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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   malignant peripheral nerve sheath tumor
  

Disease ID 1473
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
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
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.)
Text Mining Genotype(Total 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
rs107192376382729102DROSHAumls:C0751690BeFreeFour 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.0.0002714422013DROSHA531401340AG
rs107192376382727161AGO2umls:C0751690BeFreeFour 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.0.0002714422013DROSHA531401340AG
rs10719237638271655DDX5umls:C0751690BeFreeFour 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.0.0002714422013DROSHA531401340AG
rs107192376382750628GEMIN4umls:C0751690BeFreeFour 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.0.0002714422013DROSHA531401340AG
rs11348802224335681673BRAFumls:C0751690BeFreeVemurafenib treatment of BRAF V600E-mutated malignant peripheral nerve sheath tumor.0.0008143262014BRAF7140753336AT,G,C
rs19914012376382750628GEMIN4umls:C0751690BeFreeFour 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.0.0002714422013DDX5;CEP951764506317AG
rs19914012376382729102DROSHAumls:C0751690BeFreeFour 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.0.0002714422013DDX5;CEP951764506317AG
rs1991401237638271655DDX5umls:C0751690BeFreeFour 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.0.0002714422013DDX5;CEP951764506317AG
rs19914012376382727161AGO2umls:C0751690BeFreeFour 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.0.0002714422013DDX5;CEP951764506317AG
rs7005286237638271655DDX5umls:C0751690BeFreeFour 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.0.0002714422013AGO28140584361TC
rs70052862376382729102DROSHAumls:C0751690BeFreeFour 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.0.0002714422013AGO28140584361TC
rs70052862376382727161AGO2umls:C0751690BeFreeFour 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.0.0002714422013AGO28140584361TC
rs70052862376382750628GEMIN4umls:C0751690BeFreeFour 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.0.0002714422013AGO28140584361TC
rs78132376382727161AGO2umls:C0751690BeFreeFour 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.0.0002714422013GEMIN417744946GA
rs7813237638271655DDX5umls:C0751690BeFreeFour 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.0.0002714422013GEMIN417744946GA
rs78132376382750628GEMIN4umls:C0751690BeFreeFour 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.0.0002714422013GEMIN417744946GA
rs78132376382729102DROSHAumls:C0751690BeFreeFour 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.0.0002714422013GEMIN417744946GA
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.)
Disease ID 1473
Disease malignant peripheral nerve sheath tumor
Case(Waiting for update.)