Property Summary

NCBI Gene PubMed Count 56
PubMed Score 115.68
PubTator Score 64.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal palmar dermatoglyphics 2
Abnormal vision 52
Abnormality of position of teeth 8
Abnormally small eyeball 97
Absent upper lateral incisors 3
Adenoid Cystic Carcinoma 99
Agenesis of maxillary lateral incisor 3
Aggressive behavior 75
Aggressive reaction 75
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anophthalmos 13
Anus, Imperforate 46
Aortic valve stenosis 28
Asymmetric ears 2
Atrial Septal Defects 85
Auricular malformation 41
Bicuspid aortic valve 16
Bifid nasal tip 4
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blepharoptosis 231
Blind Vision 111
Blindness, Legal 110
Broad nasal tip 28
Bushy eyebrows 49
Cataract 297
Ciliary body coloboma 2
Clear cell sarcoma of kidney 6
Cleft Lip 141
Cleft palate with cleft lip 23
Cleft uvula 27
Coloboma of iris 38
Coloboma of optic disc 9
Congenital Bilateral Cataracts 50
Congenital Camptodactyly 40
Congenital cataract 50
Congenital clinodactyly 57
Congenital deafness 185
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of kidney 32
Contracture of joint of hand 30
Convex nasal bridge 57
Corneal diameter decreased 47
Cryptorchidism 296
Curvature of digit 57
Curvature of little finger 110
Deafness 198
Decreased size of eyeball 97
Dental abnormalities 60
Digitalization of thumbs 6
Dilatation of ureter 15
Dull intelligence 645
Epilepsy 792
Exotropia 35
Failure of exfoliation of primary tooth 8
Flexion contracture of proximal interphalangeal joint 75
Flexion contracture of the 2nd toe 1
Flexion contracture of the 4th toe 1
Fundus coloboma 18
Fused Teeth 1
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hammer Toe 23
Hearing Loss, Partial 185
Heart Septal Defects 24
High, narrow palate 32
Hirschsprung Disease 31
Hydronephrosis 89
Inadequate arch length for tooth size 45
Intellectual disability 1016
Kidney Neoplasm 29
Kyphoscoliosis deformity of spine 60
Late tooth eruption 61
Laterally curved eyebrows 1
Lens Opacities 231
Little's Disease 14
Long face 71
Long philtrum 137
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Lumbar lordosis 35
Malformed pinnae 37
Malocclusion 57
Megacolon 29
Mental Retardation 645
Mental deficiency 645
Microcornea 47
Microphthalmos 100
Mild Mental Retardation 70
Misalignment of teeth 8
Missing more than six teeth 22
Mitral Valve Prolapse Syndrome 39
Motor delay 147
Muscle hypotonia 571
Narrow face 54
Narrow thorax 53
Neck webbing 35
No development of motor milestones 147
Notched nasal tip 4
Oligodontia 24
Oral cleft 18
Overfolded helix 24
Patent ductus arteriosus 90
Pectus excavatum 100
Penile hypospadias 106
Persistent hyperplastic primary vitreous 20
Physical aggression 76
Poor growth 114
Poor school performance 645
Posteriorly rotated ear 61
Prominent nasal bridge 57
Pulmonary Stenosis 45
Pyloric Stenosis 47
Radially deviated fingers 38
Radioulnar synostosis 35
Rectal prolapse 19
Recurrent otitis media 42
Renal hypoplasia/aplasia 7
Seizures 596
Self Mutilation 14
Sensorineural Hearing Loss (disorder) 284
Septate vagina 3
Short stature 531
Simple ear 41
Simple syndactyly of toes, first web space 23
Sloping shoulders 21
Small head 374
Spade-like hand 16
Submucous cleft of hard palate 11
Submucous clefting 9
Syndactyly 88
Syndactyly of fingers 48
Thin face 54
Tooth Abnormalities 69
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Tooth, Supernumerary 7
Uroureter 15
Ventricular Septal Defects 119
Very poor growth 114
X-linked dominant 57
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Rheumatoid arthritis 1191 0.0 1.8
Disease Target Count Z-score Confidence
Microphthalmia 76 4.463 2.2

Expression

  Differential Expression (19)

 GO Component (1)

 GWAS Trait (1)

Gene RIF (37)

AA Sequence

MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAAL      1 - 70
SMDRTGLIREGLRVPGNIVYSSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGK     71 - 140
PPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLNINGASYLRLPWVNPYMEGATPAIYPFLDSP    141 - 210
NKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTPSASPAIPPLV    211 - 280
HCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPA    281 - 350
ADTYSEFHKHYARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKD    351 - 420
GSSPPLLEKQTVTKDVTDKPLDLSSKVVDVDASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPP    421 - 490
GNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQRSSSCPRMGGTDAVITNVSGS    491 - 560
VSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANE    561 - 630
NGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKP    631 - 700
GLPYGLPTGRPEFVTYQDALGLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILET    701 - 770
SSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLREEPDAKTDTNVSKPSFAAESVGQSAEPPKP    771 - 840
SVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPFLEPPLGSDGP    841 - 910
AVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCV    911 - 980
TTELYADSSQLSREQRALQMEGLQEDSILCLPAAYCERAMMRFSELEMKEREGGHPATKDSEMCKFSPAD    981 - 1050
WERLKGNQDKKPKSVTLEEAIAEQNESERCEYSVGNKHRDPFEAPEDKDLPVEKYFVERQPVSEPPADQV   1051 - 1120
ASDMPHSPTLRVDRKRKVSGDSSHTETTAEEVPEDPLLKAKRRRVSKDDWPEREMTNSSSNHLEDPHYSE   1121 - 1190
LTNLKVCIELTGLHPKKQRHLLHLRERWEQQVSAADGKPGRQSRKEVTQATQPEAIPQGTNITEEKPGRK   1191 - 1260
RAEAKGNRSWSEESLKPSDNEQGLPVFSGSPPMKSLSSTSAGGKKQAQPSCAPASRPPAKQQKIKENQKT   1261 - 1330
DVLCADEEEDCQAASLLQKYTDNSEKPSGKRLCKTKHLIPQESRRGLPLTGEYYVENADGKVTVRRFRKR   1331 - 1400
PEPSSDYDLSPAKQEPKPFDRLQQLLPASQSTQLPCSSSPQETTQSRPMPPEARRLIVNKNAGETLLQRA   1401 - 1470
ARLGYEEVVLYCLENKICDVNHRDNAGYCALHEACARGWLNIVRHLLEYGADVNCSAQDGTRPLHDAVEN   1471 - 1540
DHLEIVRLLLSYGADPTLATYSGRTIMKMTHSELMEKFLTDYLNDLQGRNDDDASGTWDFYGSSVCEPDD   1541 - 1610
ESGYDVLANPPGPEDQDDDDDAYSDVFEFEFSETPLLPCYNIQVSVAQGPRNWLLLSDVLKKLKMSSRIF   1611 - 1680
RCNFPNVEIVTIAEAEFYRQVSASLLFSCSKDLEAFNPESKELLDLVEFTNEIQTLLGSSVEWLHPSDLA   1681 - 1750
SDNYW                                                                    1751 - 1755
//

Text Mined References (65)

PMID Year Title