Property Summary

NCBI Gene PubMed Count 417
PubMed Score 2392.26
PubTator Score 1295.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Osteoporosis 363
Osteosclerosis 31
Abnormal facility in opposing the shoulders 1
Abnormal skeletal development 60
Abnormality of the metacarpal bones 17
Abnormality of the ribs 32
Abnormality of the sacrum 5
Absent frontal sinuses 8
Absent paranasal sinuses 1
Acquired scoliosis 281
Aplasia of frontal sinus 8
Aplastic clavicles 6
Brachydactyly 156
Byzanthine arch palate 194
CLEFT CHIN 9
Cervical rib 4
Chronic otitis media 52
Class III malocclusion 78
Cleft Palate 271
Concave bridge of nose 195
Cone-shaped epiphyses of phalanges 15
Congenital deafness 185
Congenital hypoplasia of clavicle 18
Convex nasal ridge 37
Curvature of spine 282
Deafness 198
Decreased calcification of skull 10
Decreased pneumatization of frontal sinus 6
Decreased projection of maxilla 66
Decreased projection of midface 105
Defect of skull ossification 10
Defective enamel matrix 35
Defective tooth enamel 31
Deficiency of upper jaw bones 66
Degenerative polyarthritis 115
Delayed eruption of permanent teeth 8
Delayed eruption of primary teeth 10
Delayed maturation fo pubic bone 3
Delayed mineralization of pubic bone 3
Delayed pubic bone ossification 3
Dental Enamel Hypoplasia 43
Dental caries 164
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dysplasia of tooth enamel 35
Dystrophic tooth enamel 31
Early tooth exfoliation 17
Enamel abnormalities 31
Flattening of the zygomatic bone 22
Frontal bossing 157
Hearing Loss, Partial 185
High, narrow palate 32
Hip joint varus deformity - observation 24
Hyperkyphosis 111
Hyperplasia of foramen magnum 6
Hypertrophy of lower jaw 78
Hypoplasia of the maxilla 66
Hypoplasia of the zygomatic bone 22
Hypoplastic frontal sinuses 6
Hypoplastic iliac wing 19
Hypoplastic inferior ilia 3
Hypoplastic mandible condyle 275
Hypoplastic scapulae 14
Hypotrophic cheekbone 22
Hypotrophic frontal sinus 6
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Increased size of mandible 78
Increased susceptibility to fractures 21
Increased thickness of cranium 17
Kyphosis deformity of spine 114
Large bregma sutures 46
Large fontanelle 46
Large foramen magnum 6
Large, late-closing fontanelle 46
Late tooth eruption 61
Long second metacarpal 1
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 1
Malar flattening 129
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Maxillary retrognathia 66
Micrognathism 275
Midface retrusion 105
Missing sinuses 1
Narrow palate 20
Narrow thorax 53
Open Bite 21
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteoporosis of vertebrae 5
Paranasal Sinus Diseases 34
Paranasal sinus aplasia 1
Parietal bossing 5
Persistent open anterior fontanelle 3
Platyspondyly 56
Premature tooth loss 17
Pyle metaphyseal dysplasia 8
Recurrent respiratory infections 141
Respiratory Distress Syndrome 15
Retrusion of upper jaw bones 66
Rheumatoid arthritis 1191
Rotting teeth 73
Short 5th metacarpal 5
Short face 4
Short femoral neck 15
Short middle phalanx of the 2nd finger 2
Short middle phalanx of the 5th finger 13
Short philtrum 53
Short ribs 30
Short stature 531
Short stature, moderate 3
Sinusitis 65
Sloping forehead 46
Sloping shoulders 21
Small cheekbone 22
Small midface 105
Spina bifida occulta 19
Splayed metaphyses 19
Spondylolisthesis 22
Spondylolysis 14
Structure of wormian bone 24
Syringomyelia 15
Thickened calvaria 17
Thin dental enamel 35
Thin lips 49
Tooth, Supernumerary 7
Uranostaphyloschisis 167
Wide bregma sutures 46
Wide pubic symphysis 3
ear infection chronic 52
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count
Cleidocranial dysostosis 1

Expression

  Differential Expression (21)

Disease log2 FC p
osteosarcoma 1.957 1.4e-03
active Crohn's disease 1.317 9.8e-03
adult high grade glioma 1.500 3.8e-02
Astrocytoma, Pilocytic 2.400 9.8e-07
chronic lymphosyte leukemia -1.400 9.2e-10
ductal carcinoma in situ 1.900 2.3e-02
ependymoma 1.400 6.8e-03
glioblastoma 1.300 1.4e-02
group 4 medulloblastoma -1.600 5.4e-03
invasive ductal carcinoma 1.922 1.8e-03
lung adenocarcinoma 1.100 1.2e-13
mucosa-associated lymphoid tissue lympho... -1.018 1.2e-02
non-small cell lung cancer 1.411 1.2e-10
ovarian cancer 3.800 5.1e-05
pancreatic cancer 1.800 1.2e-03
primary pancreatic ductal adenocarcinoma 2.217 4.5e-04
sarcoidosis 1.700 1.4e-02
subependymal giant cell astrocytoma 2.516 3.5e-03
tuberculosis -1.200 1.5e-05
ulcerative colitis 2.500 3.8e-06
X-linked cerebral adrenoleukodystrophy 2.100 4.9e-02

Gene RIF (376)

AA Sequence

MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQ      1 - 70
QEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAF     71 - 140
KVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQV    141 - 210
ATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQ    211 - 280
GQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFC    281 - 350
LWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT    351 - 420
YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQ    421 - 490
NDGVDADGSHSSSPTVLNSSGRMDESVWRPY                                           491 - 521
//

Text Mined References (421)

PMID Year Title