Debug Stats | ### Total Build Time: 54 ms 45.702 KB CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 322 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 735 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 187 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 558 bytesCONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.398 KBCONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 5.332 KBCONCEPT_RELATIONSHIPS gt=20 ms Completed: 20 ms rowSize= 14.679 KBCONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 21.359 KBCONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
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Genes (65)
Species: human : 65 | |
Human | SPRED1 | 161742 | sprouty-related, EVH1 domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | UHMK1 | 127933 | U2AF homology motif (UHM) kinase 1 | On the other hand, the KIS gene was overexpressed in NF1-associated plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNSTs) as compared to dermal neurofibroma which suggests a possible implication of KIS in the genesis of NF1-associated tumors. | Human | INHBE | 83729 | inhibin, beta E | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | UTP6 | 55813 | UTP6, small subunit (SSU) processome component, homolog (yeast) | Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA272195 (centaurin-alpha2), NF1, OMGP, EVI2A, EVI2B, WI-9521, HSA272196, HCA66, KIAA0160, and WI-12393) may contribute to the severe phenotype of these patients. | Human | ADAP2 | 55803 | ArfGAP with dual PH domains 2 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SPA17 | 53340 | sperm autoantigenic protein 17 | METHODS : The expression of Sp17 was assessed by means of a standardised immunohistochemical procedure [(mAb/antigen) MF1/Sp17] in formalin-fixed and paraffin embedded surgical specimens of NS malignancies, including 28 neuroectodermal primary tumours (6 astrocytomas, 16 glioblastoma multiforme, 5 oligodendrogliomas, and 1 ependymoma), 25 meningeal tumours, and five peripheral nerve sheath tumours (4 schwannomas, and 1 neurofibroma),. | Human | IL23A | 51561 | interleukin 23, alpha subunit p19 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SUZ12 | 23512 | SUZ12 polycomb repressive complex 2 subunit | Since patients with the NF1 large-deletion syndrome have a significantly increased risk of neurofibroma development and mental retardation, hemizygosity for genes from the deleted region around the neurofibromin locus (CYTOR4, FLJ12735, FLJ22729, HSA272195 (centaurin-alpha2), NF1, OMGP, EVI2A, EVI2B, WI-9521, HSA272196, HCA66, KIAA0160, and WI-12393) may contribute to the severe phenotype of these patients. | Human | SPINK5 | 11005 | serine peptidase inhibitor, Kazal type 5 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | MVP | 9961 | major vault protein | Expression of MVP/LRP was observed in 81.2% (56/69) of primary nervous system tumors, including astrocytomas (11/13), oligodendrogliomas (1/2), oligoastrocytomas (5/5), ependymoma (1/1), meningiomas (35/45), schwannomas (2/2), and neurofibroma (1/1). | Human | RGS6 | 9628 | regulator of G-protein signaling 6 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | IQGAP1 | 8826 | IQ motif containing GTPase activating protein 1 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | TP63 | 8626 | tumor protein p63 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | AKAP1 | 8165 | A kinase (PRKA) anchor protein 1 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SCG2 | 7857 | secretogranin II | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | EZR | 7430 | ezrin | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | TNXB | 7148 | tenascin XB | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | TIMP3 | 7078 | TIMP metallopeptidase inhibitor 3 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SYP | 6855 | synaptophysin | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | STK11 | 6794 | serine/threonine kinase 11 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SRY | 6736 | sex determining region Y | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 | We examined the expression of transcription factors PAX3, PAX7, AP-2alpha, and SOX10 in human embryos and neuroectodermal tumors: neurofibroma, schwannoma, neuroblastoma, malignant nerve sheath tumor, melanoma, medulloblastoma, supratentorial primitive neuroectodermal tumor, and Ewing;s sarcoma. | Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | RASA1 | 5921 | RAS p21 protein activator (GTPase activating protein) 1 | INFERRED, Score=800, UMLKSK CUI: C0027830 | Human | QDPR | 5860 | quinoid dihydropteridine reductase | INFERRED, Score=800, UMLKSK CUI: C0027830 |
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