Property Summary

NCBI Gene PubMed Count 62
PubMed Score 27.96
PubTator Score 66.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of pelvic girdle bone morphology 37
Absent auditory canals 23
Absent bone maturation in sternum 4
Absent external auditory canals 23
Absent glenoid fossa 1
Absent sternal ossification 4
Atresia of the external auditory canal 23
Atretic auditory canal 23
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Birth length less than 3rd percentile 6
Blepharophimosis 70
Breech Presentation 10
Byzanthine arch palate 194
Cleft Palate 271
Congenital Camptodactyly 40
Congenital clubfoot 109
Congenital deafness 185
Congenital hemivertebra 25
Congenital hypoplasia of breast 25
Congenital hypoplasia of penis 176
Congenital pectus carinatum 52
Congenital small ears 48
Contracture of joint of hand 30
Cryptorchidism 296
Curvature of little finger 110
Cutaneous finger syndactyly 11
Deafness 198
Decreased projection of maxilla 66
Decreased size of teeth 62
Decreased width of tooth 59
Deficiency of upper jaw bones 66
Delayed bone age 136
Dull intelligence 645
EAR, PATELLA, SHORT STATURE SYNDROME 7
Failure to gain weight 365
Feeding difficulties in infancy 175
Flat glenoid fossa 2
Frontal bossing 157
Full lower lip 64
Gastroesophageal reflux disease 110
Genu varum 29
Hearing Loss, Partial 185
Heartburn 78
Hooked clavicle 5
Hypertrophy of clitoris 40
Hypoplasia of the maxilla 66
Hypoplastic labia minora 10
Hypoplastic mandible condyle 275
Hypotrophic maxilla 66
Incomplete partition of the cochlea type II 3
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint laxity 54
Knee joint valgus deformity 56
Long eyelashes 37
Low Birth Weights 69
Low intelligence 645
Low set ears 181
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Microstomia 78
Mondini malformation 3
Overcurvature of nail 6
Patella aplasia-hypoplasia 12
Pediatric failure to thrive 365
Poor school performance 645
Prominent lower lip 64
Respiratory distress 43
Retrusion of upper jaw bones 66
Shawl scrotum 9
Short hands 50
Short palpebral fissure 38
Short ribs 30
Slender, gracile long tubular bones 21
Small anterior fontanelle 3
Small for gestational age (disorder) 69
Small hand 36
Small head 374
Small labia majora 16
Strabismus 270
Thin rib 21
Thin skin 47
Uranostaphyloschisis 167
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
substance-related disorder 162 0.0 1.5
Disease Target Count
Meier-Gorlin syndrome 1 1

Expression

  Differential Expression (10)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 1.7e-04
glioblastoma 1.200 5.2e-05
group 3 medulloblastoma 2.000 9.2e-07
malignant mesothelioma 2.300 1.4e-07
medulloblastoma, large-cell 2.000 5.1e-06
non-small cell lung cancer 1.077 5.3e-14
osteosarcoma -2.205 3.1e-05
pediatric high grade glioma 1.300 6.9e-06
primitive neuroectodermal tumor 1.400 1.6e-03
psoriasis 1.400 3.2e-67

Gene RIF (24)

AA Sequence

MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDDENPYVAKLLE      1 - 70
LFEDDSDPPPKKRARVQWFVRFCEVPACKRHLLGRKPGAQEIFWYDYPACDSNINAETIIGLVRVIPLAP     71 - 140
KDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQESAAKCQKPVRAKSKSAESPSWTPAEHVAK    141 - 210
RIESRHSASKSRQTPTHPLTPRARKRLELGNLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQP    211 - 280
DKLQTLSPALKAPEKTRETGLSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPS    281 - 350
VILKPENIKKRDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGNSKSDQEEKEILPAAEISDSS    351 - 420
SDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLAAQEPASVLEE    421 - 490
ARLRLHVSAVPESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGKTATVHEVIRCLQQAAQANDV    491 - 560
PPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAELLAKQFCTRGSPQETTVLLVDELDLLWTHKQ    561 - 630
DIMYNLFDWPTHKEARLVVLAIANTMDLPERIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAF    631 - 700
EDDAIQLVARKVAALSGDARRCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNS    701 - 770
SVLEQSFLRAILAEFRRSGLEEATFQQIYSQHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRND    771 - 840
LLLRVRLNVSQDDVLYALKDE                                                     841 - 861
//

Text Mined References (69)

PMID Year Title