Property Summary

NCBI Gene PubMed Count 595
PubMed Score 1089.94
PubTator Score 997.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal nasal morphology 16
Abnormality of immune system physiology 16
Abnormally small eyeball 97
Abnormally small eyeball on both sides 5
Adducted thumb 22
Adenocarcinoma of lung (disorder) 60
Arthrogryposis 54
Autosomal recessive predisposition 1442
Bilateral nanophthalmos 5
Blepharophimosis 70
Broad flat nasal bridge 236
CAMFAK syndrome 4
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Cerebral calcification 43
Cerebrooculofacioskeletal Syndrome 1 4
Cockayne Syndrome, Type II 3
Cognitive delay 608
Congenital dislocation of radial head 14
Convex nasal bridge 57
Cortical gyral simplification 19
Craniosynostosis 74
Death in early childhood 82
Death in infancy 82
Decreased size of eyeball 97
Decreased to absent deep tendon reflexes 42
Early closure of the bregma sutures 2
Early fontanel closure 2
Electroencephalogram abnormal 101
Enophthalmos 75
Epilepsy 792
Everted lower lip vermilion 54
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flexion contracture of proximal interphalangeal joint 75
Global developmental delay 608
Global developmental delay, severe 47
Highly variable severity 157
Hyperreflexia 209
Hypogonadism 173
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Lens Opacities 231
Low Vision 174
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Microphthalmia, bilateral 5
Microphthalmos 100
Muscle Hypertonia 88
Muscle hypotonia 571
Nasal bridge wide 236
Nystagmus 317
Pena Shokeir syndrome Type 2 4
Peripheral Neuropathy 134
Photosensitivity of skin 51
Polymicrogyria 48
Prenatal onset 139
Prominent metopic ridge 15
Prominent nasal bridge 57
Protruding lower lip 54
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short neck 140
Short philtrum 53
Short stature 531
Slender, gracile long tubular bones 21
Small head 374
Splayed metaphyses 19
Sunken eyes 63
Toe contractures 5
Uterine Cervical Neoplasm 25
Variable expressivity 157
Vertical Talus 25
Visual Impairment 174
alcohol use disorder 12
non-small cell lung carcinoma 317
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (7)

Disease log2 FC p
Breast cancer -1.100 3.6e-09
group 3 medulloblastoma 1.200 1.2e-04
intraductal papillary-mucinous carcinoma... -1.100 8.3e-03
intraductal papillary-mucinous neoplasm ... -1.200 6.9e-03
non primary Sjogren syndrome sicca 1.200 1.8e-02
osteosarcoma -2.536 2.6e-06
ovarian cancer 2.200 5.0e-07

Protein-protein Interaction (4)

Gene RIF (582)

AA Sequence

MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLE      1 - 70
GAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALF     71 - 140
LSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLE    141 - 210
TYKAYEQKPADLLMEKLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQ    211 - 280
KARRLFDVLHEPFLKVP                                                         281 - 297
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Text Mined References (597)

PMID Year Title