Property Summary

NCBI Gene PubMed Count 113
PubMed Score 402.88
PubTator Score 141.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
FG syndrome 16
Intellectual disability 1016
Blepharophimosis 70
Abnormality of the nasopharynx 9
Abnormality of the rib cage 12
Abnormally folded helix 2
Acquired scoliosis 281
Agenesis of corpus callosum 83
Aggressive behavior 75
Aggressive reaction 75
Aneurysm of ascending aorta 5
Anteriorly placed anus 7
Anus, Imperforate 46
Arachnodactyly 49
Asymmetry of the posterior cranium 20
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Autistic Disorder 364
Big calvaria 147
Birthmark 35
Blepharoptosis 231
Broad flat nasal bridge 236
Broad hallux 29
Broad thumbs 28
Bulbous nasal tip 48
Bulbous nose 48
Bulging forehead 66
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Choanal Atresia 42
Claw hand 26
Cleft Lip 141
Cleft Palate 271
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital clinodactyly 57
Congenital deafness 185
Congenital heart disease 93
Congenital malrotation of intestine 16
Constipation 181
Contracture 96
Contracture of joint 93
Contracture of joint of hand 30
Convex nasal bridge 57
Cryptorchidism 296
Curvature of digit 57
Curvature of spine 282
Deafness 198
Decreased projection of maxilla 66
Deep philtrum 21
Deficiency of upper jaw bones 66
Delayed closure of the soft spot on the skull 11
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Depressive disorder 409
Disorder of the genitourinary system 6
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Ectopic Tissue 14
Epilepsy 792
Feeding difficulties 127
Fine hair 42
Flattening of cranial vault 20
Flattening of head 20
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Full lower lip 64
Generalized hypotonia 37
Genitourinary dysplasia 6
Global developmental delay 608
Hair whorls 3
Hearing Loss, Partial 185
Hernia, Inguinal 89
High forehead 102
High pitched voice 23
Hydrocephalus 152
Hyperactive behavior 91
Hypernasal voice 39
Hyperplasia of nose 23
Hypertrophy of nose 23
Hypoplasia of scrotum 24
Hypoplasia of the maxilla 66
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 275
Hypotrophic maxilla 66
Inadequate arch length for tooth size 45
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint hyperflexibility 78
Joint laxity 54
Joint swelling onset late infancy 1
Large nose 23
Late closure of anterior fontanel 11
Long face 71
Long nose 15
Long philtrum 137
Low frustration tolerance 2
Low intelligence 645
Low set ears 181
Lumbar lordosis 35
Macrocephaly, postnatal 2
Macroorchidism 7
Macrostomia 72
Major Depressive Disorder 301
Mammary Neoplasms 425
Mandibular hypoplasia 275
Marfanoid body habitus 11
Maxillary retrognathia 66
Mental Depression 333
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microstomia 78
Microtia, first degree 3
Mood swings 77
Motor delay 147
Muscle hypotonia 571
Narrow face 54
Narrow nose 20
Narrow palate 20
Nasal bridge wide 236
Nasal voice 39
Neonatal Hypotonia 64
No development of motor milestones 147
Nonorganic psychosis 84
Obsessive compulsive behavior 25
Ohdo syndrome, Maat-Kievit-Brunner type 1
Open mouth 45
Orbital separation excessive 244
Partial agenesis of corpus callosum 9
Partial or complete agenesis of corpus callosum 9
Pectus excavatum 100
Penile hypospadias 106
Physical aggression 76
Pinched bridge of nose 14
Pinched nasal bridge 14
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor school performance 645
Potato nose 48
Prominent fingertip pads 6
Prominent forehead 66
Prominent lower lip 64
Prominent nasal bridge 57
Psychotic Disorders 151
Pyloric Stenosis 47
Radially deviated fingers 38
Range of joint movement increased 32
Retrusion of upper jaw bones 66
Rhomboid shaped head 20
Sacral dimples 18
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short neck 140
Short philtrum 53
Short stature 531
Single transverse palmar crease 29
Skin tag 14
Smooth philtrum 43
Social Communication Disorder 4
Sparse hair 59
Speech Disorders 58
Sternal anomalies 19
Strabismus 270
Stricture of anus 13
Syndactyly 88
Tall forehead 102
Thickened facial skin with coarse facial features 108
Thin face 54
Thin lips 49
Thin upper lip vermilion 67
Thin, sparse hair 59
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Umbilical hernia 93
Underweight 17
Unipolar Depression 250
Upswept frontal hair pattern 3
Upswept frontal hairline 3
Uranostaphyloschisis 167
Urogenital Abnormalities 9
Ventricular Septal Defects 119
Weight decreased 103
Weight less than 3rd percentile 17
Wide anterior fontanel 44
Wrinkled face 2
X- linked recessive 110
hearing impairment 199
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 5.0

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytoma 1.100 1.4e-02
atypical teratoid / rhabdoid tumor 1.100 9.5e-06
medulloblastoma 1.100 4.9e-05
medulloblastoma, large-cell 1.300 9.8e-05
oligodendroglioma 1.300 4.8e-03
osteosarcoma -1.969 6.1e-05
psoriasis -1.300 1.4e-04

Gene RIF (86)

AA Sequence

MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKIS      1 - 70
SNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKE     71 - 140
EVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPA    141 - 210
GSGGCGSTIGPLPHDVEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLL    211 - 280
LRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLL    281 - 350
MCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK    351 - 420
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPS    421 - 490
KDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSIASGSLSA    491 - 560
PSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPG    561 - 630
PRPPSPFDDPADDPEHKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPS    631 - 700
PEKPDVEKEVKPPPKEKIEGTLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHA    701 - 770
IKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYD    771 - 840
QHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLK    841 - 910
SSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYT    911 - 980
SCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANR    981 - 1050
YSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVS   1051 - 1120
DLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQS   1121 - 1190
DGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGG   1191 - 1260
RRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRL   1261 - 1330
LDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLENIAKATIEVFQQSAETGSSS   1331 - 1400
GSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQ   1401 - 1470
KSMSLLSQQPFLSLVLTCLKGQDEQREGLLTSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLV   1471 - 1540
GGMFDTVQRSTQQTTEWAMLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENK   1541 - 1610
RAYMNLAKKLQKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVS   1611 - 1680
TKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEE   1681 - 1750
PPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTEDYGMGPGRSGPYGVTVPPDL   1751 - 1820
LHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMTGVMGLEP   1821 - 1890
SSYKTSVYRQQQPAVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPA   1891 - 1960
GTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTM   1961 - 2030
TPMSAQGVQAGVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ   2031 - 2100
QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPS   2101 - 2170
TNIFGRY                                                                  2171 - 2177
//

Text Mined References (124)

PMID Year Title