Property Summary

Ligand Count 13
NCBI Gene PubMed Count 21
PubMed Score 28.69
PubTator Score 19.47

Knowledge Summary

Patent (844)

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Epilepsy, Idiopathic Generalized 5 0.0 0.0
Schizophrenia 1160 0.0 0.0
Disease Target Count
Absent speech 43
Agenesis of corpus callosum 83
Autistic Disorder 364
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Cerebral atrophy 178
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Constipation 181
Curvature of little finger 110
Decreased projection of midface 105
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 1
Electroencephalogram abnormal 101
Enophthalmos 75
Failure to gain weight 365
Feeding difficulties in infancy 175
Flexion contracture of proximal interphalangeal joint 75
Gait abnormality 135
Gastroesophageal reflux disease 110
Global developmental delay 608
Heartburn 78
High-grade hypermetropia 24
Hypoplastic feet 66
Hypotrophic midface 105
Idiopathic generalized epilepsy 14
Intellectual disability 1016
Late fontanel closure 28
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microstomia 78
Midface retrusion 105
Mood Disorders 184
Muscle hypotonia 571
Myoclonic Epilepsy, Juvenile 7
Nasal bridge wide 236
Pediatric failure to thrive 365
Pointed chin 33
Poor school performance 645
Poor speech 37
Problems speaking 37
Seizures 596
Self-Injurious Behavior 12
Small head 374
Small midface 105
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Straight eyebrows 5
Sunken eyes 63
Wide skull shape 88
nonverbal 43
Disease Target Count Z-score Confidence
Baraitser-Winter syndrome 12 3.724 1.9
Postpartum depression 8 3.336 1.7

Expression

  Differential Expression (14)

Disease log2 FC p
adult high grade glioma -2.400 8.6e-04
astrocytic glioma -1.100 2.6e-02
Astrocytoma, Pilocytic -2.600 9.4e-07
atypical teratoid / rhabdoid tumor -2.000 5.3e-05
ependymoma -1.500 1.8e-02
glioblastoma -2.300 2.7e-09
group 3 medulloblastoma -2.100 3.0e-02
medulloblastoma, large-cell -1.800 2.1e-03
oligodendroglioma -1.200 1.5e-11
osteosarcoma 1.067 2.9e-04
Pick disease -1.200 2.7e-02
primitive neuroectodermal tumor -2.600 2.1e-06
psoriasis -1.500 1.7e-34
subependymal giant cell astrocytoma -3.632 6.6e-04

Gene RIF (9)

AA Sequence

MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALAL      1 - 70
EVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVE     71 - 140
NKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQ    141 - 210
LAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARV    211 - 280
SLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRP    281 - 350
RAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLR    351 - 420
PIDADTIDIYARAVFPAAFAAVNVIYWAAYAM                                          421 - 452
//

Text Mined References (23)

PMID Year Title