Property Summary

Ligand Count 25
NCBI Gene PubMed Count 545
PubMed Score 6016.68
PubTator Score 3116.19

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Epilepsy 792
Intellectual disability 1016
Abnormal number of teeth 2
Abnormality of refraction 2
Acquired flat foot 72
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Adenoid Cystic Carcinoma 99
Agenesis of corpus callosum 83
Agoraphobia 21
Alcoholic Intoxication, Chronic 289
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Atrial Septal Defects 85
Auricular malformation 41
Autistic Disorder 364
Bifid uterus 4
Bilateral fifth finger clinodactyly 110
Birthmark 35
Bladder Neoplasm 112
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Broad hallux 29
Broad thumbs 28
Bushy eyebrows 49
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cataract 297
Cervical vertebral abnormalities 6
Chorioretinal dystrophy 4
Cognitive delay 608
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital anomaly of the kidney 12
Congenital deafness 185
Congenital dislocation of radial head 14
Congenital ocular coloboma (disorder) 40
Constipation 181
Contracture 96
Contracture of joint 93
Convex nasal ridge 37
Corneal abnormalities 6
Cornela disease 6
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased projection of maxilla 66
Deep overbite 4
Defective enamel matrix 35
Deficiency of upper jaw bones 66
Delayed bone age 136
Delayed speech and language development 112
Dens evaginatus 3
Dental Enamel Hypoplasia 43
Dental caries 164
Deviated nasal septum 2
Downward slant of palpebral fissure 158
Duane Retraction Syndrome 13
Dull intelligence 645
Dyschezia 135
Dysplasia of tooth enamel 35
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Enophthalmos 75
Exophthalmos 112
Extra cusp on inside of front tooth 3
Facial grimacing 3
Failure to gain weight 365
Feeding difficulties in infancy 175
Flared iliac wings 13
Flatfoot 73
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Gait, Unsteady 29
Glaucoma 239
Global developmental delay 608
Globe retraction and deviation on adduction 3
Hair whorls 3
Hallucal duplication 3
Hearing Loss, Partial 185
Hereditary nonpolyposis colorectal carcinoma 18
High axial triradius 2
Highly variable severity 157
Hirschsprung Disease 31
Hirsutism 47
Hyperactive behavior 91
Hyperplasia of foramen magnum 6
Hyperplasia of nose 23
Hyperreflexia 209
Hypertrophy of nose 23
Hypoplasia of the maxilla 66
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Hypotrophic maxilla 66
Impulsive Behavior 9
Inadequate arch length for tooth size 45
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Increased gastric cancer 21
Isolated cases 72
Joint laxity 54
Keloid 37
Kidney Diseases 114
Lacrimal Duct Obstruction 16
Language Delay 112
Large foramen magnum 6
Large nose 23
Laryngomalacia 14
Late fontanel closure 28
Legg-Calve-Perthes disease 14
Leiomyosarcoma of uterus 13
Lens Opacities 231
Limited eye motility from Duane anomaly 3
Long eyelashes 37
Low anterior hairline 30
Low hanging columella 4
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Malocclusion 57
Mammary Neoplasms 425
Mandibular hypoplasia 275
Maxillary retrognathia 66
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microstomia 78
Mild Mental Retardation 70
Mirror movements disorder 8
Muscle hypotonia 571
Narrow palate 20
Nasal bridge wide 236
Obesity, Abdominal 24
Obstruction of nasolacrimal duct 9
Overbite 4
Papillary cystadenoma of the epididymis 3
Partial/complete duplication of the phalanges of the hallux 3
Patent ductus arteriosus 90
Pectus excavatum 100
Pediatric failure to thrive 365
Penile hypospadias 106
Phonophobia 11
Plantar crease between first and second toes 2
Polydactyly 107
Polyhydramnios 108
Poor coordination 11
Poor school performance 645
Posterior lingual occlusion of mandibular teeth 4
Postnatal growth retardation 57
Premature development of the breasts 5
Prenatal onset 139
Prominent eyes 96
Prominent fingertip pads 6
Prominent globes 96
Protruding eyes 96
RUBINSTEIN-TAYBI SYNDROME 2 1
Radial deviation of thumb terminal phalanx 2
Recurrent upper respiratory tract infection 21
Reduced concentration span 9
Renal Cell Carcinoma 214
Respiratory distress 43
Retrognathia 54
Retrusion of upper jaw bones 66
Rotting teeth 73
Rounded columella 4
Seizures 596
Self Mutilation 14
Shawl scrotum 9
Short stature 531
Simple ear 41
Single transverse palmar crease 29
Sleep Apnea, Obstructive 10
Small cell carcinoma of lung 45
Small head 374
Speech Delay 112
Speech impairment 112
Spina bifida occulta 19
Squamous cell carcinoma 129
Squamous cell carcinoma of esophagus 77
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Stomach Neoplasms 300
Strabismus 270
Strawberry nevus of skin 10
Sunken eyes 63
Syndactyly 88
T-Cell Lymphoma 13
Talon cusp 3
Tethered Cord Syndrome 7
Thick, flared eyebrows 41
Thin dental enamel 35
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Transitional cell carcinoma of bladder 17
Upswept frontal hair pattern 3
Upswept frontal hairline 3
Variable expressivity 157
Vascular ring 3
Ventricular Septal Defects 119
Wide anterior fontanel 44
hearing impairment 199
Disease Target Count Z-score Confidence
Crohn's disease 321 0.0 3.0
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 5.0

Expression

  Differential Expression (10)

Disease log2 FC p
acute myeloid leukemia 1.200 7.6e-03
adult high grade glioma -1.100 6.4e-03
intraductal papillary-mucinous carcinoma... 1.100 1.7e-02
intraductal papillary-mucinous neoplasm ... 1.200 8.8e-03
osteosarcoma -1.764 9.3e-05
ovarian cancer -2.200 4.2e-14
psoriasis -1.100 1.1e-07
Rheumatoid arthritis 1.500 1.5e-02
Waldenstrons macroglobulinemia 1.090 2.9e-02
X-linked cerebral adrenoleukodystrophy 1.100 4.4e-02

Protein-protein Interaction (9)

PDB (23)

Gene RIF (370)

AA Sequence

MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGDINQLQTSLGM      1 - 70
VQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMASQAQQSSPGLGLINSMVKSPMTQAGLTSPNMGMGT     71 - 140
SGPNQGPTQSTGMMNSPVNQPAMGMNTGMNAGMNPGMLAAGNGQGIMPNQVMNGSIGAGRGRQNMQYPNP    141 - 210
GMGSAGNLLTEPLQQGSPQMGGQTGLRGPQPLKMGMMNNPNPYGSPYTQNPGQQIGASGLGLQIQTKTVL    211 - 280
SNNLSPFAMDKKAVPGGGMPNMGQQPAPQVQQPGLVTPVAQGMGSGAHTADPEKRKLIQQQLVLLLHAHK    281 - 350
CQRREQANGEVRQCNLPHCRTMKNVLNHMTHCQSGKSCQVAHCASSRQIISHWKNCTRHDCPVCLPLKNA    351 - 420
GDKRNQQPILTGAPVGLGNPSSLGVGQQSAPNLSTVSQIDPSSIERAYAALGLPYQVNQMPTQPQVQAKN    421 - 490
QQNQQPGQSPQGMRPMSNMSASPMGVNGGVGVQTPSLLSDSMLHSAINSQNPMMSENASVPSLGPMPTAA    491 - 560
QPSTTGIRKQWHEDITQDLRNHLVHKLVQAIFPTPDPAALKDRRMENLVAYARKVEGDMYESANNRAEYY    561 - 630
HLLAEKIYKIQKELEEKRRTRLQKQNMLPNAAGMVPVSMNPGPNMGQPQPGMTSNGPLPDPSMIRGSVPN    631 - 700
QMMPRITPQSGLNQFGQMSMAQPPIVPRQTPPLQHHGQLAQPGALNPPMGYGPRMQQPSNQGQFLPQTQF    701 - 770
PSQGMNVTNIPLAPSSGQAPVSQAQMSSSSCPVNSPIMPPGSQGSHIHCPQLPQPALHQNSPSPVPSRTP    771 - 840
TPHHTPPSIGAQQPPATTIPAPVPTPPAMPPGPQSQALHPPPRQTPTPPTTQLPQQVQPSLPAAPSADQP    841 - 910
QQQPRSQQSTAASVPTPTAPLLPPQPATPLSQPAVSIEGQVSNPPSTSSTEVNSQAIAEKQPSQEVKMEA    911 - 980
KMEVDQPEPADTQPEDISESKVEDCKMESTETEERSTELKTEIKEEEDQPSTSATQSSPAPGQSKKKIFK    981 - 1050
PEELRQALMPTLEALYRQDPESLPFRQPVDPQLLGIPDYFDIVKSPMDLSTIKRKLDTGQYQEPWQYVDD   1051 - 1120
IWLMFNNAWLYNRKTSRVYKYCSKLSEVFEQEIDPVMQSLGYCCGRKLEFSPQTLCCYGKQLCTIPRDAT   1121 - 1190
YYSYQNRYHFCEKCFNEIQGESVSLGDDPSQPQTTINKEQFSKRKNDTLDPELFVECTECGRKMHQICVL   1191 - 1260
HHEIIWPAGFVCDGCLKKSARTRKENKFSAKRLPSTRLGTFLENRVNDFLRRQNHPESGEVTVRVVHASD   1261 - 1330
KTVEVKPGMKARFVDSGEMAESFPYRTKALFAFEEIDGVDLCFFGMHVQEYGSDCPPPNQRRVYISYLDS   1331 - 1400
VHFFRPKCLRTAVYHEILIGYLEYVKKLGYTTGHIWACPPSEGDDYIFHCHPPDQKIPKPKRLQEWYKKM   1401 - 1470
LDKAVSERIVHDYKDIFKQATEDRLTSAKELPYFEGDFWPNVLEESIKELEQEEEERKREENTSNESTDV   1471 - 1540
TKGDSKNAKKKNNKKTSKNKSSLSRGNKKKPGMPNVSNDLSQKLYATMEKHKEVFFVIRLIAGPAANSLP   1541 - 1610
PIVDPDPLIPCDLMDGRDAFLTLARDKHLEFSSLRRAQWSTMCMLVELHTQSQDRFVYTCNECKHHVETR   1611 - 1680
WHCTVCEDYDLCITCYNTKNHDHKMEKLGLGLDDESNNQQAAATQSPGDSRRLSIQRCIQSLVHACQCRN   1681 - 1750
ANCSLPSCQKMKRVVQHTKGCKRKTNGGCPICKQLIALCCYHAKHCQENKCPVPFCLNIKQKLRQQQLQH   1751 - 1820
RLQQAQMLRRRMASMQRTGVVGQQQGLPSPTPATPTTPTGQQPTTPQTPQPTSQPQPTPPNSMPPYLPRT   1821 - 1890
QAAGPVSQGKAAGQVTPPTPPQTAQPPLPGPPPAAVEMAMQIQRAAETQRQMAHVQIFQRPIQHQMPPMT   1891 - 1960
PMAPMGMNPPPMTRGPSGHLEPGMGPTGMQQQPPWSQGGLPQPQQLQSGMPRPAMMSVAQHGQPLNMAPQ   1961 - 2030
PGLGQVGISPLKPGTVSQQALQNLLRTLRSPSSPLQQQQVLSILHANPQLLAAFIKQRAAKYANSNPQPI   2031 - 2100
PGQPGMPQGQPGLQPPTMPGQQGVHSNPAMQNMNPMQAGVQRAGLPQQQPQQQLQPPMGGMSPQAQQMNM   2101 - 2170
NHNTMPSQFRDILRRQQMMQQQQQQGAGPGIGPGMANHNQFQQPQGVGYPPQQQQRMQHHMQQMQQGNMG   2171 - 2240
QIGQLPQALGAEAGASLQAYQQRLLQQQMGSPVQPNPMSPQQHMLPNQAQSPHLQGQQIPNSLSNQVRSP   2241 - 2310
QPVPSPRPQSQPPHSSPSPRMQPQPSPHHVSPQTSSPHPGLVAAQANPMEQGHFASPDQNSMLSQLASNP   2311 - 2380
GMANLHGASATDLGLSTDNSDLNSNLSQSTLDIH                                       2381 - 2414
//

Text Mined References (580)

PMID Year Title