Property Summary

NCBI Gene PubMed Count 38
PubMed Score 298.92
PubTator Score 551.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Cutis Laxa 39
Abnormal isoelectric focusing of serum transferrin 3
Acquired flat foot 72
Acquired scoliosis 281
Anteverted nostril 191
Atrial septal aneurysm 2
Autosomal recessive predisposition 1442
Brachyonychia 6
Broad flat nasal bridge 236
Byzanthine arch palate 194
Coarse hair 31
Congenital Epicanthus 177
Congenital clubfoot 109
Cryptorchidism 296
Curvature of spine 282
Dandy-Walker Syndrome 39
Decreased projection of midface 105
Decreased size of teeth 62
Decreased width of tooth 59
Deep palmar crease 8
Deep plantar creases 5
Delayed speech and language development 112
Dental caries 164
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fetal Membranes, Premature Rupture 5
Flat face 52
Flatfoot 73
Fragile nails 16
Frontal bossing 157
Furrowed palms and soles 4
Generalized elastolysis 24
Generalized osteopenia 99
Hanging skin 24
Hernia, Inguinal 89
Hip Dislocation, Congenital 48
Hip joint varus deformity - observation 24
Hyperkyphosis 111
Hypernasal voice 39
Hypoplasia of muscle 5
Hypotrophic malar bone 129
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Kyphosis deformity of spine 114
Language Delay 112
Late fontanel closure 28
Late tooth eruption 61
Lipodystrophy 40
Long philtrum 137
Low intelligence 645
Low set ears 181
Malar flattening 129
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Microstomia 78
Midface retrusion 105
Motor delay 147
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Nasal voice 39
Neonatal wrinkled skin of hands and feet 1
No development of motor milestones 147
Orbital separation excessive 244
Osteopenia 99
Pachygyria 41
Pectus excavatum 100
Pediatric failure to thrive 365
Polymicrogyria 48
Poor school performance 645
Progressive microcephaly 32
Range of joint movement increased 32
Redundant skin 28
Rotting teeth 73
Rough hair texture 31
Scapular weakness 23
Seizures 596
Short nose 132
Short stature 531
Slender, gracile long tubular bones 21
Small head 374
Small midface 105
Small nose 132
Smooth philtrum 43
Sparse hair 59
Speech Delay 112
Speech impairment 112
Strabismus 270
Structure of wormian bone 24
Thin, sparse hair 59
Umbilical hernia 93
Wide anterior fontanel 44
Winged scapula 23
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Osteopetrosis 43 5.564 2.8

Expression

  Differential Expression (12)

Disease log2 FC p
Astrocytoma, Pilocytic 1.200 4.6e-08
atypical teratoid / rhabdoid tumor 1.600 3.6e-07
ependymoma 1.100 7.1e-09
glioblastoma 1.500 5.0e-09
group 3 medulloblastoma 1.200 3.5e-04
medulloblastoma, large-cell 1.600 4.1e-06
non-small cell lung cancer -1.288 2.2e-21
osteosarcoma -1.228 9.6e-06
pediatric high grade glioma 1.500 9.8e-09
primitive neuroectodermal tumor 1.200 9.0e-05
psoriasis 1.300 4.3e-03
tuberculosis and treatment for 6 months 1.100 9.2e-04

 GWAS Trait (1)

Gene RIF (20)

AA Sequence

MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQ      1 - 70
EINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVK     71 - 140
RNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDES    141 - 210
LEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKT    211 - 280
EDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESG    281 - 350
ATIPSFMNIIPTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV    351 - 420
MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYS    421 - 490
SSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLATNRLTFLNSFKMKMSVILGI    491 - 560
IHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGYLIFMIFYKWLVFSAETSRVAPSILIEFINM    561 - 630
FLFPASKTSGLYTGQEYVQRVLLVVTALSVPVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVS    631 - 700
LLGSQDIEEGNHQVEDGCREMACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVL    701 - 770
WAMLMRVGLRVDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPF    771 - 840
SFSLLSSKFNNDDSVA                                                          841 - 856
//

Text Mined References (43)

PMID Year Title