Property Summary

NCBI Gene PubMed Count 67
PubMed Score 115.16
PubTator Score 174.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
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
Bushy eyebrows 49
Byzanthine arch palate 194
Cellulitis of eyelid 17
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital hypoplasia of penis 176
Convex nasal bridge 57
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
Dull intelligence 645
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
Hirsutism 47
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
Limited elbow movement 6
Long eyelashes 37
Long philtrum 137
Low anterior hairline 30
Low intelligence 645
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Micromelia 58
Multicystic Dysplastic Kidney 52
Muscle Hypertonia 88
Myeloid Leukemia 19
Myopia 176
Obsessive compulsive behavior 25
Pediatric failure to thrive 365
Penile hypospadias 106
Phthisis bulbi 5
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Prominent nasal bridge 57
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
Speech Disorders 58
Syndactyly of the toes 45
Synophrys 40
Thick, flared eyebrows 41
Thin lips 49
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 0.9

Expression

  Differential Expression (14)

Disease log2 FC p
adrenocortical carcinoma 1.365 8.9e-03
atypical teratoid/rhabdoid tumor 1.500 1.4e-03
group 3 medulloblastoma 2.500 8.1e-04
lung cancer 2.000 4.7e-03
malignant mesothelioma 1.400 5.6e-07
non-small cell lung cancer 1.026 1.8e-09
osteosarcoma -1.961 2.9e-04
ovarian cancer 3.200 7.6e-06
pediatric high grade glioma 1.100 2.3e-02
periodontitis -1.100 1.2e-22
primitive neuroectodermal tumor 1.600 4.4e-03
progressive supranuclear palsy -1.500 4.8e-03
psoriasis 1.200 7.9e-06
Rheumatoid arthritis 2.600 2.8e-03

Gene RIF (29)

AA Sequence

MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTG      1 - 70
PRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVK     71 - 140
QGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEEL    141 - 210
AQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTK    211 - 280
ISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPK    281 - 350
FNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDL    351 - 420
EDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDL    421 - 490
EKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNFECEPAFYTCVEVTAGNRLFY    491 - 560
HIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAYPETNDAIPMISKLRYNPRFDKAFKHVFGKT    561 - 630
LICRSMEVSTQLARAFTMDCITLEGDQVSHRGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENL    631 - 700
RRNIERINNEIDQLMNQMQQIETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAM    701 - 770
ESTRESLKAELGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRL    771 - 840
DQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKSMERWKNMEKE    841 - 910
HMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTLSLKQLFRKLEQCNTELKKYS    911 - 980
HVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNVLELRKYEAIQLTFKQVSKNFSEVFQKLVPG    981 - 1050
GKATLVMKKGDVEGSQSQDEGEGSGESERGSGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQK   1051 - 1120
SLVALALIFAIQKCDPAPFYLFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVK   1121 - 1190
FRNKVSHIDVITAEMAKDFVEDDTTHG                                              1191 - 1217
//

Text Mined References (77)

PMID Year Title