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 73
Umbilical hernia 88
Acquired scoliosis 274
Acrocephalopolysyndactyly type 2 2
Acrocephaly 12
Anodontia of Permanent Dentition 6
Aplasia/Hypoplasia of the middle phalanges of the toes 5
Atrial Septal Defects 81
Auricular malformation 41
Autosomal recessive predisposition 1407
Bilateral fifth finger clinodactyly 109
Brachycephaly 86
Brachydactyly 154
Broad cranium shape 86
Broad thumbs 26
Byzanthine arch palate 194
Cerebral atrophy 175
Cloudy cornea 32
Cloverleaf cranium shape 6
Cloverleaf skull 7
Complete duplication of proximal phalanx of the thumb 1
Concave bridge of nose 191
Conductive hearing loss 122
Congenital Camptodactyly 39
Congenital Epicanthus 175
Congenital omphalocele 20
Contracture of joint of hand 30
Corneal abnormalities 6
Corneal diameter decreased 46
Corneal stromal opacities 32
Cornela disease 6
Coronal craniosynostosis 14
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 287
Curvature of little finger 109
Curvature of spine 275
Decreased projection of maxilla 65
Decreased projection of midface 104
Deficiency of upper jaw bones 65
Degenerative brain disorder 98
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Dilatation of ureter 15
Discordant ventriculoarterial connection 16
Dull intelligence 634
Duplication of the proximal phalanx of the hallux 1
Failure of exfoliation of primary tooth 8
Flared iliac wings 12
Genu varum 26
Hydronephrosis 87
Hyperplasia of foramen magnum 6
Hypoplasia of the maxilla 65
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 273
Hypotrophic malar bone 129
Hypotrophic maxilla 65
Hypotrophic midface 104
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Intellectual disability 998
Interparietal craniosynostosis 6
Knee joint valgus deformity 54
Large foramen magnum 6
Lateral displacement of patellae 1
Low intelligence 634
Low set ears 178
Malar flattening 129
Mandibular hypoplasia 273
Maxillary retrognathia 65
Mental Retardation 634
Mental deficiency 634
Metatarsus Varus 24
Microcornea 46
Micrognathism 273
Midface retrusion 104
Obesity 655
Optic Atrophy 239
Patent ductus arteriosus 86
Polysplenia 6
Poor school performance 634
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preaxial Hallucal Polydactyly 3
Preaxial foot polydactyly 3
Precocious Puberty 27
Pseudoepiphyses of the proximal phalanges of the hand 1
Pulmonary Stenosis 44
Retrusion of upper jaw bones 65
Sacral dimples 18
Sensorineural Hearing Loss (disorder) 281
Shallow acetabular fossae 5
Shallow acetabulum 5
Short neck 139
Short stature 514
Short to absent middle phalanges 5
Simple ear 41
Skull malformation 37
Small genitalia 13
Small midface 104
Spina bifida occulta 18
Supratentorial atrophy 93
Syndactyly of fingers 48
Syndactyly of the toes 45
Synostotic Posterior Plagiocephaly 8
Telecanthus 62
Tetralogy of Fallot 66
Toeing-in 24
Tooth absent 6
Ulnar polydactyly of fingers 46
Underdeveloped brows 37
Underdeveloped supraorbital ridges 37
Uroureter 15
Ventricular Septal Defects 113
Wide skull shape 86

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