Property Summary

NCBI Gene PubMed Count 463
PubMed Score 8025.58
PubTator Score 670.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Craniosynostosis 74
Abnormality of pelvic girdle bone morphology 37
Abnormality of skull shape 3
Abnormality of the antihelix 10
Abnormality of the nasolacrimal system 2
Absent first metatarsal 2
Acrocephaly 12
Asymmetrical skull 3
Asymmetry of the posterior cranium 20
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Blepharospasm 13
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad forehead 59
Broad hallux 29
Bunion 26
CLEFT CHIN 9
CRANIOSYNOSTOSIS 4 3
Cleft Palate 271
Concave bridge of nose 195
Congenital Heart Defects 58
Congenital deafness 185
Congenital heart disease 93
Congenital small ears 48
Convex nasal bridge 57
Convex nasal ridge 37
Coronal craniosynostosis 14
Curvature of little finger 110
Deafness 198
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Exophthalmos 112
Facial asymmetry 32
Flat face 52
Flat forehead 5
Flattening of cranial vault 20
Flattening of head 20
Frontal bossing 157
Globe of eye large 20
Hallucal duplication 3
Hallux Valgus 26
Hearing Loss, Partial 185
High forehead 102
Highly variable severity 157
Hydrophthalmos 19
Hypoplasia of the maxilla 66
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Intracranial hypertension 32
Ki-1+ Anaplastic Large Cell Lymphoma 4
Late fontanel closure 28
Long narrow head 75
Long nose 15
Lordosis 54
Low anterior hairline 30
Low set ears 181
Malar flattening 129
Malformation of skull shape 3
Malformed pinnae 37
Maxillary retrognathia 66
Moderate mental retardation (I.Q. 35-49) 28
Narrow cranium shape 75
Narrow head shape 75
Narrow internal auditory canal 8
Narrow nose 20
Narrow palate 20
Narrow skull shape 75
Open Bite 21
Orbital separation excessive 244
Partial duplication of the distal phalanx of the 2nd finger 2
Partial duplication of the distal phalanx of the 3rd finger 2
Partial/complete duplication of the phalanges of the hallux 3
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Prominent crus of helix 3
Prominent eyes 96
Prominent globes 96
Prominent nasal bridge 57
Protruding eyes 96
Radioulnar synostosis 35
Retrusion of upper jaw bones 66
Rhomboid shaped head 20
Shallow orbits 13
Short stature 531
Skull malformation 38
Strabismus 270
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostotic Posterior Plagiocephaly 8
Tall forehead 102
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Uranostaphyloschisis 167
Variable expressivity 157
Visual field defects 19
Wide skull shape 88
breast carcinoma 1638
hearing impairment 199
Disease Target Count Z-score Confidence
Brain infarction 22 0.0 3.0

Expression

  Differential Expression (18)

Disease log2 FC p
breast carcinoma -1.500 1.8e-04
acute quadriplegic myopathy 1.176 9.4e-03
adrenocortical carcinoma 2.218 3.6e-05
atypical teratoid/rhabdoid tumor 1.500 4.4e-02
Breast cancer 1.300 3.3e-03
ductal carcinoma in situ -1.500 2.3e-02
fibroadenoma -2.600 2.3e-04
group 3 medulloblastoma 3.100 1.6e-05
intraductal papillary-mucinous adenoma (... -1.300 3.6e-03
intraductal papillary-mucinous carcinoma... -1.100 1.4e-02
invasive ductal carcinoma -2.100 3.3e-03
lung cancer 2.600 2.0e-05
non-small cell lung cancer 1.948 9.4e-10
ovarian cancer -2.100 7.0e-05
pancreatic cancer 1.400 1.2e-03
pituitary cancer -2.300 4.7e-06
psoriasis -1.100 4.9e-04
ulcerative colitis 2.500 7.0e-04

 GO Component (2)

Gene RIF (438)

AA Sequence

MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPA      1 - 70
QGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPS     71 - 140
DKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH            141 - 202
//

Text Mined References (463)

PMID Year Title