Property Summary

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 775
Intellectual disability 998
Abnormal number of teeth 2
Abnormality of refraction 2
Acquired flat foot 70
Acquired scoliosis 274
Adenocarcinoma of lung (disorder) 59
Adenoid Cystic Carcinoma 90
Agenesis of corpus callosum 79
Agoraphobia 20
Alcoholic Intoxication, Chronic 283
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Atrial Septal Defects 81
Auricular malformation 41
Autistic Disorder 358
Bifid uterus 3
Bilateral fifth finger clinodactyly 109
Birthmark 35
Bladder Neoplasm 106
Blepharoptosis 229
Bowed and upward slanting eyebrows 39
Broad flat nasal bridge 232
Broad hallux 29
Broad thumbs 26
Bushy eyebrows 48
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Cataract 290
Cervical vertebral abnormalities 6
Chorioretinal dystrophy 4
Cognitive delay 596
Conduction disorder of the heart 79
Congenital Epicanthus 175
Congenital anomaly of the kidney 12
Congenital deafness 180
Congenital dislocation of radial head 14
Congenital ocular coloboma (disorder) 37
Constipation 174
Contracture 95
Contracture of joint 92
Convex nasal ridge 36
Corneal abnormalities 6
Cornela disease 6
Cryptorchidism 287
Curvature of little finger 109
Curvature of spine 275
Deafness 193
Decreased projection of maxilla 65
Deep overbite 4
Defective enamel matrix 34
Deficiency of upper jaw bones 65
Delayed bone age 132
Delayed speech and language development 110
Dens evaginatus 3
Dental Enamel Hypoplasia 42
Dental caries 157
Deviated nasal septum 2
Downward slant of palpebral fissure 158
Duane Retraction Syndrome 11
Dull intelligence 634
Dyschezia 129
Dysplasia of tooth enamel 34
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 100
Enophthalmos 74
Exophthalmos 110
Extra cusp on inside of front tooth 3
Facial grimacing 3
Failure to gain weight 359
Feeding difficulties in infancy 174
Flared iliac wings 12
Flatfoot 71
Flexion contracture 92
Flexion contractures of joints 92
Frontal bossing 154
Gait, Unsteady 29
Glaucoma 232
Global developmental delay 596
Globe retraction and deviation on adduction 3
Hair whorls 3
Hallucal duplication 3
Hearing Loss, Partial 180
Hereditary nonpolyposis colorectal carcinoma 18
High axial triradius 2
Highly variable severity 149
Hirschsprung Disease 29
Hirsutism 46
Hyperactive behavior 90
Hyperplasia of foramen magnum 6
Hyperplasia of nose 22
Hyperreflexia 208
Hypertrophy of nose 22
Hypoplasia of the maxilla 65
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 273
Hypotrophic maxilla 65
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 70
Joint laxity 52
Keloid 37
Kidney Diseases 110
Lacrimal Duct Obstruction 16
Language Delay 110
Large foramen magnum 6
Large nose 22
Laryngomalacia 13
Late fontanel closure 28
Legg-Calve-Perthes disease 14
Leiomyosarcoma of uterus 13
Lens Opacities 227
Limited eye motility from Duane anomaly 3
Long eyelashes 36
Low anterior hairline 30
Low hanging columella 4
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Malocclusion 57
Mammary Neoplasms 403
Mandibular hypoplasia 273
Maxillary retrognathia 65
Megacolon 27
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micrognathism 273
Microstomia 76
Mild Mental Retardation 68
Mirror movements disorder 8
Muscle hypotonia 562
Narrow palate 20
Nasal bridge wide 232
Obesity, Abdominal 23
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 86
Pectus excavatum 100
Pediatric failure to thrive 359
Penile hypospadias 102
Phonophobia 11
Plantar crease between first and second toes 2
Polydactyly 106
Polyhydramnios 106
Poor coordination 11
Poor school performance 634
Posterior lingual occlusion of mandibular teeth 4
Postnatal growth retardation 56
Premature development of the breasts 5
Prenatal onset 137
Prominent eyes 95
Prominent fingertip pads 6
Prominent globes 95
Protruding eyes 95
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 211
Respiratory distress 42
Retrognathia 53
Retrusion of upper jaw bones 65
Rotting teeth 69
Rounded columella 4
Seizures 584
Self Mutilation 14
Shawl scrotum 9
Short stature 514
Simple ear 41
Single transverse palmar crease 29
Sleep Apnea, Obstructive 10
Small cell carcinoma of lung 43
Small head 366
Speech Delay 110
Speech impairment 110
Spina bifida occulta 18
Squamous cell carcinoma 125
Squamous cell carcinoma of esophagus 72
Stereotyped Behavior 36
Stereotypic Movement Disorder 41
Stomach Neoplasms 287
Strabismus 265
Strawberry nevus of skin 10
Sunken eyes 62
Syndactyly 88
T-Cell Lymphoma 13
Talon cusp 3
Tethered Cord Syndrome 7
Thick, flared eyebrows 39
Thin dental enamel 34
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 149
Vascular ring 3
Ventricular Septal Defects 113
Wide anterior fontanel 44
hearing impairment 194
Disease Target Count Z-score Confidence
Crohn's disease 311 0.0 3.0
Disease Target Count Z-score Confidence
Prostate cancer 164 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)

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