Property Summary

NCBI Gene PubMed Count 72
PubMed Score 349.62
PubTator Score 107.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
11 pairs of ribs 7
Absent auditory canals 23
Absent external auditory canals 23
Acquired scoliosis 281
Anomalous rib insertion to vertebrae 1
Anomalous tracheal cartilage 2
Atresia of the external auditory canal 23
Atretic auditory canal 23
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Bilateral fifth finger clinodactyly 110
Byzanthine arch palate 194
Calcaneal epiphyseal stippling 1
Cleft Palate 271
Cleft Soft Palate 7
Conductive hearing loss 123
Congenital Epicanthus 177
Curvature of little finger 110
Curvature of spine 282
Cystic kidney 30
Death in early childhood 82
Death in infancy 82
Dental abnormalities 60
Dull intelligence 645
Ectopic kidney 11
Feeding difficulties 127
Fetal Growth Retardation 189
Flexion contracture - elbow 32
Glossoptosis 10
Hip Dislocation, Congenital 48
Hyperkyphosis 111
Hypernasal voice 39
Hypoplastic mandible condyle 275
Hypoplastic palate 4
Hypotrophic malar bone 129
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Kyphosis deformity of spine 114
Long philtrum 137
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Nasal voice 39
Neck webbing 35
Polyhydramnios 108
Poor school performance 645
Porencephaly 20
Posterior displacement of the tongue 10
Posteriorly rotated ear 61
Postnatal growth retardation 57
Renal cyst 30
Respiratory Distress Syndrome 15
Short hard palate 4
Short palate 4
Short stature 531
Short upper arms 16
Small head 374
Thoracic hypoplasia 14
Tooth Abnormalities 69
Tracheomalacia 22
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (14)

Disease log2 FC p
adult high grade glioma 1.100 2.8e-03
atypical teratoid / rhabdoid tumor 1.600 5.4e-07
dermatomyositis 1.300 1.6e-03
diabetes mellitus -1.800 2.2e-03
glioblastoma 1.300 2.6e-07
group 3 medulloblastoma 1.300 3.8e-03
invasive ductal carcinoma 1.100 5.5e-03
malignant mesothelioma 1.400 1.7e-06
medulloblastoma, large-cell 2.000 5.3e-06
Multiple myeloma 1.973 2.0e-04
osteosarcoma 2.343 1.7e-07
ovarian cancer 3.000 2.8e-06
psoriasis 3.100 6.4e-06
Waldenstrons macroglobulinemia 1.301 1.4e-02

Gene RIF (9)

AA Sequence

MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAEREEKRVLGLV      1 - 70
LLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPMPQAPAGLAGPVRGVGGPSQQ     71 - 140
VMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMGRGAPPPGMMGPPPGMRPPMGPPMGIPPGRG    141 - 210
TPMGMPPPGMRPPPPGMRGPPPPGMRPPRP                                            211 - 240
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Text Mined References (75)

PMID Year Title