Property Summary

NCBI Gene PubMed Count 63
PubMed Score 282.17
PubTator Score 360.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Seckel syndrome 34
Abnormality of epiphysis morphology 36
Abnormality of female external genitalia 7
Abnormality of the metaphyses 46
Absence of eyebrows 30
Absent earlobe 9
Accessory proximal metacarpal ossification centers 7
Acquired scoliosis 274
Agenesis of teeth 21
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 30
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 1
Autosomal recessive predisposition 1407
Bilateral fifth finger clinodactyly 109
Bipolar Disorder 646
Birthmark 35
Brachydactyly 154
Brain Aneurysm 8
Broad flat nasal bridge 232
Cachexia 50
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Cerebral arterial aneurysm 8
Chubby cheeks 49
Cognitive delay 596
Cone-shaped epiphyses 24
Congenital small ears 46
Convex nasal bridge 56
Convex nasal ridge 36
Craniosynostosis 73
Curvature of little finger 109
Curvature of spine 275
Decreased size of teeth 62
Decreased width of tooth 59
Defective enamel matrix 34
Defective tooth enamel 29
Delayed bone age 132
Dental Enamel Hypoplasia 42
Diabetes Mellitus, Non-Insulin-Dependent 140
Downward slant of palpebral fissure 158
Dry skin 74
Dull intelligence 634
Dysplasia of tooth enamel 34
Dystrophic tooth enamel 29
Enamel abnormalities 29
Fetal Growth Retardation 186
Fine hair 42
Full cheeks 49
Glaucoma 232
Global developmental delay 596
High pitched voice 23
Hip Dislocation, Congenital 46
Hip joint varus deformity - observation 23
Hypernasal voice 39
Hyperopia 68
Hyperplasia of cheeks 49
Hyperplasia of nose 22
Hypertrophy of cheeks 49
Hypertrophy of nose 22
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 273
Impaired cognition 95
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Joint hyperflexibility 76
Large nose 22
Low intelligence 634
Low set ears 178
Major Depressive Disorder 293
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Microdontia (disorder) 59
Micrognathism 273
Micromelia 58
Mild global developmental delay 14
Moyamoya phenomenon 3
Narrow face 54
Narrow pelvis 6
Nasal bridge wide 232
Nasal voice 39
Nonorganic psychosis 83
Obesity, Abdominal 23
Penile hypospadias 102
Poor school performance 634
Postnatal growth retardation 56
Precocious Puberty 27
Precociously senile appearance 18
Prominent nasal bridge 56
Psychomotor retardation, mild 14
Psychotic Disorders 150
Puffy cheeks 49
Radial bowing 12
Reduced number of teeth 21
Retrognathia 53
Sandal gap 24
Schizophrenia 1136
Sensorineural Hearing Loss (disorder) 281
Short distal phalanges 49
Short first metacarpals 11
Short stature 514
Short stature, disproportionate 8
Short stature, severe disproportionate 8
Skull malformation 37
Slender, gracile long tubular bones 21
Slipped Capital Femoral Epiphyses 3
Sloping forehead 46
Small head 366
Sparse or absent eyebrows 30
Sparse scalp hair 41
Sparse/absent eyebrows 30
Splayed metaphyses 18
Thin dental enamel 34
Thin face 54
Thin hypoplastic alae nasi 50
Tibial bowing 17
Ulnar bowing 9
Unipolar Depression 244
Upward slant of palpebral fissure 74
Xerosis 74
hypopigmented skin patch 59

Expression

  Differential Expression (6)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.200 9.6e-03
medulloblastoma, large-cell -1.100 2.2e-04
osteosarcoma -1.830 3.8e-06
ovarian cancer 1.600 6.6e-06
Pick disease -1.600 9.4e-06
sonic hedgehog group medulloblastoma 1.500 9.2e-03

 GWAS Trait (1)

Gene RIF (35)

AA Sequence

MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDIC      1 - 70
KSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPP     71 - 140
EQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPEQRGMFTVSDHTPEQRGIFTISDHPAEQRGM    141 - 210
FTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTEL    211 - 280
REMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDW    281 - 350
ESEKDLCLENLRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLR    351 - 420
EDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSELHEQ    421 - 490
LLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTLLQQRLQGAREDALLDSVEVG    491 - 560
LSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEESHRHQLEALESPLCIQHEGHVSDRCCVETSA    561 - 630
LGHEWRLEPSEGHSQELPWVHLQGVQDGDLEADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENR    631 - 700
NLYGKLQHETRLKDDLEKVKHNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLM    701 - 770
LLELREKAESEKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCG    771 - 840
REPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARELQLLQERHQQ    841 - 910
QLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGALETRHLSSLDSLESCYLSEFQ    911 - 980
TIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLKRKHEGELQSVRDHLRTEVSTELAGTVAHEL    981 - 1050
QGVHQGEFGSEKKTALHEKEETLRLQSAQAQPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECR   1051 - 1120
SELEVLQQRRERENREGANLLSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLC   1121 - 1190
LDDAGAGLALSTAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVF   1191 - 1260
QSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEESAAKAELALEL   1261 - 1330
HKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQAALREECTRLWSRGEATATDA   1331 - 1400
EAREAALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILESELEEQLSQHRGCAKQAEAVTALEQQVASL   1401 - 1470
DKHLRNQRQFMDEQAAEREHEREEFQQEIQRLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKL   1471 - 1540
DEFNELAIQKESADRQVLMQEEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSL   1541 - 1610
LLASTLQSTLDAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLN   1611 - 1680
LKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIEQLHEVIEKLQ   1681 - 1750
HELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKEALSRLLADQERRHSQALEAL   1751 - 1820
QQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFEAALKAKEATIAERNLEIDALNQRKAAHSAE   1821 - 1890
LEAVLLALARIRRALEQQPLAAGAAPPELQWLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTR   1891 - 1960
VPGAHPQPRMDGGAKAQVTGDVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQL   1961 - 2030
QSELLLVKNEMRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPM   2031 - 2100
ASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVTDVIKNWDSLI   2101 - 2170
PDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLDLSSWSSPEVLRKDWTLEPWP   2171 - 2240
SLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSPGVSAAALALQWAESPPADDHHVQRTAVEKD   2241 - 2310
VEDFITTSFDSQETLSSPPPGLEGKADRSEKSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPE   2311 - 2380
AMKEKEVRPKHVKALLQMVRDESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWR   2381 - 2450
GDLLQVVQEAFEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSE   2451 - 2520
IQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGDLQKTLSEEQE   2521 - 2590
KANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSMLSSKENELKAALQELESEQG   2591 - 2660
KGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQSSRLCVALKHEQTAKDNLQKELRIEHSRCE   2661 - 2730
ALLAQERSQLSELQKDLAAEKSRTLELSEALRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSR   2731 - 2800
VVDLQAMLEKVQQQALHSQQQLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAW   2801 - 2870
LQAELEQSHPRLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRD   2871 - 2940
LESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRTVNDWTSSNEK   2941 - 3010
AVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALSTVTQEKLELSRAVSKLEKLL   3011 - 3080
KHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPAASEEAHTSNVKMEKLYLHYLRAESFRKALI   3081 - 3150
YQKKYLLLLIGGFQDSEQETLSMIAHLGVFPSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVD   3151 - 3220
RKGALAQGKAPRPGPRARQPQSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLE   3221 - 3290
RSLTASQDPEHSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ                           3291 - 3336
//

Text Mined References (70)

PMID Year Title