Property Summary

NCBI Gene PubMed Count 99
PubMed Score 64.67
PubTator Score 112.66

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
Adenoid Cystic Carcinoma 99
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
Bladder Neoplasm 112
Blepharitis 23
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Brachycephaly 88
Brachydactyly 156
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 clinodactyly 57
Congenital hypoplasia of penis 176
Congenital muscular hypertrophy-cerebral syndrome 1
Convex nasal bridge 57
Corneal diameter decreased 47
Cryptorchidism 296
Curly eyelashes 6
Curvature of digit 57
Curvature of little finger 110
Cutis marmorata 32
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
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
Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
Heartburn 78
Hirsutism 47
Hypoplasia of nipple 16
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Impaired cognition 96
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
Mental impairment 95
Microcornea 47
Micrognathism 275
Micromelia 58
Multicystic Dysplastic Kidney 52
Muscle Hypertonia 88
Myeloid Leukemia 19
Myopia 176
Narrow forehead 34
Obsessive compulsive behavior 25
Pediatric failure to thrive 365
Penile hypospadias 106
Phthisis bulbi 5
Poor school performance 645
Poor speech 37
Premature Birth 77
Premature birth of newborn 67
Problems speaking 37
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
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
X- linked recessive 110
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Endometrial cancer 311 0.0 0.5
Kidney cancer 2613 0.0 0.8
Disease Target Count Z-score Confidence
SC phocomelia syndrome 4 4.099 2.0
KBG syndrome 9 3.871 1.9

Expression

  Differential Expression (24)

Disease log2 FC p
acute quadriplegic myopathy 2.489 1.8e-08
adult high grade glioma 1.200 5.0e-03
aldosterone-producing adenoma -1.020 1.6e-02
astrocytoma 1.300 1.5e-21
Astrocytoma, Pilocytic 1.400 9.1e-09
atypical teratoid / rhabdoid tumor 1.300 2.2e-05
Breast cancer 2.800 2.4e-02
dermatomyositis 1.800 9.7e-04
Down syndrome 1.500 5.9e-04
ependymoma 1.600 7.3e-12
glioblastoma 1.600 2.0e-09
group 3 medulloblastoma 2.100 5.4e-04
intraductal papillary-mucinous adenoma (... 1.100 1.0e-03
intraductal papillary-mucinous carcinoma... 1.100 8.5e-03
juvenile dermatomyositis 1.572 1.5e-11
lung adenocarcinoma 1.046 6.0e-04
medulloblastoma, large-cell 2.100 3.1e-06
nasopharyngeal carcinoma 1.100 1.3e-05
oligodendroglioma 1.700 3.6e-02
osteosarcoma -1.546 3.1e-05
ovarian cancer -1.500 4.3e-04
primitive neuroectodermal tumor 1.700 8.2e-05
psoriasis 1.200 1.2e-03
Waldenstrons macroglobulinemia 1.685 2.6e-02

Gene RIF (54)

AA Sequence

MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPV      1 - 70
GKPAANRAFVSMVYSEEGAEDRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAV     71 - 140
ESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEEDTQFNYHRKKNIAAERKEAKQEKEEADRYQ    141 - 210
RLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKELGKMMREQQQI    211 - 280
EKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEF    281 - 350
EERMEEESQSQGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAK    351 - 420
IKQKLREIEENQKRIEKLEEYITTSKQSLEEQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARID    421 - 490
RQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGKNMDAIIVDSEKTGRDCIQYI    491 - 560
KEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAF    561 - 630
GGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQ    631 - 700
VQSQAHGLQMRLKYSQSDLEQTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMN    701 - 770
QVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEFENQKTRLGIQLDFEKNQLKEDQDKVHMWEQ    771 - 840
TVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGGANKEMTHLQK    841 - 910
EVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIE    911 - 980
IDYGDLCEDLKDAQAEEEIKQEMNTLQQKLNEQQSVLQRIAAPNMKAMEKLESVRDKFQETSDEFEAARK    981 - 1050
RAKKAKQAFEQIKKERFDRFNACFESVATNIDEIYKALSRNSSAQAFLGPENPEEPYLDGINYNCVAPGK   1051 - 1120
RFRPMDNLSGGEKTVAALALLFAIHSYKPAPFFVLDEIDAALDNTNIGKVANYIKEQSTCNFQAIVISLK   1121 - 1190
EEFYTKAESLIGVYPEQGDCVISKVLTFDLTKYPDANPNPNEQ                              1191 - 1233
//

Text Mined References (107)

PMID Year Title