Property Summary

NCBI Gene PubMed Count 10
PubMed Score 291.64
PubTator Score 93.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Frontonasal dysplasia 6 0.0 0.0
Disease Target Count
Parietal foramina 10
Abnormally small eyeball 97
Agenesis of corpus callosum 83
Anterior basal encephalocele 1
Autosomal recessive predisposition 1442
Bifid nasal tip 4
Blepharoptosis 231
Brachydactyly 156
Broad flat nasal bridge 236
Broad nasal tip 28
Cataract 297
Central incisor gap 3
Conductive hearing loss 123
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital ocular coloboma (disorder) 40
Contracture of joint of hand 30
Curvature of digit 57
Decreased pneumatization of frontal sinus 6
Decreased projection of maxilla 66
Decreased size of eyeball 97
Deficiency of upper jaw bones 66
Diastema between maxillary central incisors 3
Dull intelligence 645
Frontal cutaneous lipoma 1
Hypoplasia of columella 7
Hypoplasia of the maxilla 66
Hypoplastic frontal sinuses 6
Hypotrophic frontal sinus 6
Hypotrophic maxilla 66
Intellectual disability 1016
Isolated cases 72
Lens Opacities 231
Lipoma of corpus callosum 1
Low intelligence 645
Low set ears 181
Maxillary retrognathia 66
Median cleft lip 7
Median cleft palate 1
Mental Retardation 645
Mental deficiency 645
Microphthalmos 100
Nasal bridge wide 236
Notched nasal tip 4
Orbital separation excessive 244
Pectoral muscle hypoplasia/aplasia 1
Poor school performance 645
Preauricular skin tag 19
Radially deviated fingers 38
Retrusion of upper jaw bones 66
Short columella 7
Skin tag on the posterior cheek 19
Tetralogy of Fallot 67
Ulnar polydactyly of fingers 47
WIDOW'S PEAK 6
Wide upper central incisors 3
Disease Target Count
Frontonasal Dysplasia 1 1

Expression

 GWAS Trait (1)

Gene RIF (9)

AA Sequence

MDPEHCAPFRVGPAPGPYVASGDEPPGPQGTPAAAPHLHPAPPRGPRLTRFPACGPLEPYLPEPAKPPAK      1 - 70
YLQDLGPGPALNGGHFYEGPAEAEEKTSKAASFPQLPLDCRGGPRDGPSNLQGSPGPCLASLHLPLSPGL     71 - 140
PDSMELAKNKSKKRRNRTTFSTFQLEELEKVFQKTHYPDVYAREQLALRTDLTEARVQVWFQNRRAKWRK    141 - 210
RERYGKIQEGRNPFTAAYDISVLPRTDSHPQLQNSLWASPGSGSPGGPCLVSPEGIPSPCMSPYSHPHGS    211 - 280
VAGFMGVPAPSAAHPGIYSIHGFPPTLGGHSFEPSSDGDYKSPSLVSLRVKPKEPPGLLNWTT           281 - 343
//

Text Mined References (13)

PMID Year Title