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 39
Abnormality of female external genitalia 8
Abnormality of the metaphyses 48
Absence of eyebrows 31
Absent earlobe 9
Accessory proximal metacarpal ossification centers 7
Acquired scoliosis 281
Agenesis of teeth 21
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 1
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bipolar Disorder 666
Birthmark 35
Brachydactyly 156
Brain Aneurysm 8
Broad flat nasal bridge 236
Cachexia 50
Cafe au lait spots, multiple 17
Cafe-au-Lait Spots 37
Cerebral arterial aneurysm 8
Chubby cheeks 50
Cognitive delay 608
Cone-shaped epiphyses 24
Congenital small ears 48
Convex nasal bridge 57
Convex nasal ridge 37
Craniosynostosis 74
Curvature of little finger 110
Curvature of spine 282
Decreased size of teeth 62
Decreased width of tooth 59
Defective enamel matrix 35
Defective tooth enamel 31
Delayed bone age 136
Dental Enamel Hypoplasia 43
Diabetes Mellitus, Non-Insulin-Dependent 145
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Dysplasia of tooth enamel 35
Dystrophic tooth enamel 31
Enamel abnormalities 31
Fetal Growth Retardation 189
Fine hair 42
Full cheeks 50
Glaucoma 239
Global developmental delay 608
High pitched voice 23
Hip Dislocation, Congenital 48
Hip joint varus deformity - observation 24
Hypernasal voice 39
Hyperopia 70
Hyperplasia of cheeks 50
Hyperplasia of nose 23
Hypertrophy of cheeks 50
Hypertrophy of nose 23
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Impaired cognition 96
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint hyperflexibility 78
Large nose 23
Low intelligence 645
Low set ears 181
Major Depressive Disorder 301
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microdontia (disorder) 59
Micrognathism 275
Micromelia 58
Mild global developmental delay 14
Moyamoya phenomenon 3
Narrow face 54
Narrow pelvis 6
Nasal bridge wide 236
Nasal voice 39
Nonorganic psychosis 84
Obesity, Abdominal 24
Penile hypospadias 106
Poor school performance 645
Postnatal growth retardation 57
Precocious Puberty 28
Precociously senile appearance 18
Prominent nasal bridge 57
Psychomotor retardation, mild 14
Psychotic Disorders 151
Puffy cheeks 50
Radial bowing 13
Reduced number of teeth 21
Retrognathia 54
Sandal gap 24
Schizophrenia 1160
Sensorineural Hearing Loss (disorder) 284
Short distal phalanges 50
Short first metacarpals 11
Short stature 531
Short stature, disproportionate 9
Short stature, severe disproportionate 9
Skull malformation 38
Slender, gracile long tubular bones 21
Slipped Capital Femoral Epiphyses 3
Sloping forehead 46
Small head 374
Sparse or absent eyebrows 31
Sparse scalp hair 42
Sparse/absent eyebrows 31
Splayed metaphyses 19
Thin dental enamel 35
Thin face 54
Thin hypoplastic alae nasi 51
Tibial bowing 19
Ulnar bowing 10
Unipolar Depression 250
Upward slant of palpebral fissure 75
Xerosis 75
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