Property Summary

NCBI Gene PubMed Count 30
PubMed Score 133.11
PubTator Score 23.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Primrose syndrome 1 0.0 0.0
Prostatic Neoplasms 495 0.0 0.0
Stomach Neoplasms 300 0.0 0.0
Disease Target Count
ANONYCHIA 20
Abnormality of the palate 17
Absent axillary hair 5
Absent facial hair 2
Acquired scoliosis 281
Anemia 365
Asymmetry of the posterior cranium 20
Big calvaria 147
Bilateral Cryptorchidism 3
Blepharoptosis 231
Bone Cysts 12
Brachycephaly 88
Broad cranium shape 88
Broad forehead 59
Cataract 297
Conductive hearing loss 123
Congenital deafness 185
Congenital pes cavus 88
Curvature of spine 282
Deafness 198
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Developmental regression 95
Distal amyotrophy 51
Downward slant of palpebral fissure 158
Dull intelligence 645
Enophthalmos 75
Epilepsy 792
Flattening of cranial vault 20
Flattening of head 20
Flexion contracture of hip 10
Full lower lip 64
Gait abnormality 135
Generalized osteoporosis with pathologic fractures 6
Gynecomastia 64
Hearing Loss, Partial 185
Hemoglobin low 124
Hydrocephalus 152
Hyperkyphosis 111
Hypogonadism 173
Hypoplasia of corpus callosum 90
Hypoplasia of the maxilla 66
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Irregular vertebral endplates 16
Isolated cases 72
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Loss of developmental milestones 95
Low intelligence 645
Lytic lesion 32
Macrotia 87
Malar flattening 129
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Metatarsus Varus 24
Midface retrusion 105
Muscle hypotonia 571
Myopathy 185
Narrow iliac wings 7
Narrow thorax 53
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
Neurodevelopmental regression 95
Obesity, Abdominal 24
Ossification of pinnae 2
Osteoporosis 363
Pectus excavatum 100
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Platybasia 13
Poor school performance 645
Posterior polar cataract 6
Posterior scalloping of vertebral bodies 3
Prominent lower lip 64
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Retrusion of upper jaw bones 66
Rhomboid shaped head 20
Seizures 596
Short distal phalanges 50
Short stature 531
Small midface 105
Sunken eyes 63
Superiorly displaced ears 1
Synophrys 40
Toeing-in 24
Wide skull shape 88
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Stomach cancer 30 0.0 3.0
Type 2 diabetes mellitus 272 0.0 1.7
Disease Target Count Z-score Confidence
Multiple Sclerosis 540 3.16 1.6

Expression

  Differential Expression (25)

Disease log2 FC p
acute quadriplegic myopathy 1.054 2.7e-03
adult high grade glioma 1.300 1.4e-03
Amyotrophic lateral sclerosis 1.194 4.1e-05
astrocytic glioma 2.600 1.1e-03
Astrocytoma, Pilocytic 1.200 9.0e-05
autosomal dominant Emery-Dreifuss muscul... 1.089 3.6e-02
Breast cancer -1.500 6.9e-09
breast carcinoma -1.500 1.0e-28
ependymoma 1.900 2.3e-02
Gaucher disease type 1 -1.300 2.0e-02
glioblastoma 1.500 1.8e-05
group 4 medulloblastoma 1.500 1.1e-03
intraductal papillary-mucinous adenoma (... 1.100 1.8e-03
invasive ductal carcinoma -1.800 6.3e-04
juvenile dermatomyositis 1.427 2.6e-07
lung cancer -2.100 4.7e-04
medulloblastoma, large-cell -1.100 4.8e-02
non-small cell lung cancer -1.069 3.7e-10
oligodendroglioma 2.600 7.9e-04
osteosarcoma -1.538 9.3e-03
ovarian cancer -2.600 7.0e-09
permanent atrial fibrillation -1.100 3.3e-03
Pick disease 1.500 3.5e-06
psoriasis -1.900 1.3e-04
tuberculosis and treatment for 3 months 1.100 6.5e-05

 OMIM Phenotype (1)

Gene RIF (17)

AA Sequence

MLERKKPKTAENQKASEENEITQPGGSSAKPGLPCLNFEAVLSPDPALIHSTHSLTNSHAHTGSSDCDIS      1 - 70
CKGMTERIHSINLHNFSNSVLETLNEQRNRGHFCDVTVRIHGSMLRAHRCVLAAGSPFFQDKLLLGYSDI     71 - 140
EIPSVVSVQSVQKLIDFMYSGVLRVSQSEALQILTAASILQIKTVIDECTRIVSQNVGDVFPGIQDSGQD    141 - 210
TPRGTPESGTSGQSSDTESGYLQSHPQHSVDRIYSALYACSMQNGSGERSFYSGAVVSHHETALGLPRDH    211 - 280
HMEDPSWITRIHERSQQMERYLSTTPETTHCRKQPRPVRIQTLVGNIHIKQEMEDDYDYYGQQRVQILER    281 - 350
NESEECTEDTDQAEGTESEPKGESFDSGVSSSIGTEPDSVEQQFGPGAARDSQAEPTQPEQAAEAPAEGG    351 - 420
PQTNQLETGASSPERSNEVEMDSTVITVSNSSDKSVLQQPSVNTSIGQPLPSTQLYLRQTETLTSNLRMP    421 - 490
LTLTSNTQVIGTAGNTYLPALFTTQPAGSGPKPFLFSLPQPLAGQQTQFVTVSQPGLSTFTAQLPAPQPL    491 - 560
ASSAGHSTASGQGEKKPYECTLCNKTFTAKQNYVKHMFVHTGEKPHQCSICWRSFSLKDYLIKHMVTHTG    561 - 630
VRAYQCSICNKRFTQKSSLNVHMRLHRGEKSYECYICKKKFSHKTLLERHVALHSASNGTPPAGTPPGAR    631 - 700
AGPPGVVACTEGTTYVCSVCPAKFDQIEQFNDHMRMHVSDG                                 701 - 741
//

Text Mined References (40)

PMID Year Title