PedAM

Pediatric Disease Annotations & Medicines


	malignant peripheral nerve sheath tumor

Disease ID	913
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	ORPHANET:3148
DOID	DOID:5940
UMLS	C0751690
SNOMED-CT	SNOMEDCT_US_2016_09_01:404037002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0085113 \| neurofibromatosis \| 23 C0027830 \| neurofibroma \| 4 C0206728 \| plexiform neurofibroma \| 2 C0027830 \| neurofibromas \| 1 C0018553 \| cowden syndrome \| 1 C0279702 \| clear cell renal cell carcinoma \| 1 C0017075 \| ganglioneuroma \| 1 C0205944 \| epithelioid sarcoma \| 1 C0027859 \| vestibular schwannoma \| 1 C0039101 \| synovial sarcoma \| 1 C0020255 \| hydrocephalus \| 1 C0458219 \| complex regional pain syndrome \| 1 C0206093 \| neuroectodermal tumors \| 1 C0025286 \| meningioma \| 1 C0007134 \| renal cell carcinoma \| 1 C0494165 \| hepatic metastasis \| 1 C1261473 \| sarcoma \| 1 C0019348 \| herpes simplex \| 1 C0392548 \| cauda equina syndrome \| 1 C0027809 \| schwannoma \| 1 C0206728 \| plexiform neurofibromas \| 1 C0028866 \| third nerve palsy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:131) 5898 \| RALA \| DISEASES 4826 \| NNAT \| DISEASES 23030 \| KDM4B \| DISEASES 4804 \| NGFR \| DISEASES 4335 \| MNT \| DISEASES 8839 \| WISP2 \| DISEASES 3691 \| ITGB4 \| DISEASES 8079 \| MLF2 \| DISEASES 6790 \| AURKA \| DISEASES 6198 \| RPS6KB1 \| DISEASES 1655 \| DDX5 \| DISEASES 595 \| CCND1 \| DISEASES 2026 \| ENO2 \| DISEASES 4656 \| MYOG \| DISEASES 8082 \| SSPN \| DISEASES 55831 \| EMC3 \| DISEASES 29997 \| GLTSCR2 \| DISEASES 4654 \| MYOD1 \| DISEASES 968 \| CD68 \| DISEASES 8840 \| WISP1 \| DISEASES 10389 \| SCML2 \| DISEASES 2670 \| GFAP \| DISEASES 2521 \| FUS \| DISEASES 22856 \| CHSY1 \| DISEASES 8546 \| AP3B1 \| DISEASES 8900 \| CCNA1 \| DISEASES 10752 \| CHL1 \| DISEASES 5156 \| PDGFRA \| DISEASES 1019 \| CDK4 \| DISEASES 6302 \| TSPAN31 \| DISEASES 4856 \| NOV \| DISEASES 8140 \| SLC7A5 \| DISEASES 5159 \| PDGFRB \| DISEASES 5605 \| MAP2K2 \| DISEASES 6598 \| SMARCB1 \| DISEASES 6855 \| SYP \| DISEASES 7299 \| TYR \| DISEASES 1386 \| ATF2 \| DISEASES 7157 \| TP53 \| DISEASES 57410 \| SCYL1 \| DISEASES 207 \| AKT1 \| DISEASES 1956 \| EGFR \| DISEASES 85417 \| CCNB3 \| DISEASES 1030 \| CDKN2B \| DISEASES 7345 \| UCHL1 \| DISEASES 1525 \| CXADR \| DISEASES 64798 \| DEPTOR \| DISEASES 701 \| BUB1B \| DISEASES 3815 \| KIT \| DISEASES 3837 \| KPNB1 \| DISEASES 9965 \| FGF19 \| DISEASES 4286 \| MITF \| DISEASES 134147 \| CMBL \| DISEASES 10206 \| TRIM13 \| DISEASES 332 \| BIRC5 \| DISEASES 55872 \| PBK \| DISEASES 5604 \| MAP2K1 \| DISEASES 794 \| CALB2 \| DISEASES 27087 \| B3GAT1 \| DISEASES 55695 \| NSUN5 \| DISEASES 947 \| CD34 \| DISEASES 55279 \| ZNF654 \| DISEASES 998 \| CDC42 \| DISEASES 23512 \| SUZ12 \| DISEASES 4684 \| NCAM1 \| DISEASES 8648 \| NCOA1 \| DISEASES 50628 \| GEMIN4 \| DISEASES 3039 \| HBA1 \| DISEASES 283518 \| KCNRG \| DISEASES 8454 \| CUL1 \| DISEASES 56660 \| KCNK12 \| DISEASES 64764 \| CREB3L2 \| DISEASES 3855 \| KRT7 \| DISEASES 79680 \| C22orf29 \| DISEASES 9146 \| HGS \| DISEASES 7490 \| WT1 \| DISEASES 1665 \| DHX15 \| DISEASES 1032 \| CDKN2D \| DISEASES 23583 \| SMUG1 \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 23394 \| ADNP \| DISEASES 5757 \| PTMA \| DISEASES 900 \| CCNG1 \| DISEASES 4771 \| NF2 \| DISEASES 2070 \| EYA4 \| DISEASES 5789 \| PTPRD \| DISEASES 3084 \| NRG1 \| DISEASES 1108 \| CHD4 \| DISEASES 11186 \| RASSF1 \| DISEASES 4763 \| NF1 \| DISEASES 4151 \| MB \| DISEASES 4311 \| MME \| DISEASES 6663 \| SOX10 \| DISEASES 2475 \| MTOR \| DISEASES 9851 \| KIAA0753 \| DISEASES 4751 \| NEK2 \| DISEASES 5796 \| PTPRK \| DISEASES 10763 \| NES \| DISEASES 1944 \| EFNA3 \| DISEASES 6281 \| S100A10 \| DISEASES 5236 \| PGM1 \| DISEASES 81030 \| ZBP1 \| DISEASES 5728 \| PTEN \| DISEASES 55869 \| HDAC8 \| DISEASES 727837 \| SSX2B \| DISEASES 7088 \| TLE1 \| DISEASES 548313 \| SSX4B \| DISEASES 6759 \| SSX4 \| DISEASES 6756 \| SSX1 \| DISEASES 688 \| KLF5 \| DISEASES 7161 \| TP73 \| DISEASES 54880 \| BCOR \| DISEASES 4507 \| MTAP \| DISEASES 4267 \| CD99 \| DISEASES 2315 \| MLANA \| DISEASES 4155 \| MBP \| DISEASES 5077 \| PAX3 \| DISEASES 3161 \| HMMR \| DISEASES 64400 \| AKTIP \| DISEASES 23072 \| HECW1 \| DISEASES 5609 \| MAP2K7 \| DISEASES 9048 \| ARTN \| DISEASES 1029 \| CDKN2A \| DISEASES 2130 \| EWSR1 \| DISEASES 3609 \| ILF3 \| DISEASES 6760 \| SS18 \| DISEASES 6513 \| SLC2A1 \| DISEASES 4193 \| MDM2 \| DISEASES 55534 \| MAML3 \| DISEASES 4782 \| NFIC \| DISEASES 54938 \| SARS2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	913
Disease	malignant peripheral nerve sheath tumor
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001067 \| Neurofibromas \| 24 HP:0009732 \| Plexiform neurofibroma \| 2 HP:0002664 \| Neoplasia \| 2 HP:0009588 \| Vestibular Schwannoma \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0006770 \| Nonpapillary renal cell carcinoma \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0100242 \| Sarcoma \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0012531 \| Pain \| 1 HP:0012570 \| Synovial sarcoma \| 1 HP:0002858 \| Mengiomia \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0003005 \| Ganglioneuroma \| 1

Disease ID	913
Disease	malignant peripheral nerve sheath tumor
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1963078 \| brachial plexopathy C0153676 \| lung metastasis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:17)
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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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