Property Summary

NCBI Gene PubMed Count 32
PubMed Score 36.96
PubTator Score 18.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal skeletal development 60
Abnormality of bone mineral density 5
Absent eyelashes 16
Agenesis of teeth 21
Aplasia of eyelashes 16
Autosomal recessive predisposition 1442
Broad flat nasal bridge 236
CNS hypomyelination 17
Cerebellar Ataxia 304
Cleft Palate 271
Cognitive delay 608
Coloboma of eyelid 15
Coloboma of iris 38
Conductive hearing loss 123
Congenital ear anomaly NOS (disorder) 29
Congenital small ears 48
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Depressed cheekbone 22
Downward slant of palpebral fissure 158
Dull intelligence 645
Failure of development of eyelashes 16
Flattening of the zygomatic bone 22
Franceschetti-Klein syndrome 3
Frontal bossing 157
Global developmental delay 608
Hypodontia 81
Hypomyelination 17
Hypoplasia of corpus callosum 90
Hypoplasia of the maxilla 66
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypotrophic cheekbone 22
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Intellectual disability 1016
Leukodystrophy 55
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 3
Low Vision 174
Low anterior hairline 30
Low intelligence 645
Lower eyelid coloboma 3
Malar flattening 129
Malformed pinnae 37
Mandibular hypoplasia 275
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Midface retrusion 105
Narrow internal auditory canal 8
Nasal bridge wide 236
Open Bite 21
Osteochondrodysplasias 72
Poor school performance 645
Primary hypogonadism 37
Reduced number of teeth 21
Retrognathia 54
Retrusion of upper jaw bones 66
Short face 4
Small cheekbone 22
Small midface 105
Strabismus 270
Tremor 113
Uranostaphyloschisis 167
Visual Impairment 174
Disease Target Count P-value
ovarian cancer 8520 1.7e-05
dermatomyositis 966 2.2e-04
group 3 medulloblastoma 4104 5.3e-04
lung cancer 4740 1.6e-03
colon cancer 1478 8.3e-03
Disease Target Count Z-score Confidence
Retinitis pigmentosa 12 9 4.624 2.3

Expression

  Differential Expression (5)

Disease log2 FC p
colon cancer 1.200 8.3e-03
dermatomyositis 1.600 2.2e-04
group 3 medulloblastoma 1.200 5.3e-04
lung cancer 1.100 1.6e-03
ovarian cancer 2.300 1.7e-05

Gene RIF (5)

AA Sequence

MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDA      1 - 70
AIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEILAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQF     71 - 140
RLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDL    141 - 210
LMHCVKGIGKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRL    211 - 280
DTFSREIFRNEKLKKVVRLARVRDHYIFSVESTGVLPPDVLVSEAIKVLMGKCRRFLDELDAVQMD        281 - 346
//

Text Mined References (35)

PMID Year Title