Property Summary

NCBI Gene PubMed Count 9
PubMed Score 23.48
PubTator Score 17.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Mitral valve insufficiency 49
Abnormal skeletal development 60
Absent auditory canals 23
Absent external auditory canals 23
Acquired scoliosis 281
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteriorly placed anus 7
Anus, Imperforate 46
Atresia of the external auditory canal 23
Atretic auditory canal 23
Autosomal recessive predisposition 1442
Blepharophimosis 70
Blepharoptosis 231
Broad flat nasal bridge 236
Byzanthine arch palate 194
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of kidney 32
Congenital small ears 48
Cortical gyral simplification 19
Curvature of digit 57
Curvature of spine 282
Cutaneous finger syndactyly 11
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Downturned corners of mouth 48
Dull intelligence 645
Feeding difficulties 127
Generalized osteopenia 99
Growth delay 114
Growth failure 114
Growth retardation 115
Hypoplasia of corpus callosum 90
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Intellectual disability 1016
Inverted V-shaped upper lip 19
Irregular dentition 3
Joint laxity 54
Low intelligence 645
Malar flattening 129
Malocclusion 57
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Muscle hypotonia 571
Narrow forehead 34
Narrow thorax 53
Nasal bridge wide 236
Orbital separation excessive 244
Osteochondrodysplasias 72
Osteopenia 99
Pachygyria 41
Penile hypospadias 106
Poor growth 114
Poor school performance 645
Prenatal onset 139
Retrusion of upper jaw bones 66
Sacral dimples 18
Sensorineural Hearing Loss (disorder) 284
Short 4th metacarpal 7
Short fourth metatarsals 4
Short palpebral fissure 38
Small midface 105
Tented mouth 19
Tented upper lip 19
Tracheomalacia 22
Very poor growth 114
Wide anterior fontanel 44
Wide cranial sutures 4

Expression

  Differential Expression (14)

 GO Function (1)

Gene RIF (6)

AA Sequence

MQKELGIVPSCPGMKSPRPHLLLPLLLLLLLLLGAGVPGAWGQAGSLDLQIDEEQPAGTLIGDISAGLPA      1 - 70
GTAAPLMYFISAQEGSGVGTDLAIDEHSGVVRTARVLDREQRDRYRFTAVTPDGATVEVTVRVADINDHA     71 - 140
PAFPQARAALQVPEHTAFGTRYPLEPARDADAGRLGTQGYALSGDGAGETFRLETRPGPDGTPVPELVVT    141 - 210
GELDRENRSHYMLQLEAYDGGSPPRRAQALLDVTLLDINDHAPAFNQSRYHAVVSESLAPGSPVLQVFAS    211 - 280
DADAGVNGAVTYEINRRQSEGDGPFSIDAHTGLLQLERPLDFEQRRVHELVVQARDGGAHPELGSAFVTV    281 - 350
HVRDANDNQPSMTVIFLSADGSPQVSEAAPPGQLVARISVSDPDDGDFAHVNVSLEGGEGHFALSTQDSV    351 - 420
IYLVCVARRLDREERDAYNLRVTATDSGSPPLRAEAAFVLHVTDVNDNAPAFDRQLYRPEPLPEVALPGS    421 - 490
FVVRVTARDPDQGTNGQVTYSLAPGAHTHWFSIDPTSGIITTAASLDYELEPQPQLIVVATDGGLPPLAS    491 - 560
SATVSVALQDVNDNEPQFQRTFYNASLPEGTQPGTCFLQVTATDADSGPFGLLSYSLGAGLGSSGSPPFR    561 - 630
IDAHSGDVCTTRTLDRDQGPSSFDFTVTAVDGGGLKSMVYVKVFLSDENDNPPQFYPREYAASISAQSPP    631 - 700
GTAVLRLRAHDPDQGSHGRLSYHILAGNSPPLFTLDEQSGLLTVAWPLARRANSVVQLEIGAEDGGGLQA    701 - 770
EPSARVDISIVPGTPTPPIFEQLQYVFSVPEDVAPGTSVGIVQAHNPPGRLAPVTLSLSGGDPRGLFSLD    771 - 840
AVSGLLQTLRPLDRELLGPVLELEVRAGSGVPPAFAVARVRVLLDDVNDNSPAFPAPEDTVLLPPNTAPG    841 - 910
TPIYTLRALDPDSGVNSRVTFTLLAGGGGAFTVDPTTGHVRLMRPLGPSGGPAHELELEARDGGSPPRTS    911 - 980
HFRLRVVVQDVGTRGLAPRFNSPTYRVDLPSGTTAGTQVLQVQAQAPDGGPITYHLAAEGASSPFGLEPQ    981 - 1050
SGWLWVRAALDREAQELYILKVMAVSGSKAELGQQTGTATVRVSILNQNEHSPRLSEDPTFLAVAENQPP   1051 - 1120
GTSVGRVFATDRDSGPNGRLTYSLQQLSEDSKAFRIHPQTGEVTTLQTLDREQQSSYQLLVQVQDGGSPP   1121 - 1190
RSTTGTVHVAVLDLNDNSPTFLQASGAAGGGLPIQVPDRVPPGTLVTTLQAKDPDEGENGTILYTLTGPG   1191 - 1260
SELFSLHPHSGELLTAAPLIRAERPHYVLTLSAHDQGSPPRSASLQLLVQVLPSARLAEPPPDLAERDPA   1261 - 1330
APVPVVLTVTAAEGLRPGSLLGSVAAPEPAGVGALTYTLVGGADPEGTFALDAASGRLYLARPLDFEAGP   1331 - 1400
PWRALTVRAEGPGGAGARLLRVQVQVQDENEHAPAFARDPLALALPENPEPGAALYTFRASDADGPGPNS   1401 - 1470
DVRYRLLRQEPPVPALRLDARTGALSAPRGLDRETTPALLLLVEATDRPANASRRRAARVSARVFVTDEN   1471 - 1540
DNAPVFASPSRVRLPEDQPPGPAALHVVARDPDLGEAARVSYRLASGGDGHFRLHSSTGALSVVRPLDRE   1541 - 1610
QRAEHVLTVVASDHGSPPRSATQVLTVSVADVNDEAPTFQQQEYSVLLRENNPPGTSLLTLRATDPDVGA   1611 - 1680
NGQVTYGGVSSESFSLDPDTGVLTTLRALDREEQEEINLTVYAQDRGSPPQLTHVTVRVAVEDENDHAPT   1681 - 1750
FGSAHLSLEVPEGQDPQTLTMLRASDPDVGANGQLQYRILDGDPSGAFVLDLASGEFGTMRPLDREVEPA   1751 - 1820
FQLRIEARDGGQPALSATLLLTVTVLDANDHAPAFPVPAYSVEVPEDVPAGTLLLQLQAHDPDAGANGHV   1821 - 1890
TYYLGAGTAGAFLLEPSSGELRTAAALDREQCPSYTFSVSAVDGAAAGPLSTTVSVTITVRDVNDHAPTF   1891 - 1960
PTSPLRLRLPRPGPSFSTPTLALATLRAEDRDAGANASILYRLAGTPPPGTTVDSYTGEIRVARSPVALG   1961 - 2030
PRDRVLFIVATDLGRPARSATGVIIVGLQGEAERGPRFPRASSEATIRENAPPGTPIVSPRAVHAGGTNG   2031 - 2100
PITYSILSGNEKGTFSIQPSTGAITVRSAEGLDFEVSPRLRLVLQAESGGAFAFTVLTLTLQDANDNAPR   2101 - 2170
FLRPHYVAFLPESRPLEGPLLQVEADDLDQGSGGQISYSLAASQPARGLFHVDPTTGTITTTAILDREIW   2171 - 2240
AETRLVLMATDRGSPALVGSATLTVMVIDTNDNRPTIPQPWELRVSEDALLGSEIAQVTGNDVDSGPVLW   2241 - 2310
YVLSPSGPQDPFSVGRYGGRVSLTGPLDFEQCDRYQLQLLAHDGPHEGRANLTVLVEDVNDNAPAFSQSL   2311 - 2380
YQVMLLEHTPPGSAILSVSATDRDSGANGHISYHLASPADGFSVDPNNGTLFTIVGTVALGHDGSGAVDV   2381 - 2450
VLEARDHGAPGRAARATVHVQLQDQNDHAPSFTLSHYRVAVTEDLPPGSTLLTLEATDADGSRSHAAVDY   2451 - 2520
SIISGNWGRVFQLEPRLAEAGESAGPGPRALGCLVLLEPLDFESLTQYNLTVAAADRGQPPQSSVVPVTV   2521 - 2590
TVLDVNDNPPVFTRASYRVTVPEDTPVGAELLHVEASDADPGPHGLVRFTVSSGDPSGLFELDESSGTLR   2591 - 2660
LAHALDCETQARHQLVVQAADPAGAHFALAPVTIEVQDVNDHGPAFPLNLLSTSVAENQPPGTLVTTLHA   2661 - 2730
IDGDAGAFGRLRYSLLEAGPGPEGREAFALNSSTGELRARVPFDYEHTESFRLLVGAADAGNLSASVTVS   2731 - 2800
VLVTGEDEYDPVFLAPAFHFQVPEGARRGHSLGHVQATDEDGGADGLVLYSLATSSPYFGINQTTGALYL   2801 - 2870
RVDSRAPGSGTATSGGGGRTRREAPRELRLEVIARGPLPGSRSATVPVTVDITHTALGLAPDLNLLLVGA   2871 - 2940
VAASLGVVVVLALAALVLGLVRARSRKAEAAPGPMSQAAPLASDSLQKLGREPPSPPPSEHLYHQTLPSY   2941 - 3010
GGPGAGGPYPRGGSLDPSHSSGRGSAEAAEDDEIRMINEFPRVASVASSLAARGPDSGIQQDADGLSDTS   3011 - 3080
CEPPAPDTWYKGRKAGLLLPGAGATLYREEGPPATATAFLGGCGLSPAPTGDYGFPADGKPCVAGALTAI   3081 - 3150
VAGEEELRGSYNWDYLLSWCPQFQPLASVFTEIARLKDEARPCPPAPRIDPPPLITAVAHPGAKSVPPKP   3151 - 3220
ANTAAARAIFPPASHRSPISHEGSLSSAAMSPSFSPSLSPLAARSPVVSPFGVAQGPSASALSAESGLEP   3221 - 3290
PDDTELHI                                                                 3291 - 3298
//

Text Mined References (10)

PMID Year Title