malignant peripheral nerve sheath tumor |
Disease ID | 1473 |
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Disease | malignant peripheral nerve sheath tumor |
Definition | A type of soft tissue sarcoma that develops in cells that form a protective sheath (covering) around peripheral nerves, which are nerves that are outside of the central nervous system (brain and spinal cord). |
Synonym | malig. periph. nerve sheath tum. malignant neoplasm of peripheral nerve sheath malignant neoplasm of the peripheral nerve sheath malignant neurilemmoma malignant neurilemmoma (disorder) malignant neurilemmomas malignant neurilemoma malignant neurilemomas malignant peripheral nerve sheath neoplasm malignant peripheral nerve sheath tumor (disorder) malignant peripheral nerve sheath tumor (morphologic abnormality) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) malignant peripheral nerve sheath tumors malignant peripheral nerve sheath tumour malignant schwannoma malignant schwannoma, nos malignant schwannomas malignant tumor of peripheral nerve sheath malignant tumor of the peripheral nerve sheath mpnst mpnst - malignant peripheral nerve sheath tumor mpnst - malignant peripheral nerve sheath tumour mpnsts neurilemmoma, malignant neurilemmomas, malignant neurilemmosarcoma neurilemmosarcomas neurilemoma, malignant neurilemoma, malignant (morphologic abnormality) neurilemomas, malignant neurofibrosarcoma, malignant peripheral nerve sheath tumors, malignant schwannoma, malignant schwannomas, malignant |
Orphanet | |
DOID | |
UMLS | C0751690 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:26) C0085113 | neurofibromatosis | 39 C0027830 | neurofibroma | 7 C0206728 | plexiform neurofibroma | 5 C0027830 | neurofibromas | 3 C1261473 | sarcoma | 3 C0206728 | plexiform neurofibromas | 3 C0039101 | synovial sarcoma | 2 C0018553 | cowden syndrome | 1 C1335929 | schwannomatosis | 1 C0686619 | lymph node metastases | 1 C0019348 | herpes simplex | 1 C0007134 | renal cell carcinoma | 1 C0028866 | third nerve palsy | 1 C0392548 | cauda equina syndrome | 1 C0032326 | pneumothorax | 1 C0019937 | horner's syndrome | 1 C0020255 | hydrocephalus | 1 C0205944 | epithelioid sarcoma | 1 C0007097 | epitheliomas | 1 C0027859 | vestibular schwannoma | 1 C0027809 | schwannoma | 1 C0025286 | meningioma | 1 C0206093 | neuroectodermal tumors | 1 C0494165 | hepatic metastasis | 1 C0279702 | clear cell renal cell carcinoma | 1 C0017075 | ganglioneuroma | 1 |
Curated Gene | (Waiting for update.) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 23394 | ADNP | 1.647 | DISEASES 64400 | AKTIP | 1.067 | DISEASES 9048 | ARTN | 1.509 | DISEASES 54880 | BCOR | 1.197 | DISEASES 79680 | C22orf29 | 1.029 | DISEASES 900 | CCNG1 | 1.585 | DISEASES 4267 | CD99 | 1.905 | DISEASES 1029 | CDKN2A | 2.603 | DISEASES 1032 | CDKN2D | 1.569 | DISEASES 1108 | CHD4 | 1.803 | DISEASES 64764 | CREB3L2 | 4.747 | DISEASES 8454 | CUL1 | 1.149 | DISEASES 1665 | DHX15 | 1.759 | DISEASES 1944 | EFNA3 | 2.964 | DISEASES 1978 | EIF4EBP1 | 1.714 | DISEASES 2130 | EWSR1 | 1.687 | DISEASES 2070 | EYA4 | 2.172 | DISEASES 50628 | GEMIN4 | 1.977 | DISEASES 3039 | HBA1 | 1.166 | DISEASES 55869 | HDAC8 | 1.201 | DISEASES 23072 | HECW1 | 2.901 | DISEASES 9146 | HGS | 1.423 | DISEASES 3161 | HMMR | 2.234 | DISEASES 3609 | ILF3 | 1.797 | DISEASES 56660 | KCNK12 | 2.253 | DISEASES 283518 | KCNRG | 2.475 | DISEASES 9851 | KIAA0753 | 1.629 | DISEASES 688 | KLF5 | 1.128 | DISEASES 3855 | KRT7 | 1.125 | DISEASES 55534 | MAML3 | 2.514 | DISEASES 5609 | MAP2K7 | 1.023 | DISEASES 4151 | MB | 3.077 | DISEASES 4155 | MBP | 1.3 | DISEASES 4193 | MDM2 | 1.815 | DISEASES 2315 | MLANA | 3.529 | DISEASES 4311 | MME | 1.496 | DISEASES 4507 | MTAP | 1.126 | DISEASES 2475 | MTOR | 1.446 | DISEASES 8648 | NCOA1 | 1.324 | DISEASES 4751 | NEK2 | 1.513 | DISEASES 10763 | NES | 1.488 | DISEASES 4763 | NF1 | 6.302 | DISEASES 4771 | NF2 | 3.103 | DISEASES 4782 | NFIC | 3.033 | DISEASES 3084 | NRG1 | 2.361 | DISEASES 5077 | PAX3 | 1.43 | DISEASES 5236 | PGM1 | 1.109 | DISEASES 5728 | PTEN | 1.219 | DISEASES 5757 | PTMA | 1.41 | DISEASES 5789 | PTPRD | 1.329 | DISEASES 5796 | PTPRK | 2.043 | DISEASES 11186 | RASSF1 | 1.082 | DISEASES 6281 | S100A10 | 1.304 | DISEASES 54938 | SARS2 | 1.519 | DISEASES 6513 | SLC2A1 | 1.386 | DISEASES 23583 | SMUG1 | 2.106 | DISEASES 6663 | SOX10 | 3.481 | DISEASES 6760 | SS18 | 2.868 | DISEASES 6756 | SSX1 | 3.26 | DISEASES 727837 | SSX2B | 3.984 | DISEASES 6759 | SSX4 | 1.805 | DISEASES 548313 | SSX4B | 1.811 | DISEASES 7088 | TLE1 | 3.339 | DISEASES 7161 | TP73 | 1.247 | DISEASES 7490 | WT1 | 2.372 | DISEASES 81030 | ZBP1 | 1.621 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 1473 |
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Disease | malignant peripheral nerve sheath tumor |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0001067 | Neurofibromas | 43 HP:0002664 | Neoplasia | 6 HP:0009732 | Plexiform neurofibroma | 5 HP:0100242 | Sarcoma | 3 HP:0012531 | Pain | 2 HP:0012570 | Synovial sarcoma | 2 HP:0002858 | Mengiomia | 1 HP:0003005 | Ganglioneuroma | 1 HP:0100008 | Schwann cell tumour | 1 HP:0002277 | Horner's syndrome | 1 HP:0006770 | Nonpapillary renal cell carcinoma | 1 HP:0000238 | Nonsyndromal hydrocephalus | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0001635 | Congestive heart failure | 1 HP:0002273 | Tetraparesis | 1 HP:0000079 | Urinary tract anomalies | 1 HP:0002239 | Gastrointestinal hemorrhage | 1 HP:0000119 | Genitourinary abnormality | 1 HP:0009588 | Vestibular Schwannoma | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0002107 | Collapsed lung | 1 HP:0012532 | Chronic pain | 1 |
Disease ID | 1473 |
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Disease | malignant peripheral nerve sheath tumor |
Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:17) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10719 | 23763827 | 29102 | DROSHA | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DROSHA | 5 | 31401340 | A | G |
rs10719 | 23763827 | 27161 | AGO2 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DROSHA | 5 | 31401340 | A | G |
rs10719 | 23763827 | 1655 | DDX5 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DROSHA | 5 | 31401340 | A | G |
rs10719 | 23763827 | 50628 | GEMIN4 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DROSHA | 5 | 31401340 | A | G |
rs113488022 | 24335681 | 673 | BRAF | umls:C0751690 | BeFree | Vemurafenib treatment of BRAF V600E-mutated malignant peripheral nerve sheath tumor. | 0.000814326 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
rs1991401 | 23763827 | 50628 | GEMIN4 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DDX5;CEP95 | 17 | 64506317 | A | G |
rs1991401 | 23763827 | 29102 | DROSHA | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DDX5;CEP95 | 17 | 64506317 | A | G |
rs1991401 | 23763827 | 1655 | DDX5 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DDX5;CEP95 | 17 | 64506317 | A | G |
rs1991401 | 23763827 | 27161 | AGO2 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | DDX5;CEP95 | 17 | 64506317 | A | G |
rs7005286 | 23763827 | 1655 | DDX5 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | AGO2 | 8 | 140584361 | T | C |
rs7005286 | 23763827 | 29102 | DROSHA | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | AGO2 | 8 | 140584361 | T | C |
rs7005286 | 23763827 | 27161 | AGO2 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | AGO2 | 8 | 140584361 | T | C |
rs7005286 | 23763827 | 50628 | GEMIN4 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | AGO2 | 8 | 140584361 | T | C |
rs7813 | 23763827 | 27161 | AGO2 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | GEMIN4 | 17 | 744946 | G | A |
rs7813 | 23763827 | 1655 | DDX5 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | GEMIN4 | 17 | 744946 | G | A |
rs7813 | 23763827 | 50628 | GEMIN4 | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | GEMIN4 | 17 | 744946 | G | A |
rs7813 | 23763827 | 29102 | DROSHA | umls:C0751690 | BeFree | Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95% CI, 1.23-2.20, P=8.76 × 10(-4); AGO2 rs7005286, OR=0.48, 95% CI, 0.32-0.72, P=3.46 × 10(-4); GEMIN4 rs7813, OR=0.50, 95% CI, 0.34-0.72, P=2.65 × 10(-4)) were significantly associated with MPNST risk. | 0.000271442 | 2013 | GEMIN4 | 17 | 744946 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 1473 |
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Disease | malignant peripheral nerve sheath tumor |
Case | (Waiting for update.) |