Property Summary

NCBI Gene PubMed Count 288
PubMed Score 2830.75
PubTator Score 164.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of metabolism/homeostasis 134
Acquired scoliosis 281
Agenesis of corpus callosum 83
Agyria 15
Animal Mammary Neoplasms 136
Anteverted nostril 191
Aortic valve stenosis 28
Autosomal recessive predisposition 1442
Bicuspid aortic valve 16
Bipolar Disorder 666
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Cleft Lip 141
Cleft Palate 271
Cleft palate with cleft lip 23
Cognitive delay 608
Coloboma of iris 38
Congenital hypoplasia of penis 176
Congenital neurologic anomalies 20
Congenital ocular coloboma (disorder) 40
Cryptorchidism 296
Curvature of spine 282
Death in early adulthood 24
Degenerative polyarthritis 115
Deglutition Disorders 132
Dull intelligence 645
Epilepsy 792
Esophageal Achalasia 9
Externally rotated hips 2
Fundus coloboma 18
Generalized dystonia 4
Global developmental delay 608
High forehead 102
Hyperkyphosis 111
Hypoplastic scapulae 14
Immunologic Deficiency Syndromes 113
Intellectual disability 1016
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 2
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Lens Opacities 231
Lissencephaly 69
Liver carcinoma 240
Long palpebral fissure 17
Long philtrum 137
Low Birth Weights 69
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Macroglossia 65
Macrostomia 72
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration 32
Micromelia 58
Mild Mental Retardation 70
Mild global developmental delay 14
Muscle hypotonia 571
Nasal bridge wide 236
Oral cleft 18
Orbital separation excessive 244
Overfolded helix 24
Pachygyria 41
Patent ductus arteriosus 90
Pointed chin 33
Poor school performance 645
Postnatal growth retardation 57
Prominent epicanthal folds 3
Psychomotor retardation, mild 14
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short neck 140
Short nose 132
Short stature 531
Small for gestational age (disorder) 69
Small head 374
Small nose 132
Tall forehead 102
Thin upper lip vermilion 67
Triangular head shape 10
Trigonocephaly 10
Uranostaphyloschisis 167
Wedge shaped head 10
Disease Target Count Z-score Confidence
Baraitser-Winter syndrome 12 4.918 2.5

Expression

  Differential Expression (22)

Disease log2 FC p
astrocytoma 1.500 4.7e-03
Astrocytoma, Pilocytic 1.400 7.1e-03
atypical teratoid/rhabdoid tumor 1.400 1.1e-02
COPD -1.100 6.3e-04
dermatomyositis -1.600 7.1e-04
Down syndrome 1.500 1.1e-02
ependymoma 1.400 2.0e-04
glioblastoma 1.200 3.9e-03
group 4 medulloblastoma 1.700 2.4e-02
head and neck cancer and chronic obstruc... 1.300 1.3e-02
intraductal papillary-mucinous adenoma (... -1.100 2.8e-04
intraductal papillary-mucinous neoplasm ... -1.100 6.9e-04
lung adenocarcinoma 2.852 9.7e-10
medulloblastoma, large-cell 1.100 2.7e-03
Multiple myeloma 1.006 3.5e-03
osteosarcoma 2.061 3.4e-04
ovarian cancer -1.700 5.7e-09
pancreatic cancer 2.000 3.0e-03
pediatric high grade glioma 1.500 1.2e-02
primary pancreatic ductal adenocarcinoma 2.394 3.7e-04
primitive neuroectodermal tumor 1.100 2.6e-04
Rheumatoid arthritis -1.400 9.2e-03

Gene RIF (124)

AA Sequence

MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYP      1 - 70
IEHGIVTNWDDMEKIWHHTFYNELRVAPEEHPVLLTEAPLNPKANREKMTQIMFETFNTPAMYVAIQAVL     71 - 140
SLYASGRTTGIVMDSGDGVTHTVPIYEGYALPHAILRLDLAGRDLTDYLMKILTERGYSFTTTAEREIVR    141 - 210
DIKEKLCYVALDFEQEMATAASSSSLEKSYELPDGQVITIGNERFRCPEALFQPSFLGMESCGIHETTFN    211 - 280
SIMKCDVDIRKDLYANTVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLS    281 - 350
TFQQMWISKQEYDESGPSIVHRKCF                                                 351 - 375
//

Text Mined References (297)

PMID Year Title