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 472 0.0 0.0
Stomach Neoplasms 287 0.0 0.0
Disease Target Count
ANONYCHIA 20
Abnormality of the palate 17
Absent axillary hair 5
Absent facial hair 2
Acquired scoliosis 274
Anemia 353
Asymmetry of the posterior cranium 19
Big calvaria 147
Bilateral Cryptorchidism 2
Blepharoptosis 229
Bone Cysts 11
Brachycephaly 86
Broad cranium shape 86
Broad forehead 58
Cataract 290
Conductive hearing loss 122
Congenital deafness 180
Congenital pes cavus 86
Curvature of spine 275
Deafness 193
Decreased projection of maxilla 65
Decreased projection of midface 104
Deficiency of upper jaw bones 65
Developmental regression 94
Distal amyotrophy 49
Downward slant of palpebral fissure 158
Dull intelligence 634
Enophthalmos 74
Epilepsy 775
Flattening of cranial vault 19
Flattening of head 19
Flexion contracture of hip 9
Full lower lip 61
Gait abnormality 129
Generalized osteoporosis with pathologic fractures 5
Gynecomastia 61
Hearing Loss, Partial 180
Hemoglobin low 123
Hydrocephalus 148
Hyperkyphosis 109
Hypogonadism 169
Hypoplasia of corpus callosum 85
Hypoplasia of the maxilla 65
Hypotrophic malar bone 129
Hypotrophic maxilla 65
Hypotrophic midface 104
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 998
Irregular vertebral endplates 16
Isolated cases 70
Knee joint valgus deformity 54
Kyphosis deformity of spine 112
Large auricle 85
Large dysplastic ears 85
Large pinnae 85
Large prominent ears 85
Large protruding ears 85
Large, floppy ears 85
Lens Opacities 227
Loss of developmental milestones 94
Low intelligence 634
Lytic lesion 32
Macrotia 85
Malar flattening 129
Maxillary retrognathia 65
Mental Retardation 634
Mental deficiency 634
Mental deterioration in childhood 94
Metatarsus Varus 24
Midface retrusion 104
Muscle hypotonia 562
Myopathy 185
Narrow iliac wings 7
Narrow thorax 53
Nerve Degeneration 118
Neuro-degenerative disease 43
Neurodegenerative Disorders 78
Neurodevelopmental regression 94
Obesity, Abdominal 23
Ossification of pinnae 2
Osteoporosis 348
Pectus excavatum 100
Plagiocephaly 19
Plagiocephaly, Nonsynostotic 19
Platybasia 13
Poor school performance 634
Posterior polar cataract 6
Posterior scalloping of vertebral bodies 3
Prominent lower lip 61
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Retrusion of upper jaw bones 65
Rhomboid shaped head 19
Seizures 584
Short distal phalanges 49
Short stature 514
Small midface 104
Sunken eyes 62
Superiorly displaced ears 1
Synophrys 39
Toeing-in 24
Wide skull shape 86
hearing impairment 194
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.9
Disease Target Count Z-score Confidence
Stomach cancer 30 0.0 3.0
Type 2 diabetes mellitus 268 0.0 1.7
Disease Target Count Z-score Confidence
Multiple Sclerosis 527 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