Property Summary

NCBI Gene PubMed Count 66
PubMed Score 18.44
PubTator Score 49.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Acquired scoliosis 281
Aggressive behavior 75
Aggressive reaction 75
Almond-shaped eyes 23
Asymmetry of the posterior cranium 20
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Class III malocclusion 78
Clitoral hypoplasia 11
Cognitive delay 608
Congenital clinodactyly 57
Congenital hypoplasia of penis 176
Curvature of digit 57
Curvature of spine 282
Decreased muscle mass 28
Decreased pain sensation 17
Delayed Puberty 97
Delayed speech and language development 112
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Dull intelligence 645
Failure to thrive in infancy 32
Flattening of cranial vault 20
Flattening of head 20
Gait, Unsteady 29
Generalized hypopigmentation 12
Generalized hypotonia 37
Global developmental delay 608
Hyperactive behavior 91
Hyperinsulinism 133
Hyperkyphosis 111
Hypernasal voice 39
Hyperopia 70
Hyperphagia 23
Hypertrophy of lower jaw 78
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic feet 66
Hypoplastic labia minora 10
Hypoventilation 8
Increased appetite (finding) 23
Increased size of mandible 78
Infantile onset 238
Infertility 188
Intellectual disability 1016
Isolated cases 72
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Language Delay 112
Long narrow head 75
Low intelligence 645
Mandibular hyperplasia 78
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Motor delay 147
Muscle hypotonia 571
Narrow cranium shape 75
Narrow forehead 34
Narrow hands 6
Narrow head shape 75
Narrow nose 20
Narrow palate 20
Narrow skull shape 75
Nasal voice 39
No development of motor milestones 147
Obesity 678
Obesity, Abdominal 24
Oligomenorrhea 16
Photosensitivity of skin 51
Physical aggression 76
Pinched bridge of nose 14
Pinched nasal bridge 14
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor gross motor coordination 6
Poor school performance 645
Poor suck 17
Recurrent respiratory infections 141
Reduced fetal movement 51
Respiratory Depression 10
Rhomboid shaped head 20
Sandal gap 24
Schizophrenia 1160
Self Mutilation 14
Short hands 50
Short stature 531
Sleep Apnea Syndromes 13
Small hand 36
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Strabismus 270
Thin upper lip vermilion 67
Turridolichocephaly 75
blue iris (physical finding) 17
mandibular excess (physical finding) 78
ulcerative colitis 1819
Disease Target Count P-value
Amyotrophic lateral sclerosis 451 1.2e-05
osteosarcoma 7950 5.0e-05
glioblastoma 5792 1.5e-04
ovarian cancer 8520 1.9e-04
Pick disease 1894 4.4e-04
Disease Target Count Z-score Confidence
Inflammatory bowel disease 151 0.0 1.2
Vitiligo 73 0.0 3.0
Disease Target Count Z-score Confidence
Ocular albinism 26 3.924 2.0
Oculocutaneous albinism 29 3.205 1.6

Expression

  Differential Expression (5)

Disease log2 FC p
Amyotrophic lateral sclerosis 1.043 1.2e-05
glioblastoma -1.300 1.5e-04
osteosarcoma -1.733 5.0e-05
ovarian cancer -1.300 1.9e-04
Pick disease -1.200 4.4e-04

Protein-protein Interaction (9)

Gene RIF (51)

AA Sequence

MPSESFCLAAQARLDSKWLKTDIQLAFTRDGLCGLWNEMVKDGEIVYTGTESTQNGELPPRKDDSVEPSG      1 - 70
TKKEDLNDKEKKDEEETPAPIYRAKSILDSWVWGKQPDVNELKECLSVLVKEQQALAVQSATTTLSALRL     71 - 140
KQRLVILERYFIALNRTVFQENVKVKWKSSGISLPPVDKKSSRPAGKGVEGLARVGSRAALSFAFAFLRR    141 - 210
AWRSGEDADLCSELLQESLDALRALPEASLFDESTVSSVWLEVVERATRFLRSVVTGDVHGTPATKGPGS    211 - 280
IPLQDQHLALAILLELAVQRGTLSQMLSAILLLLQLWDSGAQETDNERSAQGTSAPLLPLLQRFQSIICR    281 - 350
KDAPHSEGDMHLLSGPLSPNESFLRYLTLPQDNELAIDLRQTAVVVMAHLDRLATPCMPPLCSSPTSHKG    351 - 420
SLQEVIGWGLIGWKYYANVIGPIQCEGLANLGVTQIACAEKRFLILSRNGRVYTQAYNSDTLAPQLVQGL    421 - 490
ASRNIVKIAAHSDGHHYLALAATGEVYSWGCGDGGRLGHGDTVPLEEPKVISAFSGKQAGKHVVHIACGS    491 - 560
TYSAAITAEGELYTWGRGNYGRLGHGSSEDEAIPMLVAGLKGLKVIDVACGSGDAQTLAVTENGQVWSWG    561 - 630
DGDYGKLGRGGSDGCKTPKLIEKLQDLDVVKVRCGSQFSIALTKDGQVYSWGKGDNQRLGHGTEEHVRYP    631 - 700
KLLEGLQGKKVIDVAAGSTHCLALTEDSEVHSWGSNDQCQHFDTLRVTKPEPAALPGLDTKHIVGIACGP    701 - 770
AQSFAWSSCSEWSIGLRVPFVVDICSMTFEQLDLLLRQVSEGMDGSADWPPPQEKECVAVATLNLLRLQL    771 - 840
HAAISHQVDPEFLGLGLGSILLNSLKQTVVTLASSAGVLSTVQSAAQAVLQSGWSVLLPTAEERARALSA    841 - 910
LLPCAVSGNEVNISPGRRFMIDLLVGSLMADGGLESALHAAITAEIQDIEAKKEAQKEKEIDEQEANAST    911 - 980
FHRSRTPLDKDLINTGICESSGKQCLPLVQLIQQLLRNIASQTVARLKDVARRISSCLDFEQHSRERSAS    981 - 1050
LDLLLRFQRLLISKLYPGESIGQTSDISSPELMGVGSLLKKYTALLCTHIGDILPVAASIASTSWRHFAE   1051 - 1120
VAYIVEGDFTGVLLPELVVSIVLLLSKNAGLMQEAGAVPLLGGLLEHLDRFNHLAPGKERDDHEELAWPG   1121 - 1190
IMESFFTGQNCRNNEEVTLIRKADLENHNKDGGFWTVIDGKVYDIKDFQTQSLTGNSILAQFAGEDPVVA   1191 - 1260
LEAALQFEDTRESMHAFCVGQYLEPDQEIVTIPDLGSLSSPLIDTERNLGLLLGLHASYLAMSTPLSPVE   1261 - 1330
IECAKWLQSSIFSGGLQTSQIHYSYNEEKDEDHCSSPGGTPASKSRLCSHRRALGDHSQAFLQAIADNNI   1331 - 1400
QDHNVKDFLCQIERYCRQCHLTTPIMFPPEHPVEEVGRLLLCCLLKHEDLGHVALSLVHAGALGIEQVKH   1401 - 1470
RTLPKSVVDVCRVVYQAKCSLIKTHQEQGRSYKEVCAPVIERLRFLFNELRPAVCNDLSIMSKFKLLSSL   1471 - 1540
PRWRRIAQKIIRERRKKRVPKKPESTDDEEKIGNEESDLEEACILPHSPINVDKRPIAIKSPKDKWQPLL   1541 - 1610
STVTGVHKYKWLKQNVQGLYPQSPLLSTIAEFALKEEPVDVEKMRKCLLKQLERAEVRLEGIDTILKLAS   1611 - 1680
KNFLLPSVQYAMFCGWQRLIPEGIDIGEPLTDCLKDVDLIPPFNRMLLEVTFGKLYAWAVQNIRNVLMDA   1681 - 1750
SAKFKELGIQPVPLQTITNENPSGPSLGTIPQARFLLVMLSMLTLQHGANNLDLLLNSGMLALTQTALRL   1751 - 1820
IGPSCDNVEEDMNASAQGASATVLEETRKETAPVQLPVSGPELAAMMKIGTRVMRGVDWKWGDQDGPPPG   1821 - 1890
LGRVIGELGEDGWIRVQWDTGSTNSYRMGKEGKYDLKLAELPAAAQPSAEDSDTEDDSEAEQTERNIHPT   1891 - 1960
AMMFTSTINLLQTLCLSAGVHAEIMQSEATKTLCGLLRMLVESGTTDKTSSPNRLVYREQHRSWCTLGFV   1961 - 2030
RSIALTPQVCGALSSPQWITLLMKVVEGHAPFTATSLQRQILAVHLLQAVLPSWDKTERARDMKCLVEKL   2031 - 2100
FDFLGSLLTTCSSDVPLLRESTLRRRRVRPQASLTATHSSTLAEEVVALLRTLHSLTQWNGLINKYINSQ   2101 - 2170
LRSITHSFVGRPSEGAQLEDYFPDSENPEVGGLMAVLAVIGGIDGRLRLGGQVMHDEFGEGTVTRITPKG   2171 - 2240
KITVQFSDMRTCRVCPLNQLKPLPAVAFNVNNLPFTEPMLSVWAQLVNLAGSKLEKHKIKKSTKQAFAGQ   2241 - 2310
VDLDLLRCQQLKLYILKAGRALLSHQDKLRQILSQPAVQETGTVHTDDGAVVSPDLGDMSPEGPQPPMIL   2311 - 2380
LQQLLASATQPSPVKAIFDKQELEAAALAVCQCLAVESTHPSSPGFEDCSSSEATTPVAVQHIRPARVKR   2381 - 2450
RKQSPVPALPIVVQLMEMGFSRRNIEFALKSLTGASGNASSLPGVEALVGWLLDHSDIQVTELSDADTVS   2451 - 2520
DEYSDEEVVEDVDDAAYSMSTGAVVTESQTYKKRADFLSNDDYAVYVRENIQVGMMVRCCRAYEEVCEGD   2521 - 2590
VGKVIKLDRDGLHDLNVQCDWQQKGGTYWVRYIHVELIGYPPPSSSSHIKIGDKVRVKASVTTPKYKWGS   2591 - 2660
VTHQSVGVVKAFSANGKDIIVDFPQQSHWTGLLSEMELVPSIHPGVTCDGCQMFPINGSRFKCRNCDDFD   2661 - 2730
FCETCFKTKKHNTRHTFGRINEPGQSAVFCGRSGKQLKRCHSSQPGMLLDSWSRMVKSLNVSSSVNQASR   2731 - 2800
LIDGSEPCWQSSGSQGKHWIRLEIFPDVLVHRLKMIVDPADSSYMPSLVVVSGGNSLNNLIELKTININP   2801 - 2870
SDTTVPLLNDCTEYHRYIEIAIKQCRSSGIDCKIHGLILLGRIRAEEEDLAAVPFLASDNEEEEDEKGNS   2871 - 2940
GSLIRKKAAGLESAATIRTKVFVWGLNDKDQLGGLKGSKIKVPSFSETLSALNVVQVAGGSKSLFAVTVE   2941 - 3010
GKVYACGEATNGRLGLGISSGTVPIPRQITALSSYVVKKVAVHSGGRHATALTVDGKVFSWGEGDDGKLG   3011 - 3080
HFSRMNCDKPRLIEALKTKRIRDIACGSSHSAALTSSGELYTWGLGEYGRLGHGDNTTQLKPKMVKVLLG   3081 - 3150
HRVIQVACGSRDAQTLALTDEGLVFSWGDGDFGKLGRGGSEGCNIPQNIERLNGQGVCQIECGAQFSLAL   3151 - 3220
TKSGVVWTWGKGDYFRLGHGSDVHVRKPQVVEGLRGKKIVHVAVGALHCLAVTDSGQVYAWGDNDHGQQG   3221 - 3290
NGTTTVNRKPTLVQGLEGQKITRVACGSSHSVAWTTVDVATPSVHEPVLFQTARDPLGASYLGVPSDADS   3291 - 3360
SAASNKISGASNSKPNRPSLAKILLSLDGNLAKQQALSHILTALQIMYARDAVVGALMPAAMIAPVECPS   3361 - 3430
FSSAAPSDASAMASPMNGEECMLAVDIEDRLSPNPWQEKREIVSSEDAVTPSAVTPSAPSASARPFIPVT   3431 - 3500
DDLGAASIIAETMTKTKEDVESQNKAAGPEPQALDEFTSLLIADDTRVVVDLLKLSVCSRAGDRGRDVLS   3501 - 3570
AVLSGMGTAYPQVADMLLELCVTELEDVATDSQSGRLSSQPVVVESSHPYTDDTSTSGTVKIPGAEGLRV   3571 - 3640
EFDRQCSTERRHDPLTVMDGVNRIVSVRSGREWSDWSSELRIPGDELKWKFISDGSVNGWGWRFTVYPIM   3641 - 3710
PAAGPKELLSDRCVLSCPSMDLVTCLLDFRLNLASNRSIVPRLAASLAACAQLSALAASHRMWALQRLRK   3711 - 3780
LLTTEFGQSININRLLGENDGETRALSFTGSALAALVKGLPEALQRQFEYEDPIVRGGKQLLHSPFFKVL   3781 - 3850
VALACDLELDTLPCCAETHKWAWFRRYCMASRVAVALDKRTPLPRLFLDEVAKKIRELMADSENMDVLHE   3851 - 3920
SHDIFKREQDEQLVQWMNRRPDDWTLSAGGSGTIYGWGHNHRGQLGGIEGAKVKVPTPCEALATLRPVQL   3921 - 3990
IGGEQTLFAVTADGKLYATGYGAGGRLGIGGTESVSTPTLLESIQHVFIKKVAVNSGGKHCLALSSEGEV   3991 - 4060
YSWGEAEDGKLGHGNRSPCDRPRVIESLRGIEVVDVAAGGAHSACVTAAGDLYTWGKGRYGRLGHSDSED   4061 - 4130
QLKPKLVEALQGHRVVDIACGSGDAQTLCLTDDDTVWSWGDGDYGKLGRGGSDGCKVPMKIDSLTGLGVV   4131 - 4200
KVECGSQFSVALTKSGAVYTWGKGDYHRLGHGSDDHVRRPRQVQGLQGKKVIAIATGSLHCVCCTEDGEV   4201 - 4270
YTWGDNDEGQLGDGTTNAIQRPRLVAALQGKKVNRVACGSAHTLAWSTSKPASAGKLPAQVPMEYNHLQE   4271 - 4340
IPIIALRNRLLLLHHLSELFCPCIPMFDLEGSLDETGLGPSVGFDTLRGILISQGKEAAFRKVVQATMVR   4341 - 4410
DRQHGPVVELNRIQVKRSRSKGGLAGPDGTKSVFGQMCAKMSSFGPDSLLLPHRVWKVKFVGESVDDCGG   4411 - 4480
GYSESIAEICEELQNGLTPLLIVTPNGRDESGANRDCYLLSPAARAPVHSSMFRFLGVLLGIAIRTGSPL   4481 - 4550
SLNLAEPVWKQLAGMSLTIADLSEVDKDFIPGLMYIRDNEATSEEFEAMSLPFTVPSASGQDIQLSSKHT   4551 - 4620
HITLDNRAEYVRLAINYRLHEFDEQVAAVREGMARVVPVPLLSLFTGYELETMVCGSPDIPLHLLKSVAT   4621 - 4690
YKGIEPSASLIQWFWEVMESFSNTERSLFLRFVWGRTRLPRTIADFRGRDFVIQVLDKYNPPDHFLPESY   4691 - 4760
TCFFLLKLPRYSCKQVLEEKLKYAIHFCKSIDTDDYARIALTGEPAADDSSDDSDNEDVDSFASDSTQDY   4761 - 4830
LTGH                                                                     4831 - 4834
//

Text Mined References (74)

PMID Year Title