Property Summary

NCBI Gene PubMed Count 23
PubMed Score 268.81
PubTator Score 225.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal skeletal development 60
Abnormally-shaped vertebrae 31
Acrocephaly 12
Arnold Chiari Malformation 11
Asymmetry of the posterior cranium 20
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Bulging forehead 66
Cerebellar Hypoplasia 61
Cloverleaf skull 7
Conductive hearing loss 123
Congenital anomaly of face 56
Conjunctivitis 53
Conjunctivitis, recurrent 37
Convex nasal ridge 37
Craniofacial dysostosis type 1 2
Decreased joint mobility 53
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Distortion of face 46
Dysmorphic facies 46
Exophthalmos 112
Flat back of the head 26
Flat occiput 26
Flattening of cranial vault 20
Flattening of head 20
Frontal bossing 157
Funny looking face 46
High forehead 102
Hypoplasia of the maxilla 66
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Impaired cognition 96
Intracranial hypertension 32
Long narrow head 75
Low-set, posteriorly rotated ears 110
Malar flattening 129
Malformed pinnae 37
Maxillary retrognathia 66
Mental impairment 95
Midface retrusion 105
Multiple suture craniosynostosis 2
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Orbital separation excessive 244
Osteochondrodysplasias 72
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Posterior plagiocephaly 1
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Protruding eyes 96
Retrognathia 54
Retrusion of upper jaw bones 66
Rhomboid shaped head 20
Skull malformation 38
Small midface 105
Stomatocytosis Result 6
Strabismus 270
Syndactyly of fingers 48
Synostotic Posterior Plagiocephaly 8
Tall forehead 102
Turridolichocephaly 75
Wide skull shape 88
facial deformity 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (4)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 8.1e-05
group 4 medulloblastoma -1.600 3.7e-07
invasive ductal carcinoma -1.021 1.3e-02
psoriasis -1.300 4.0e-04

 GWAS Trait (1)

Gene RIF (10)

AA Sequence

MKTPADTGFAFPDWAYKPESSPGSRQIQLWHFILELLRKEEYQGVIAWQGDYGEFVIKDPDEVARLWGVR      1 - 70
KCKPQMNYDKLSRALRYYYNKRILHKTKGKRFTYKFNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGGS     71 - 140
HFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGEDPRARPPG    141 - 210
PPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPALPMTPTHLAYTPS    211 - 280
PTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQAHTQSVYNYHLSPRAFLHYPGLVVPQPQRPDKCPL    281 - 350
PPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKAVAGADKSGGSAGGLAEGAGALAPPP    351 - 420
PPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRAPPAPPKPEPGEAPGASQCMPLKLRFKRRWSE    421 - 490
DCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGGPLTPRRVSSDLQHATAQLSLEHRDS                491 - 548
//

Text Mined References (31)

PMID Year Title