Property Summary

Ligand Count 57
NCBI Gene PubMed Count 379
PubMed Score 549.60
PubTator Score 980.75

Knowledge Summary

Patent (14,037)

TINX Plot

  Disease (6)

Disease Target Count
11 pairs of ribs 7
Abnormal finger flexion creases 3
Absence of a tooth 6
Absent earlobe 9
Acquired flat foot 72
Acquired scoliosis 281
Agenesis of teeth 21
Alopecia 115
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Auricular malformation 41
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Byzanthine arch palate 194
Cachexia 50
Cerebellar vermis hypoplasia 24
Cleft Palate 271
Cone-shaped epiphyses 24
Cone-shaped epiphyses of phalanges 15
Congenital dislocation of radial head 14
Convex nasal ridge 37
Craniosynostosis 74
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Defective enamel matrix 35
Defective tooth enamel 31
Delayed bone age 136
Dental Enamel Hypoplasia 43
Dental caries 164
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysplasia of tooth enamel 35
Dystrophic tooth enamel 31
Enamel abnormalities 31
Epilepsy 792
Facial asymmetry 32
Fetal Growth Retardation 189
Flatfoot 73
Flexion contracture - elbow 32
Glaucoma 239
Globe of eye large 20
Hip Dislocation, Congenital 48
Hyperactive behavior 91
Hyperplasia of nose 23
Hypertrophy of clitoris 40
Hypertrophy of nose 23
Hypoplasia of proximal fibula 1
Hypoplasia of proximal radius 1
Hypoplastic mandible condyle 275
Impaired cognition 96
Inadequate arch length for tooth size 45
Increased size of palpebral fissures 9
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Ivory epiphyses 1
Joint hyperflexibility 78
Large basal ganglia 1
Large eyes 9
Large nose 23
Low intelligence 645
Low set ears 181
Malocclusion 57
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Mild global developmental delay 14
Narrow face 54
Pachygyria 41
Pancytopenia 45
Penile hypospadias 106
Poor school performance 645
Postnatal growth retardation 57
Precociously senile appearance 18
Proportionate short stature 4
Psychomotor retardation, mild 14
Reduced number of teeth 21
Rotting teeth 73
Sandal gap 24
Seizures 596
Selective tooth agenesis 6
Short stature 531
Simple ear 41
Single transverse palmar crease 29
Skull malformation 38
Sloping forehead 46
Small anterior fontanelle 3
Small head 374
Sparse scalp hair 42
Spider Veins 17
Strabismus 270
Talipes 20
Talipes foot deformities 20
Telangiectasis 36
Thin dental enamel 35
Thin face 54
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Uranostaphyloschisis 167
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 0.6
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.8
Disease Target Count
Seckel syndrome 34

Expression

  Differential Expression (10)

Disease log2 FC p
acute quadriplegic myopathy 1.164 2.6e-06
colon cancer 1.600 4.9e-02
dermatomyositis 1.400 1.1e-03
esophageal adenocarcinoma 1.100 2.0e-02
intraductal papillary-mucinous neoplasm ... 1.400 4.7e-02
juvenile dermatomyositis 1.189 1.3e-12
lung cancer 1.600 7.7e-03
non-small cell lung cancer 1.216 3.1e-17
ovarian cancer 1.700 2.7e-05
Pick disease -1.300 6.0e-06

Gene RIF (340)

AA Sequence

MGEHGLELASMIPALRELGSATPEEYNTVVQKPRQILCQFIDRILTDVNVVAVELVKKTDSQPTSVMLLD      1 - 70
FIQHIMKSSPLMFVNVSGSHEAKGSCIEFSNWIITRLLRIAATPSCHLLHKKICEVICSLLFLFKSKSPA     71 - 140
IFGVLTKELLQLFEDLVYLHRRNVMGHAVEWPVVMSRFLSQLDEHMGYLQSAPLQLMSMQNLEFIEVTLL    141 - 210
MVLTRIIAIVFFRRQELLLWQIGCVLLEYGSPKIKSLAISFLTELFQLGGLPAQPASTFFSSFLELLKHL    211 - 280
VEMDTDQLKLYEEPLSKLIKTLFPFEAEAYRNIEPVYLNMLLEKLCVMFEDGVLMRLKSDLLKAALCHLL    281 - 350
QYFLKFVPAGYESALQVRKVYVRNICKALLDVLGIEVDAEYLLGPLYAALKMESMEIIEEIQCQTQQENL    351 - 420
SSNSDGISPKRRRLSSSLNPSKRAPKQTEEIKHVDMNQKSILWSALKQKAESLQISLEYSGLKNPVIEML    421 - 490
EGIAVVLQLTALCTVHCSHQNMNCRTFKDCQHKSKKKPSVVITWMSLDFYTKVLKSCRSLLESVQKLDLE    491 - 560
ATIDKVVKIYDALIYMQVNSSFEDHILEDLCGMLSLPWIYSHSDDGCLKLTTFAANLLTLSCRISDSYSP    561 - 630
QAQSRCVFLLTLFPRRIFLEWRTAVYNWALQSSHEVIRASCVSGFFILLQQQNSCNRVPKILIDKVKDDS    631 - 700
DIVKKEFASILGQLVCTLHGMFYLTSSLTEPFSEHGHVDLFCRNLKATSQHECSSSQLKASVCKPFLFLL    701 - 770
KKKIPSPVKLAFIDNLHHLCKHLDFREDETDVKAVLGTLLNLMEDPDKDVRVAFSGNIKHILESLDSEDG    771 - 840
FIKELFVLRMKEAYTHAQISRNNELKDTLILTTGDIGRAAKGDLVPFALLHLLHCLLSKSASVSGAAYTE    841 - 910
IRALVAAKSVKLQSFFSQYKKPICQFLVESLHSSQMTALPNTPCQNADVRKQDVAHQREMALNTLSEIAN    911 - 980
VFDFPDLNRFLTRTLQVLLPDLAAKASPAASALIRTLGKQLNVNRREILINNFKYIFSHLVCSCSKDELE    981 - 1050
RALHYLKNETEIELGSLLRQDFQGLHNELLLRIGEHYQQVFNGLSILASFASSDDPYQGPRDIISPELMA   1051 - 1120
DYLQPKLLGILAFFNMQLLSSSVGIEDKKMALNSLMSLMKLMGPKHVSSVRVKMMTTLRTGLRFKDDFPE   1121 - 1190
LCCRAWDCFVRCLDHACLGSLLSHVIVALLPLIHIQPKETAAIFHYLIIENRDAVQDFLHEIYFLPDHPE   1191 - 1260
LKKIKAVLQEYRKETSESTDLQTTLQLSMKAIQHENVDVRIHALTSLKETLYKNQEKLIKYATDSETVEP   1261 - 1330
IISQLVTVLLKGCQDANSQARLLCGECLGELGAIDPGRLDFSTTETQGKDFTFVTGVEDSSFAYGLLMEL   1331 - 1400
TRAYLAYADNSRAQDSAAYAIQELLSIYDCREMETNGPGHQLWRRFPEHVREILEPHLNTRYKSSQKSTD   1401 - 1470
WSGVKKPIYLSKLGSNFAEWSASWAGYLITKVRHDLASKIFTCCSIMMKHDFKVTIYLLPHILVYVLLGC   1471 - 1540
NQEDQQEVYAEIMAVLKHDDQHTINTQDIASDLCQLSTQTVFSMLDHLTQWARHKFQALKAEKCPHSKSN   1541 - 1610
RNKVDSMVSTVDYEDYQSVTRFLDLIPQDTLAVASFRSKAYTRAVMHFESFITEKKQNIQEHLGFLQKLY   1611 - 1680
AAMHEPDGVAGVSAIRKAEPSLKEQILEHESLGLLRDATACYDRAIQLEPDQIIHYHGVVKSMLGLGQLS   1681 - 1750
TVITQVNGVHANRSEWTDELNTYRVEAAWKLSQWDLVENYLAADGKSTTWSVRLGQLLLSAKKRDITAFY   1751 - 1820
DSLKLVRAEQIVPLSAASFERGSYQRGYEYIVRLHMLCELEHSIKPLFQHSPGDSSQEDSLNWVARLEMT   1821 - 1890
QNSYRAKEPILALRRALLSLNKRPDYNEMVGECWLQSARVARKAGHHQTAYNALLNAGESRLAELYVERA   1891 - 1960
KWLWSKGDVHQALIVLQKGVELCFPENETPPEGKNMLIHGRAMLLVGRFMEETANFESNAIMKKYKDVTA   1961 - 2030
CLPEWEDGHFYLAKYYDKLMPMVTDNKMEKQGDLIRYIVLHFGRSLQYGNQFIYQSMPRMLTLWLDYGTK   2031 - 2100
AYEWEKAGRSDRVQMRNDLGKINKVITEHTNYLAPYQFLTAFSQLISRICHSHDEVFVVLMEIIAKVFLA   2101 - 2170
YPQQAMWMMTAVSKSSYPMRVNRCKEILNKAIHMKKSLEKFVGDATRLTDKLLELCNKPVDGSSSTLSMS   2171 - 2240
THFKMLKKLVEEATFSEILIPLQSVMIPTLPSILGTHANHASHEPFPGHWAYIAGFDDMVEILASLQKPK   2241 - 2310
KISLKGSDGKFYIMMCKPKDDLRKDCRLMEFNSLINKCLRKDAESRRRELHIRTYAVIPLNDECGIIEWV   2311 - 2380
NNTAGLRPILTKLYKEKGVYMTGKELRQCMLPKSAALSEKLKVFREFLLPRHPPIFHEWFLRTFPDPTSW   2381 - 2450
YSSRSAYCRSTAVMSMVGYILGLGDRHGENILFDSLTGECVHVDFNCLFNKGETFEVPEIVPFRLTHNMV   2451 - 2520
NGMGPMGTEGLFRRACEVTMRLMRDQREPLMSVLKTFLHDPLVEWSKPVKGHSKAPLNETGEVVNEKAKT   2521 - 2590
HVLDIEQRLQGVIKTRNRVTGLPLSIEGHVHYLIQEATDENLLCQMYLGWTPYM                   2591 - 2644
//

Text Mined References (389)

PMID Year Title