Property Summary

NCBI Gene PubMed Count 47
PubMed Score 28.70
PubTator Score 23.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Acrofacial dysostosis, Nager type 1 0.0 0.0
Disease Target Count
Radioulnar synostosis 35
Abnormal nasal morphology 16
Abnormal skeletal development 60
Absence of eyebrows 31
Absence of radius and ulna 15
Absence of toe 4
Absent auditory canals 23
Absent external auditory canals 23
Absent radius 15
Acquired scoliosis 281
Aplasia/Hypoplasia of the eyebrow 31
Aqueductal Stenosis 5
Atresia of the external auditory canal 23
Atretic auditory canal 23
Bicornuate uterus 11
Blepharoptosis 231
Broad hallux 29
Bunion 26
Cervical vertebral abnormalities 6
Cleft Lip 141
Cleft Palate 271
Conductive hearing loss 123
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital deafness 185
Congenital hypoplasia of epiglottis 4
Congenital hypoplasia of radius 23
Congenital small ears 48
Convex nasal bridge 57
Curvature of digit 57
Curvature of spine 282
Deafness 198
Decrease in jaw opening 5
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Depressed cheekbone 22
Downward slant of palpebral fissure 158
Flattening of the zygomatic bone 22
Gastroschisis 11
Hallux Valgus 26
Hearing Loss, Partial 185
Highly variable severity 157
Hirschsprung Disease 31
Hydrocephalus 152
Hypoplasia of first ribs 3
Hypoplasia of the maxilla 66
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypotrophic cheekbone 22
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Joint stiffness 84
Language Delay 112
Laryngeal hypoplasia 2
Limited elbow extension 19
Limited jaw mobility 5
Limited jaw opening 5
Low set ears 181
Lower eyelid coloboma 3
Macrostomia 72
Malar flattening 129
Mandibular hypoplasia 275
Maxillary retrognathia 66
Megacolon 29
Micrognathism 275
Midface retrusion 105
Osteochondrodysplasias 72
Overriding toe 10
Partial absence of lower eyelashes 2
Polymicrogyria 48
Posteriorly rotated ear 61
Preauricular skin tag 19
Premature Birth 77
Premature birth of newborn 67
Prominent nasal bridge 57
Radial aplasia 15
Radial ray hypoplasia 23
Radially deviated fingers 38
Respiratory Insufficiency 132
Respiratory function loss 121
Retrognathia 54
Retrusion of upper jaw bones 66
Short stature 531
Skin tag on the posterior cheek 19
Small cheekbone 22
Small head 374
Small midface 105
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Speech Delay 112
Speech impairment 112
Syndactyly of the toes 45
Tetralogy of Fallot 67
Thumb absent or hypoplastic 9
Thumb aplasia 16
Triphalangeal thumb 9
Trismus 6
Unilateral agenesis of kidney 20
Uranostaphyloschisis 167
Urticaria 67
Variable expressivity 157
Velopharyngeal Insufficiency 8
Velopharyngeal dysfunction 8
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Nager acrofacial dysostosis 21 6.816 3.4
Disease Target Count
Nager syndrome 1

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytoma 1.900 1.6e-04
atypical teratoid / rhabdoid tumor 1.100 1.0e-05
ependymoma 1.300 8.3e-03
glioblastoma 1.100 1.6e-02
intraductal papillary-mucinous neoplasm ... 1.200 1.6e-03
malignant mesothelioma 1.200 2.8e-05
medulloblastoma, large-cell 1.300 9.7e-06
oligodendroglioma 1.300 6.9e-03
ovarian cancer 2.000 1.4e-05
pancreatic ductal adenocarcinoma liver m... 1.530 1.3e-02
pediatric high grade glioma 1.100 3.3e-07

 GO Function (1)

Gene RIF (19)

AA Sequence

MAAGPISERNQDATVYVGGLDEKVSEPLLWELFLQAGPVVNTHMPKDRVTGQHQGYGFVEFLSEEDADYA      1 - 70
IKIMNMIKLYGKPIRVNKASAHNKNLDVGANIFIGNLDPEIDEKLLYDTFSAFGVILQTPKIMRDPDTGN     71 - 140
SKGYAFINFASFDASDAAIEAMNGQYLCNRPITVSYAFKKDSKGERHGSAAERLLAAQNPLSQADRPHQL    141 - 210
FADAPPPPSAPNPVVSSLGSGLPPPGMPPPGSFPPPVPPPGALPPGIPPAMPPPPMPPGAAGHGPPSAGT    211 - 280
PGAGHPGHGHSHPHPFPPGGMPHPGMSQMQLAHHGPHGLGHPHAGPPGSGGQPPPRPPPGMPHPGPPPMG    281 - 350
MPPRGPPFGSPMGHPGPMPPHGMRGPPPLMPPHGYTGPPRPPPYGYQRGPLPPPRPTPRPPVPPRGPLRG    351 - 420
PLPQ                                                                      421 - 424
//

Text Mined References (55)

PMID Year Title