Property Summary

NCBI Gene PubMed Count 93
PubMed Score 24.79
PubTator Score 41.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Amnesia 17 0.0 0.0
Auriculo-condylar syndrome 3 0.0 0.0
Disease Target Count
Absence of the condylar head of mandible 2
Absence of the condylar neck of mandible 2
Absence of the condylar process of mandible 2
Agenesis of condylar head of mandible 2
Agenesis of condylar neck of mandible 2
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anterior open-bite malocclusion 4
Apnea 45
Big calvaria 147
Capuchin ears 17
Cleft Palate 271
Cleft at the superior portion of the pinna 2
Cupped ears (finding) 17
Difficulty chewing 3
Failure of development of condylar head of mandible 2
Failure of development of condylar neck of mandible 2
Failure of development of the condylar process of mandible 2
Hypoplasia of condylar head of mandible 2
Hypoplasia of condylar neck of mandible 2
Hypoplasia of mandibular condyle 2
Hypoplastic superior helix 4
Hypotrophic condylar process of mandible 2
Hypotrophic mandibular condyle 2
Inadequate arch length for tooth size 45
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Low set ears 181
Malocclusion 57
Mandibular condyle aplasia 2
Overfolding of the superior helices 4
Postauricular skin tag 1
Posteriorly rotated ear 61
Preauricular skin tag 19
Round face 45
Round, full face 45
Skin tag on the posterior cheek 19
Small condylar head of mandible 2
Small condylar neck of mandible 2
Speech articulation difficulties 3
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Underdevelopment of condylar neck of mandible 2
Uranostaphyloschisis 167
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Mental Depression 333 0.0 1.7
Disease Target Count
Auriculocondylar Syndrome 1 2

Expression

  Differential Expression (21)

Disease log2 FC p
acute quadriplegic myopathy 1.154 3.6e-04
astrocytoma 1.300 1.9e-19
Astrocytoma, Pilocytic 1.100 6.0e-06
atypical teratoid / rhabdoid tumor 1.300 6.9e-06
Breast cancer 2.200 4.4e-02
dermatomyositis 1.300 3.1e-03
diabetes mellitus -1.100 1.3e-02
Duchenne muscular dystrophy 1.324 9.8e-07
ependymoma 1.600 1.8e-17
glioblastoma 1.400 8.7e-08
group 3 medulloblastoma 2.000 3.1e-05
juvenile dermatomyositis 1.468 4.5e-12
medulloblastoma, large-cell 1.500 4.3e-05
Multiple myeloma 1.884 4.5e-03
oligodendroglioma 1.100 6.5e-09
osteosarcoma 1.442 1.2e-03
ovarian cancer -1.100 2.5e-03
pediatric high grade glioma 1.700 3.6e-08
primitive neuroectodermal tumor 1.200 5.5e-04
psoriasis 1.500 2.0e-04
Waldenstrons macroglobulinemia 1.203 2.1e-02

 GWAS Trait (1)

Gene RIF (27)

AA Sequence

MGCTLSAEDKAAVERSKMIDRNLREDGEKAAKEVKLLLLGAGESGKSTIVKQMKIIHEDGYSEDECKQYK      1 - 70
VVVYSNTIQSIIAIIRAMGRLKIDFGEAARADDARQLFVLAGSAEEGVMTPELAGVIKRLWRDGGVQACF     71 - 140
SRSREYQLNDSASYYLNDLDRISQSNYIPTQQDVLRTRVKTTGIVETHFTFKDLYFKMFDVGGQRSERKK    141 - 210
WIHCFEGVTAIIFCVALSDYDLVLAEDEEMNRMHESMKLFDSICNNKWFTETSIILFLNKKDLFEEKIKR    211 - 280
SPLTICYPEYTGSNTYEEAAAYIQCQFEDLNRRKDTKEIYTHFTCATDTKNVQFVFDAVTDVIIKNNLKE    281 - 350
CGLY                                                                      351 - 354
//

Text Mined References (101)

PMID Year Title