Property Summary

NCBI Gene PubMed Count 32
PubMed Score 37.22
PubTator Score 26.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Radioulnar synostosis 35
Congenital diaphragmatic hernia 67
Abnormally-shaped vertebrae 31
Absence of septum pellucidum 13
Accessory proximal metacarpal ossification centers 7
Accessory spleen 7
Acquired scoliosis 281
Auricular malformation 41
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Cleft Lip 141
Cleft Palate 271
Cognitive delay 608
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital ectopic pupil 7
Convex nasal ridge 37
Craniofacial asymmetry 5
Curvature of spine 282
Decreased muscle mass 28
Delayed bone age 136
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Epilepsy 792
Exophthalmos 112
Failure to gain weight 365
Fetal Growth Retardation 189
Fused vertebrae 25
Gastroesophageal reflux disease 110
Generalized hypotonia 37
Global developmental delay 608
Heartburn 78
Hemangioma 69
High forehead 102
Hyperconvex fingernails 7
Hyperkyphosis 111
Hypodontia 81
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated cases 72
Kyphosis deformity of spine 114
Low Birth Weights 69
Low posterior hairline 52
Malrotation of small bowel 6
Mandibular hypoplasia 275
Mental and motor retardation 608
Metatarsus Varus 24
Micrognathism 275
Narrowing of ear canal 13
Nasal bridge wide 236
Nystagmus 317
Orbital separation excessive 244
Pediatric failure to thrive 365
Periventricular cysts 7
Persistent cavum septum pellucidum 10
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preauricular skin tag 19
Precocious Puberty 28
Prominent eyes 96
Prominent glabella 7
Prominent globes 96
Protruding eyes 96
Reduced fetal movement 51
Rib fusion 16
Rib segmentation abnormalities 8
Rieger syndrome 8
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Severe postnatal growth retardation 16
Short philtrum 53
Short stature 531
Short upper lip 7
Simple ear 41
Skin tag on the posterior cheek 19
Small for gestational age (disorder) 69
Small head 374
Spinal fusion 25
Stenosis of external auditory canal 13
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Sternal ossification center abnormalities 5
Strabismus 270
Tall forehead 102
Thick, flared eyebrows 41
Toeing-in 24
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Vertebral body fusion 25
Disease Target Count P-value
ependymoma 4679 1.1e-04

Expression

  Differential Expression (1)

Disease log2 FC p
ependymoma 1.500 1.1e-04

Gene RIF (19)

AA Sequence

MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPLTMWTKDGRTI      1 - 70
HSGWSRFRVLPQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPA     71 - 140
SQQWARPRFTQPSKMRRRVIARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKN    141 - 210
LRPEDSGKYTCRVSNRAGAINATYKVDVIQRTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQW    211 - 280
LKRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYLNKLLITRARQDDAGMYICLGANTMGYSFRS    281 - 350
AFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQAQKKPCTPAPAPPLPGHRPP    351 - 420
GTARDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHTHTHTHSHTHS    421 - 490
HVEGKVHQHIHYQC                                                            491 - 504
//

Text Mined References (32)

PMID Year Title