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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   chordoma
  

Disease ID 890
Disease chordoma
Definition
A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)
Synonym
chdm
chordoma (morphologic abnormality)
chordoma [disease/finding]
chordoma, malignant
chordoma, susceptibility to
chordomas
notochordoma
Orphanet
OMIM
DOID
UMLS
C0008487
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:9)
C0041341  |  tuberous sclerosis  |  3
C0041341  |  tuberous sclerosis complex  |  2
C0019829  |  hodgkin's disease  |  1
C1334699  |  mesenchymal tumor  |  1
C0392548  |  cauda equina syndrome  |  1
C0153676  |  pulmonary metastases  |  1
C0153676  |  lung metastases  |  1
C0027765  |  neurological disease  |  1
C0205945  |  spindle cell sarcoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
6862  |  T  |  CTD_human;ORPHANET;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:71)
176  |  ACAN  |  1.616  |  DISEASES
171023  |  ASXL1  |  1.659  |  DISEASES
9334  |  B4GALT5  |  1.722  |  DISEASES
54880  |  BCOR  |  2.082  |  DISEASES
29126  |  CD274  |  1.969  |  DISEASES
1029  |  CDKN2A  |  1.987  |  DISEASES
64764  |  CREB3L2  |  2.839  |  DISEASES
1499  |  CTNNB1  |  1.746  |  DISEASES
192668  |  CYS1  |  1.58  |  DISEASES
1855  |  DVL1  |  1.315  |  DISEASES
1977  |  EIF4E  |  1.455  |  DISEASES
1978  |  EIF4EBP1  |  1.762  |  DISEASES
2050  |  EPHB4  |  1.135  |  DISEASES
2066  |  ERBB4  |  1.198  |  DISEASES
2117  |  ETV3  |  1.267  |  DISEASES
2130  |  EWSR1  |  2.039  |  DISEASES
51013  |  EXOSC1  |  1.885  |  DISEASES
2258  |  FGF13  |  1.27  |  DISEASES
9146  |  HGS  |  1.529  |  DISEASES
8352  |  HIST1H3C  |  1.881  |  DISEASES
8353  |  HIST1H3E  |  1.887  |  DISEASES
8356  |  HIST1H3J  |  1.885  |  DISEASES
3250  |  HPR  |  1.632  |  DISEASES
3712  |  IVD  |  1.599  |  DISEASES
3875  |  KRT18  |  1.05  |  DISEASES
3880  |  KRT19  |  3.083  |  DISEASES
3855  |  KRT7  |  2.837  |  DISEASES
9935  |  MAFB  |  1.465  |  DISEASES
4193  |  MDM2  |  1.098  |  DISEASES
2315  |  MLANA  |  1.034  |  DISEASES
4312  |  MMP1  |  1.501  |  DISEASES
4318  |  MMP9  |  1.1  |  DISEASES
9112  |  MTA1  |  1.064  |  DISEASES
4507  |  MTAP  |  3.124  |  DISEASES
2475  |  MTOR  |  1.869  |  DISEASES
4914  |  NTRK1  |  1.161  |  DISEASES
390874  |  ONECUT3  |  1.9  |  DISEASES
23762  |  OSBP2  |  1.794  |  DISEASES
100630918  |  PARTICL  |  3.02  |  DISEASES
55193  |  PBRM1  |  1.371  |  DISEASES
80380  |  PDCD1LG2  |  1.843  |  DISEASES
5154  |  PDGFA  |  1.644  |  DISEASES
5155  |  PDGFB  |  2.395  |  DISEASES
5241  |  PGR  |  1.263  |  DISEASES
8544  |  PIR  |  1.192  |  DISEASES
5728  |  PTEN  |  2.439  |  DISEASES
8434  |  RECK  |  1.106  |  DISEASES
6207  |  RPS13  |  1.281  |  DISEASES
389432  |  SAMD5  |  3.15  |  DISEASES
23328  |  SASH1  |  2.14  |  DISEASES
12  |  SERPINA3  |  1.347  |  DISEASES
10166  |  SLC25A15  |  1.588  |  DISEASES
4090  |  SMAD5  |  1.513  |  DISEASES
23583  |  SMUG1  |  1.791  |  DISEASES
6657  |  SOX2  |  1.456  |  DISEASES
11166  |  SOX21  |  2.703  |  DISEASES
6660  |  SOX5  |  2.587  |  DISEASES
55553  |  SOX6  |  3.11  |  DISEASES
6736  |  SRY  |  1.503  |  DISEASES
4070  |  TACSTD2  |  1.07  |  DISEASES
100134934  |  TEN1  |  2.002  |  DISEASES
8764  |  TNFRSF14  |  1.221  |  DISEASES
7227  |  TRPS1  |  1.57  |  DISEASES
7280  |  TUBB2A  |  1.801  |  DISEASES
10381  |  TUBB3  |  1.747  |  DISEASES
10383  |  TUBB4B  |  2.375  |  DISEASES
7306  |  TYRP1  |  1.68  |  DISEASES
7347  |  UCHL3  |  2.297  |  DISEASES
7422  |  VEGFA  |  1.048  |  DISEASES
7503  |  XIST  |  1.33  |  DISEASES
84107  |  ZIC4  |  2.195  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
T  |  6q27
Disease ID 890
Disease chordoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0002664  |  Neoplasia  |  13
HP:0002315  |  Headaches  |  1
HP:0011029  |  Internal bleeding  |  1
HP:0012318  |  Occipital neuralgia  |  1
HP:0002170  |  Intracranial hemorrhage  |  1
HP:0002385  |  Paraparesis  |  1
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0100033  |  Tic disorder  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0030746  |  Intraventricular hemorrhage  |  1
Disease ID 890
Disease chordoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:10)
C2598155  |  pain
C1608408  |  malignant transformation
C0751078  |  intermittent diplopia
C0334463  |  malignant fibrous histiocytoma
C0262576  |  nerve palsy
C0158242  |  cervical spinal cord compression
C0153687  |  cutaneous metastasis
C0153676  |  lung metastasis
C0038525  |  subarachnoid hemorrhage
C0007682  |  cns disease
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:0)
(Waiting for update.)
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 890
Disease chordoma
Case(Waiting for update.)