Property Summary

NCBI Gene PubMed Count 82
PubMed Score 379.97
PubTator Score 178.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Herpesviridae Infections 3 0.0 0.0
Zlotogora-Ogur syndrome 1 0.0 0.0
Disease Target Count
Cleft Lip 141
Cleft Palate 271
Abnormal philtrum 1
Abnormality of hair consistency 5
Abnormality of hair curl pattern 5
Abnormality of hair texture 5
Abnormality of hair volume 5
Alopecia 115
Autosomal recessive predisposition 1442
Bilateral single transverse palmar creases 34
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Cleft lip and alveolus 4
Cleft palate and bilateral cleft lip 4
Cleft palate with cleft lip 23
Congenital ear anomaly NOS (disorder) 29
Cutaneous finger syndactyly 11
Decreased projection of midface 105
Decreased size of teeth 62
Decreased width of tooth 59
Dental abnormalities 60
Dental caries 164
Depressed cheekbone 22
Developmental absence of tooth 7
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophic fingernails 18
Dystrophic toenail changes 12
Ectodermal Dysplasia 14
Flattening of the zygomatic bone 22
Hypodontia 81
Hypogonadism 173
Hypoplasia of scrotum 24
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypotrichosis, progressive 1
Hypotrophic cheekbone 22
Hypotrophic malar bone 129
Hypotrophic midface 105
Intellectual disability 1016
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Laterally sparse eyebrows 12
Low intelligence 645
Macrotia 87
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Midface retrusion 105
Missing all teeth 3
Nail dysplasia 52
Nasal bridge wide 236
Palmoplantar keratosis 74
Pili Torti 6
Poor school performance 645
Prominent ear 56
Protruding ears 56
Recurrent respiratory infections 141
Rotting teeth 73
Small cheekbone 22
Small midface 105
Soft tissue syndactyly of toes 3
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Speech Disorders 58
Syndactyly of fingers 48
Syndactyly of the toes 45
Synophrys 40
Thick, flared eyebrows 41
Thin, sparse hair 59
Tooth Abnormalities 69
Triangular face 58
Uranostaphyloschisis 167
Wide spaced nipples 46
Disease Target Count P-value
non-small cell lung cancer 2890 8.7e-15
ependymoma 4679 4.0e-12
osteosarcoma 7950 4.3e-04
lung cancer 4740 8.0e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (4)

Disease log2 FC p
ependymoma -1.100 4.0e-12
lung cancer 2.700 8.0e-04
non-small cell lung cancer 1.187 8.7e-15
osteosarcoma -1.370 4.3e-04

Protein-protein Interaction (1)

Gene RIF (57)

AA Sequence

MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKS      1 - 70
TNGSKQNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNL     71 - 140
TVMAKPTNWIEGTQAVLRAKKGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISR    141 - 210
YRLVPSREAHQQSLACIVNYHMDRFKESLTLNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEY    211 - 280
HWTTLNGSLPKGVEAQNRTLFFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAG    281 - 350
PVPTAIIGGVAGSILLVLIVVGGIVVALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPD    351 - 420
DSDDEKKAGPLGGSSYEEEEEEEEGGGGGERKVGGPHPKYDEDAKRPYFTVDEAEARQDGYGDRTLGYQY    421 - 490
DPEQLDLAENMVSQNDGSFISKKEWYV                                               491 - 517
//

Text Mined References (89)

PMID Year Title