Property Summary

NCBI Gene PubMed Count 68
PubMed Score 1415.10
PubTator Score 149.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Absent radii and thrombocytopenia 1 0.0 0.0
Disease Target Count
thrombocytopenia-absent radius syndrome 6
Thrombocytopenia 197
Absence of radius and ulna 15
Absent radius 15
Adducted thumb 22
Anemia 365
Anteverted nostril 191
Aplasia/hypoplasia of the humerus 1
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Bilateral absence of radius 1
Bilateral fifth finger clinodactyly 110
Blood Coagulation Disorders 42
Brachycephaly 88
Broad cranium shape 88
Broad forehead 59
Broad thumbs 28
Carpal synostosis 12
Coagulation abnormalities 27
Cow milk allergy 1
Coxa valga 22
Coxa valga deformity 22
Curvature of little finger 110
Decreased antibody level in blood 35
Decreased platelet count 111
Dull intelligence 645
Dysseborrheic dermatitis 13
Eosinophilia 28
Epilepsy 792
Genu varum 29
Hemoglobin low 124
Hemorrhagic Disorders 30
High forehead 102
Horseshoe Kidney 16
Hypogammaglobulinemia 35
Hypoplasia or unilateral/bilateral absence of ulna 3
Hypoplastic mandible condyle 275
Intellectual disability 1016
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Meckel Diverticulum 5
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Motor delay 147
Multiple pancreatic cysts 4
No development of motor milestones 147
Pancreatic Cyst 4
Patella aplasia-hypoplasia 12
Patellar aplasia 8
Poor school performance 645
Radial aplasia 15
Seborrheic dermatitis 31
Seizures 596
Shoulder muscle hypoplasia 1
Tall forehead 102
Tibial torsion 1
Ventricular Septal Defects 119
Wide skull shape 88
spina bifida 1074

Expression

  Differential Expression (14)

Disease log2 FC p
acute quadriplegic myopathy 1.178 5.6e-05
astrocytoma 1.300 1.9e-02
Breast cancer 2.600 4.8e-02
glioblastoma 1.100 3.2e-04
group 3 medulloblastoma 1.200 7.4e-05
interstitial cystitis -1.100 1.3e-03
intraductal papillary-mucinous adenoma (... 1.100 9.4e-03
lung cancer -1.500 1.1e-02
malignant mesothelioma 1.400 8.5e-06
medulloblastoma, large-cell 1.500 4.9e-05
ovarian cancer 1.100 2.4e-03
primitive neuroectodermal tumor 1.200 4.9e-05
psoriasis -2.100 3.4e-04
tuberculosis and treatment for 6 months -1.600 4.2e-04

Gene RIF (20)

AA Sequence

MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSV      1 - 70
EGWILFVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLM     71 - 140
GQPISVDWCFVRGPPKGKRRGGRRRSRSPDRRRR                                        141 - 174
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Text Mined References (85)

PMID Year Title