Property Summary

NCBI Gene PubMed Count 44
PubMed Score 38.57
PubTator Score 22.89

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE 1 0.0 0.0
Disease Target Count
Choanal Atresia 42
Cleft Palate 271
Abnormality of the antihelix 10
Absent auditory canals 23
Absent external auditory canals 23
Absent tragus 1
Accessory oral frenulum 3
Anteverted nostril 191
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital small ears 48
Decreased projection of maxilla 66
Decreased projection of midface 105
Deep philtrum 21
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Depressed philtrum 21
Downward slant of palpebral fissure 158
Dull intelligence 645
Feeding difficulties 127
Feeding difficulties in infancy 175
Fleshy earlobes 8
Global developmental delay 608
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypoplastic tragus 2
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Intellectual disability 1016
Language Delay 112
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Mandibulofacial Dysostosis 5
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Middle ear malformations 5
Midface retrusion 105
Overfolded helix 24
Polydactyly preaxial type 1 9
Poor school performance 645
Postnatal microcephaly 24
Preauricular skin tag 19
Progressive microcephaly 32
Respiratory distress 43
Retrusion of upper jaw bones 66
Short nose 132
Short stature 531
Skin tag on the posterior cheek 19
Slender fingers 5
Small head 374
Small midface 105
Small nose 132
Speech Delay 112
Speech impairment 112
Telecanthus 62
Triangular head shape 10
Trigonocephaly 10
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Wedge shaped head 10
Disease Target Count P-value
ovarian cancer 8520 1.9e-05
diabetes mellitus 1728 1.3e-03
medulloblastoma, large-cell 6241 1.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.7

Expression

  Differential Expression (3)

Disease log2 FC p
diabetes mellitus -1.300 1.3e-03
medulloblastoma, large-cell 1.100 1.6e-03
ovarian cancer 1.500 1.9e-05

Gene RIF (13)

AA Sequence

MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLHEDKKYYPTAE      1 - 70
EVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHH     71 - 140
GKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLFNIMDTPGHVN    141 - 210
FSDEVTAGLRISDGVVLFIDAAEGVMLNTERLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRH    211 - 280
IVDEVNGLISMYSTDENLILSPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFN    281 - 350
PKTRKFTKKAPTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVC    351 - 420
KKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQF    421 - 490
HAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIEVNRVPAGNWVLIEGVDQPIV    491 - 560
KTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSELPKMLDGLRKVNKSYPSLTTKVEESGEHVIL    561 - 630
GTGELYLDCVMHDLRKMYSEIDIKVADPVVTFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDI    631 - 700
ENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGF    701 - 770
QWGTREGPLCDELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPA    771 - 840
DCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSVFHHWQIVPGD    841 - 910
PLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLELAKQDVVLNYPM            911 - 972
//

Text Mined References (57)

PMID Year Title