Property Summary

NCBI Gene PubMed Count 101
PubMed Score 59.87
PubTator Score 1052.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abdominal wall muscle weakness 6
Absent speech 43
Accessory rib 10
Acquired flat foot 72
Acquired scoliosis 281
Agenesis of corpus callosum 83
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Arachnodactyly 49
Arnold-Chiari Malformation, Type I 5
Auricular malformation 41
Autistic Disorder 364
Bilateral fifth finger clinodactyly 110
Blepharoptosis 231
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
C1-C2 vertebral abnormality 1
Cerebral atrophy 178
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital dislocation of radial head 14
Congenital musculoskeletal anomalies 5
Congenital pectus carinatum 52
Constipation 181
Contracture of joint of hand 30
Craniosynostosis 74
Curvature of little finger 110
Curvature of spine 282
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dilatation of aorta 9
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Electroencephalogram abnormal 101
Enophthalmos 75
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Flatfoot 73
Flexion contracture of proximal interphalangeal joint 75
Frontal bossing 157
Gait abnormality 135
Gastroesophageal reflux disease 110
Generalized osteopenia 99
Genu recurvatum 12
Global developmental delay 608
Heartburn 78
High-grade hypermetropia 24
Hooked clavicle 5
Hydrocephalus 152
Hypoplasia of the maxilla 66
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrophic maxilla 66
Hypotrophic midface 105
Intellectual disability 1016
Isolated cases 72
Joint laxity 54
Late fontanel closure 28
Long narrow head 75
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Malocclusion 57
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metaphyseal widening 22
Metatarsus Varus 24
Micrognathism 275
Microstomia 78
Midface retrusion 105
Minimal subcutaneous fat 2
Mitral Valve Prolapse Syndrome 39
Muscle hypotonia 571
Myopia 176
Narrow cranium shape 75
Narrow head shape 75
Narrow palate 20
Narrow skull shape 75
Nasal bridge wide 236
Orbital separation excessive 244
Osteopenia 99
Pectus excavatum 100
Pediatric failure to thrive 365
Pointed chin 33
Poor school performance 645
Poor speech 37
Problems speaking 37
Retrusion of upper jaw bones 66
Seizures 596
Self-Injurious Behavior 12
Shallow orbits 13
Shprintzen-Goldberg syndrome 2
Simple ear 41
Skin hyperelastic 32
Skull malformation 38
Sleep Apnea, Obstructive 10
Small head 374
Small midface 105
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Straight eyebrows 5
Sunken eyes 63
Telecanthus 62
Thin rib 21
Toeing-in 24
Turridolichocephaly 75
Umbilical hernia 93
Wide anterior fontanel 44
Wide skull shape 88
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Cancer 2499 0.0 4.0

Expression

  Differential Expression (18)

Protein-protein Interaction (2)

Gene RIF (68)

AA Sequence

MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEP      1 - 70
PPVLHLPAIQPPPPVLPGPFFMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQIN     71 - 140
AVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKTDAERLCNALLYGGAYPPPCKKELAASLALG    141 - 210
LELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENRTCHWGFDSAN    211 - 280
WRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRVPRVSSEPPASIRPKTDDTSSQSPAPSEKD    281 - 350
KPSSWLRTLAGSSNKSLGCVHPRQRLSAFRPWSPAVSASEKELSPHLPALIRDSFYSYKSFETAVAPNVA    351 - 420
LAPPAQQKVVSSPPCAAAVSRAPEPLATCTQPRKRKLTVDTPGAPETLAPVAAPEEDKDSEAEVEVESRE    421 - 490
EFTSSLSSLSSPSFTSSSSAKDLGSPGARALPSAVPDAAAPADAPSGLEAELEHLRQALEGGLDTKEAKE    491 - 560
KFLHEVVKMRVKQEEKLSAALQAKRSLHQELEFLRVAKKEKLREATEAKRNLRKEIERLRAENEKKMKEA    561 - 630
NESRLRLKRELEQARQARVCDKGCEAGRLRAKYSAQIEDLQVKLQHAEADREQLRADLLREREAREHLEK    631 - 700
VVKELQEQLWPRARPEAAGSEGAAELEP                                              701 - 728
//

Text Mined References (104)

PMID Year Title