Property Summary

Ligand Count 13
NCBI Gene PubMed Count 386
PubMed Score 1658.55
PubTator Score 730.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormally small eyeball 97
Absent auditory canals 23
Absent external auditory canals 23
Agenesis of corpus callosum 83
Anophthalmos 13
Anterior pituitary hypoplasia 13
Atresia of the external auditory canal 23
Atretic auditory canal 23
Blepharoptosis 231
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Capuchin ears 17
Cataract 297
Cleft face 6
Cleft palate with cleft lip 23
Cleft uvula 27
Cognitive delay 608
Coloboma of iris 38
Congenital Epicanthus 177
Corneal diameter decreased 47
Cryptorchidism 296
Cupped ears (finding) 17
Decreased projection of midface 105
Decreased size of eyeball 97
Degenerative polyarthritis 115
Delayed CNS myelination 6
Diabetes insipidus 18
Diaphragmatic Hernia 40
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Exophthalmos 112
Fleshy upturned lobules 3
Frias syndrome 2
Fundus coloboma 18
Global developmental delay 608
High forehead 102
Hypoplasia of scrotum 24
Hypoplastic mandible condyle 275
Hypotonia, severe 33
Hypotrophic malar bone 129
Hypotrophic midface 105
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 1
Macrotia 87
Malar flattening 129
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mental and motor retardation 608
Microcornea 47
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Muscle hypotonia 571
Optic nerve aplasia 3
Oral cleft 18
Orbital separation excessive 244
Pituitary hypoplasia 23
Posteriorly rotated ear 61
Preauricular skin tag 19
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Rheumatoid arthritis 1191
Short stature 531
Single transverse palmar crease 29
Skin tag on the posterior cheek 19
Small midface 105
Syndactyly of the toes 45
Tall forehead 102
Thin hypoplastic alae nasi 51
Unilateral agenesis of kidney 20
Wide skull shape 88
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Microphthalmia 76 3.776 1.9
Disease Target Count
14q22q23 microdeletion syndrome 2

Expression

  Differential Expression (10)

Disease log2 FC p
active ulcerative colitis 1.572 1.4e-02
atypical teratoid / rhabdoid tumor 2.000 2.4e-02
colon cancer 1.600 3.8e-04
cutaneous lupus erythematosus -1.200 3.4e-03
cystic fibrosis -1.948 1.5e-06
interstitial lung disease 1.400 1.5e-02
lung cancer 2.200 1.3e-05
malignant mesothelioma 2.900 1.4e-08
osteosarcoma 1.696 1.6e-04
ovarian cancer -2.400 8.7e-15

Protein-protein Interaction (7)

Gene RIF (307)

AA Sequence

MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRR      1 - 70
PQPSKSAVIPDYMRDLYRLQSGEEEEEQIHSTGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRF     71 - 140
LFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVT    141 - 210
RWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGR    211 - 280
GHALTRRRRAKRSPKHHSQRARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLN    281 - 350
STNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR                351 - 408
//

Text Mined References (386)

PMID Year Title