKTFKIPVDTLITYLMTLEDHYHADVAYHNNIHAADVVQSTHVLLSTPALEAVFTDL    421 - 490
EILAAIFASAIHDVDHPGVSNQFLINTNSELALMYNDSSVLENHHLAVGFKLLQEENCDIFQNLTKKQRQ    491 - 560
SLRKMVIDIVLATDMSKHMNLLADLKTMVETKKVTSSGVLLLDNYSDRIQVLQNMVHCADLSNPTKPLQL    561 - 630
YRQWTDRIMEEFFRQGDRERERGMEISPMCDKHNASVEKSQVGFIDYIVHPLWETWADLVHPDAQDILDT    631 - 700
LEDNREWYQSTIPQSPSPAPDDPEEGRQGQTEKFQFELTLEEDGESDTEKDSGSQVEEDTSCSDSKTLCT    701 - 770
QDSESTEIPLDEQVEEEAVGEEEESQPEACVIDDRSPDT                                   771 - 809
//

Text Mined References (201)

PMID Year Title