Property Summary

NCBI Gene PubMed Count 157
PubMed Score 479.96
PubTator Score 412.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Glaucoma 239
Aniridia 25
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 21
Abnormality of cardiovascular system morphology 23
Abnormality of the abdominal wall 10
Abnormality of the conjunctiva 2
Abnormally prominent line of Schwalbe 2
Anterior chamber anomalies 4
Anus, Imperforate 46
Aplasia/Hypoplasia of the iris 10
Autosomal recessive predisposition 1442
Axenfeld anomaly (disorder) 3
Broad flat nasal bridge 236
Clouding of corneal stroma 50
Congenital Heart Defects 58
Congenital anomaly of face 56
Congenital deafness 185
Congenital keratoglobus 14
Corneal Opacity 53
Corneal abnormalities 6
Corneal diameter decreased 47
Corneal diameter increased 13
Cornela disease 6
Deafness 198
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Dental abnormalities 60
Distortion of face 46
Dysmorphic facies 46
Embryotoxon 28
Everted lower lip vermilion 54
Funny looking face 46
Hearing Loss, Partial 185
Highly variable severity 157
Hydrophthalmos 19
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypodontia 81
Hypoplasia of iris 10
Hypoplasia of the maxilla 66
Hypoplastic iris stoma 4
Hypotrophic maxilla 66
Hypotrophic midface 105
IRIDOGONIODYSGENESIS, TYPE 2 1
Irido-corneo-trabecular dysgenesis (disorder) 10
Isolated somatotropin deficiency 30
Maxillary retrognathia 66
Microcornea 47
Midface retrusion 105
Nasal bridge wide 236
Penile hypospadias 106
Pigmentary iris degeneration 20
Polycoria 1
Posterior embryotoxon 28
Prominent supraorbital ridges 19
Protruding lower lip 54
Retrusion of upper jaw bones 66
Rieger syndrome 8
Short philtrum 53
Small midface 105
Strabismus 270
Stricture of anus 13
Thin upper lip vermilion 67
Variable expressivity 157
facial deformity 46
hearing impairment 199
Disease Target Count Z-score Confidence
Corneal disease 31 0.0 4.0
Disease Target Count
Axenfeld-Rieger syndrome 14

Expression

  Differential Expression (9)

Disease log2 FC p
interstitial cystitis -1.100 1.0e-02
lung cancer 1.200 1.6e-02
medulloblastoma, large-cell 2.600 5.3e-03
non-small cell lung cancer 1.142 9.2e-07
pituitary cancer 2.700 1.0e-07
psoriasis -1.200 2.7e-23
sonic hedgehog group medulloblastoma 1.800 3.5e-03
spina bifida -2.096 3.4e-02
ulcerative colitis -3.200 3.3e-04

Protein-protein Interaction (3)

Gene RIF (129)

AA Sequence

METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANEKDKSQQGK      1 - 70
NEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKW     71 - 140
RKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSM    141 - 210
FSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSS    211 - 280
LASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV                                     281 - 317
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Text Mined References (158)

PMID Year Title