Property Summary

NCBI Gene PubMed Count 85
PubMed Score 173.41
PubTator Score 184.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Cornelia de Lange syndrome 21
Abnormally low-pitched voice 6
Absent auditory canals 23
Absent external auditory canals 23
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Atresia of the external auditory canal 23
Atretic auditory canal 23
Attention deficit hyperactivity disorder 278
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Blepharitis 23
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Bushy eyebrows 49
Byzanthine arch palate 194
CORNELIA DE LANGE SYNDROME 4 1
Cellulitis of eyelid 17
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital hypoplasia of penis 176
Corneal diameter decreased 47
Cryptorchidism 296
Curly eyelashes 6
Curvature of little finger 110
Cutis marmorata 32
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downturned corners of mouth 48
Exostoses 11
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Gastroesophageal reflux disease 110
Generalized hirsutism 36
Global developmental delay 608
Heartburn 78
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypoplasia of nipple 16
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint stiffness 84
Late tooth eruption 61
Long eyelashes 37
Long philtrum 137
Low anterior hairline 30
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Mental and motor retardation 608
Microcornea 47
Micrognathism 275
Micromelia 58
Multicystic Dysplastic Kidney 52
Muscle Hypertonia 88
Myeloid Leukemia 19
Myopia 176
Nasal bridge wide 236
Obsessive compulsive behavior 25
Pediatric failure to thrive 365
Penile hypospadias 106
Phenotypic variability 150
Phthisis bulbi 5
Premature Birth 77
Premature birth of newborn 67
Proximally placed thumbs 17
Radioulnar synostosis 35
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Severe postnatal growth retardation 16
Short first metacarpals 11
Short neck 140
Short nose 132
Short stature 531
Sleep disturbances 37
Small hand 36
Small head 374
Small labia majora 16
Small nose 132
Smooth philtrum 43
Speech Disorders 58
Syndactyly of the toes 45
Synophrys 40
Thick, flared eyebrows 41
Thin lips 49
Thin upper lip vermilion 67
Vesico-Ureteral Reflux 33
Wide skull shape 88
Widely spaced teeth 31
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Trichorhinophalangeal syndrome type II 15 4.652 2.3
Disease Target Count Z-score Confidence
Intellectual disability 1016 3.674 1.8
Disease Target Count Z-score Confidence
Roberts syndrome 15 4.365 2.2
KBG syndrome 9 3.733 1.9
Cancer 2499 3.412 1.7

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytic glioma 1.200 4.3e-02
atypical teratoid / rhabdoid tumor 1.400 2.4e-05
Breast cancer 2.500 2.7e-02
ependymoma 1.100 7.5e-03
glioblastoma 1.200 8.2e-03
group 4 medulloblastoma 1.200 1.1e-02
invasive ductal carcinoma 1.700 2.8e-02
lung adenocarcinoma 1.460 5.6e-04
lung cancer 1.500 9.4e-04
malignant mesothelioma 1.400 1.3e-05
medulloblastoma, large-cell 1.700 2.7e-06
Multiple myeloma 1.404 3.6e-03
oligodendroglioma 1.300 1.3e-03
osteosarcoma 2.742 6.0e-06
primitive neuroectodermal tumor 1.300 2.6e-06
Rheumatoid arthritis 1.900 1.1e-02

Protein-protein Interaction (10)

Gene RIF (40)

AA Sequence

MFYAHFVLSKRGPLAKIWLAAHWDKKLTKAHVFECNLESSVESIISPKVKMALRTSGHLLLGVVRIYHRK      1 - 70
AKYLLADCNEAFIKIKMAFRPGVVDLPEENREAAYNAITLPEEFHDFDQPLPDLDDIDVAQQFSLNQSRV     71 - 140
EEITMREEVGNISILQENDFGDFGMDDREIMREGSAFEDDDMLVSTTTSNLLLESEQSTSNLNEKINHLE    141 - 210
YEDQYKDDNFGEGNDGGILDDKLISNNDGGIFDDPPALSEAGVMLPEQPAHDDMDEDDNVSMGGPDSPDS    211 - 280
VDPVEPMPTMTDQTTLVPNEEEAFALEPIDITVKETKAKRKRKLIVDSVKELDSKTIRAQLSDYSDIVTT    281 - 350
LDLAPPTKKLMMWKETGGVEKLFSLPAQPLWNNRLLKLFTRCLTPLVPEDLRKRRKGGEADNLDEFLKEF    351 - 420
ENPEVPREDQQQQHQQRDVIDEPIIEEPSRLQESVMEASRTNIDESAMPPPPPQGVKRKAGQIDPEPVMP    421 - 490
PQQVEQMEIPPVELPPEEPPNICQLIPELELLPEKEKEKEKEKEDDEEEEDEDASGGDQDQEERRWNKRT    491 - 560
QQMLHGLQRALAKTGAESISLLELCRNTNRKQAAAKFYSFLVLKKQQAIELTQEEPYSDIIATPGPRFHI    561 - 630
I//

Text Mined References (90)

PMID Year Title