Property Summary

Ligand Count 2
NCBI Gene PubMed Count 94
PubMed Score 144.21
PubTator Score 126.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal vertebral ossification 5
Abnormality of epiphysis morphology 39
Abnormality of the fingernails 51
Abnormality of the metaphyses 48
Anterior rib cupping 6
Anteverted nostril 191
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Big calvaria 147
Brachydactyly 156
Concave bridge of nose 195
Cryptorchidism 296
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diabetes Mellitus, Non-Insulin-Dependent 145
Dwarfism 37
Edema 81
Fibular hypoplasia 9
Flat acetabular roof 10
Flat back of the head 26
Flat occiput 26
Frontal bossing 157
Hooked clavicle 5
Hypertensive disease 292
Hypoplastic feet 66
Hypoplastic ilia 12
Hypoplastic ischia 11
Hypoplastic pubic bone 7
Hypoplastic scapulae 14
Hypoplastic toenails 22
Hypoplastic vertebral bodies 7
Hypotrophic malar bone 129
Increased fibular diameter 4
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Long narrow head 75
Long philtrum 137
Lymphatic obstruction 21
Lymphedema 42
Malar flattening 129
Metabolic syndrome X 52
Metaphyseal cupping 10
Micromelia 58
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Narrow thorax 53
Onset of lymphedema around puberty 21
Orbital separation excessive 244
Polyhydramnios 108
Posterior rib cupping 5
Protuberant abdomen 16
Recurrent respiratory infections 141
Respiratory Insufficiency 132
Respiratory function loss 121
Rhizomelia 25
Severe platyspondyly 5
Short hands 50
Short limb dwarfism, disproportionate 22
Short neck 140
Short nose 132
Short ribs 30
Short tubular bones 22
Small nose 132
Small wings of the pelvic girdle 12
Square iliac bones 4
Tapering fingers (finding) 25
Turridolichocephaly 75
Wide bregma sutures 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
diabetes mellitus 1728 3.417 1.7
Disease Target Count Z-score Confidence
Oculocerebrorenal syndrome 29 3.642 1.8
Disease Target Count
Schneckenbecken dysplasia 5

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytoma 1.100 1.0e-22
ependymoma 1.100 1.9e-02
glioblastoma multiforme 1.200 3.7e-28
group 4 medulloblastoma -1.600 7.2e-05
lung carcinoma 1.300 2.2e-15
medulloblastoma, large-cell -1.600 5.2e-05
osteosarcoma 1.237 2.7e-04
ovarian cancer 1.100 8.9e-06
subependymal giant cell astrocytoma 1.105 3.5e-02

Gene RIF (72)

AA Sequence

MASACGAPGPGGALGSQAPSWYHRDLSRAAAEELLARAGRDGSFLVRDSESVAGAFALCVLYQKHVHTYR      1 - 70
ILPDGEDFLAVQTSQGVPVRRFQTLGELIGLYAQPNQGLVCALLLPVEGEREPDPPDDRDASDGEDEKPP     71 - 140
LPPRSGSTSISAPTGPSSPLPAPETPTAPAAESAPNGLSTVSHDYLKGSYGLDLEAVRGGASHLPHLTRT    141 - 210
LATSCRRLHSEVDKVLSGLEILSKVFDQQSSPMVTRLLQQQNLPQTGEQELESLVLKLSVLKDFLSGIQK    211 - 280
KALKALQDMSSTAPPAPQPSTRKAKTIPVQAFEVKLDVTLGDLTKIGKSQKFTLSVDVEGGRLVLLRRQR    281 - 350
DSQEDWTTFTHDRIRQLIKSQRVQNKLGVVFEKEKDRTQRKDFIFVSARKREAFCQLLQLMKNKHSKQDE    351 - 420
PDMISVFIGTWNMGSVPPPKNVTSWFTSKGLGKTLDEVTVTIPHDIYVFGTQENSVGDREWLDLLRGGLK    421 - 490
ELTDLDYRPIAMQSLWNIKVAVLVKPEHENRISHVSTSSVKTGIANTLGNKGAVGVSFMFNGTSFGFVNC    491 - 560
HLTSGNEKTARRNQNYLDILRLLSLGDRQLNAFDISLRFTHLFWFGDLNYRLDMDIQEILNYISRKEFEP    561 - 630
LLRVDQLNLEREKHKVFLRFSEEEISFPPTYRYERGSRDTYAWHKQKPTGVRTNVPSWCDRILWKSYPET    631 - 700
HIICNSYGCTDDIVTSDHSPVFGTFEVGVTSQFISKKGLSKTSDQAYIEFESIEAIVKTASRTKFFIEFY    701 - 770
STCLEEYKKSFENDAQSSDNINFLKVQWSSRQLPTLKPILADIEYLQDQHLLLTVKSMDGYESYGECVVA    771 - 840
LKSMIGSTAQQFLTFLSHRGEETGNIRGSMKVRVPTERLGTRERLYEWISIDKDEAGAKSKAPSVSRGSQ    841 - 910
EPRSGSRKPAFTEASCPLSRLFEEPEKPPPTGRPPAPPRAAPREEPLTPRLKPEGAPEPEGVAAPPPKNS    911 - 980
FNNPAYYVLEGVPHQLLPPEPPSPARAPVPSATKNKVAITVPAPQLGHHRHPRVGEGSSSDEESGGTLPP    981 - 1050
PDFPPPPLPDSAIFLPPSLDPLPGPVVRGRGGAEARGPPPPKAHPRPPLPPGPSPASTFLGEVASGDDRS   1051 - 1120
CSVLQMAKTLSEVDYAPAGPARSALLPGPLELQPPRGLPSDYGRPLSFPPPRIRESIQEDLAEEAPCLQG   1121 - 1190
GRASGLGEAGMSAWLRAIGLERYEEGLVHNGWDDLEFLSDITEEDLEEAGVQDPAHKRLLLDTLQLSK     1191 - 1258
//

Text Mined References (110)

PMID Year Title