Property Summary

NCBI Gene PubMed Count 33
PubMed Score 45.21
PubTator Score 28.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Craniosynostosis 74
Umbilical hernia 93
Acquired scoliosis 281
Acrocephalopolysyndactyly type 2 2
Acrocephaly 12
Anodontia of Permanent Dentition 6
Aplasia/Hypoplasia of the middle phalanges of the toes 5
Atrial Septal Defects 85
Auricular malformation 41
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad thumbs 28
Byzanthine arch palate 194
Cerebral atrophy 178
Cloudy cornea 33
Cloverleaf cranium shape 6
Cloverleaf skull 7
Complete duplication of proximal phalanx of the thumb 1
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital omphalocele 20
Contracture of joint of hand 30
Corneal abnormalities 6
Corneal diameter decreased 47
Corneal stromal opacities 33
Cornela disease 6
Coronal craniosynostosis 14
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 296
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
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilatation of ureter 15
Discordant ventriculoarterial connection 17
Dull intelligence 645
Duplication of the proximal phalanx of the hallux 1
Failure of exfoliation of primary tooth 8
Flared iliac wings 13
Genu varum 29
Hydronephrosis 89
Hyperplasia of foramen magnum 6
Hypoplasia of the maxilla 66
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Intellectual disability 1016
Interparietal craniosynostosis 6
Knee joint valgus deformity 56
Large foramen magnum 6
Lateral displacement of patellae 1
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Metatarsus Varus 24
Microcornea 47
Micrognathism 275
Midface retrusion 105
Obesity 678
Optic Atrophy 242
Patent ductus arteriosus 90
Polysplenia 7
Poor school performance 645
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preaxial Hallucal Polydactyly 3
Preaxial foot polydactyly 3
Precocious Puberty 28
Pseudoepiphyses of the proximal phalanges of the hand 1
Pulmonary Stenosis 45
Retrusion of upper jaw bones 66
Sacral dimples 18
Sensorineural Hearing Loss (disorder) 284
Shallow acetabular fossae 5
Shallow acetabulum 5
Short neck 140
Short stature 531
Short to absent middle phalanges 5
Simple ear 41
Skull malformation 38
Small genitalia 13
Small midface 105
Spina bifida occulta 19
Supratentorial atrophy 94
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostotic Posterior Plagiocephaly 8
Telecanthus 62
Tetralogy of Fallot 63
Toeing-in 24
Tooth absent 6
Ulnar polydactyly of fingers 47
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Uroureter 15
Ventricular Septal Defects 119
Wide skull shape 88

Expression

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (20)

AA Sequence

MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRLMLWDTAGQEE      1 - 70
FDAITKAYYRGAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQNKIDLLDDSCIKNEEAEALA     71 - 140
KRLKLRFYRTSVKEDLNVNEVFKYLAEKYLQKLKQQIAEDPELTHSSSNKIGVFNTSGGSHSGQNSGTLN    141 - 210
GGDVINLRPNKQRTKKNRNPFSSCSIP                                               211 - 237
//

Text Mined References (37)

PMID Year Title