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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   alveolar echinococcosis
  

Disease ID 1513
Disease alveolar echinococcosis
Definition
An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. [url:http://en.wikipedia.org/wiki/Echinococcosis, url:http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm] - NORD
Reference: NORD
Orphanet
DOID
UMLS
C0948954
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:5)
3105  |  HLA-A  |  CIPHER
3106  |  HLA-B  |  CIPHER
3107  |  HLA-C  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:53)
273  |  AMPH  |  1.56  |  DISEASES
6354  |  CCL7  |  1.161  |  DISEASES
959  |  CD40LG  |  1.838  |  DISEASES
942  |  CD86  |  2.268  |  DISEASES
1066  |  CES1  |  3.937  |  DISEASES
2017  |  CTTN  |  1.357  |  DISEASES
2009  |  EML1  |  2.801  |  DISEASES
2013  |  EMP2  |  2.349  |  DISEASES
50943  |  FOXP3  |  1.456  |  DISEASES
2526  |  FUT4  |  1.439  |  DISEASES
3105  |  HLA-A  |  1.308  |  DISEASES
3115  |  HLA-DPB1  |  1.363  |  DISEASES
3123  |  HLA-DRB1  |  1.463  |  DISEASES
338376  |  IFNE  |  2.718  |  DISEASES
3586  |  IL10  |  3.105  |  DISEASES
3605  |  IL17A  |  1.754  |  DISEASES
112744  |  IL17F  |  1.103  |  DISEASES
386653  |  IL31  |  1.605  |  DISEASES
3662  |  IRF4  |  1.111  |  DISEASES
3767  |  KCNJ11  |  1.326  |  DISEASES
3963  |  LGALS7  |  1.369  |  DISEASES
100885779  |  LINC-ROR  |  1.522  |  DISEASES
5606  |  MAP2K3  |  1.699  |  DISEASES
4478  |  MSN  |  1.301  |  DISEASES
4508  |  MT-ATP6  |  1.541  |  DISEASES
4512  |  MT-CO1  |  2.191  |  DISEASES
4535  |  MT-ND1  |  1.807  |  DISEASES
4536  |  MT-ND2  |  1.761  |  DISEASES
4540  |  MT-ND5  |  1.669  |  DISEASES
11188  |  NISCH  |  1.724  |  DISEASES
3164  |  NR4A1  |  2.206  |  DISEASES
2649  |  NR6A1  |  2.089  |  DISEASES
5016  |  OVGP1  |  2.759  |  DISEASES
10957  |  PNRC1  |  2.675  |  DISEASES
5962  |  RDX  |  1.464  |  DISEASES
6189  |  RPS3A  |  2.281  |  DISEASES
6195  |  RPS6KA1  |  1.322  |  DISEASES
6196  |  RPS6KA2  |  1.808  |  DISEASES
6197  |  RPS6KA3  |  1.493  |  DISEASES
51100  |  SH3GLB1  |  3.232  |  DISEASES
347734  |  SLC35B2  |  1.655  |  DISEASES
23583  |  SMUG1  |  2.982  |  DISEASES
54558  |  SPATA6  |  3.16  |  DISEASES
6696  |  SPP1  |  1.146  |  DISEASES
55576  |  STAB2  |  1.921  |  DISEASES
4070  |  TACSTD2  |  1.649  |  DISEASES
7059  |  THBS3  |  4.035  |  DISEASES
117145  |  THEM4  |  2.037  |  DISEASES
7124  |  TNF  |  1.2  |  DISEASES
8718  |  TNFRSF25  |  1.42  |  DISEASES
1861  |  TOR1A  |  1.671  |  DISEASES
22803  |  XRN2  |  3.109  |  DISEASES
81030  |  ZBP1  |  2.218  |  DISEASES
Locus(Waiting for update.)
Disease ID 1513
Disease alveolar echinococcosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:2)
Disease ID 1513
Disease alveolar echinococcosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:8)
C0752303  |  urological manifestations
C0220650  |  brain metastasis
C0153676  |  pulmonary metastasis
C0153676  |  pulmonary metastases
C0153676  |  lung metastasis
C0043528  |  zoonoses
C0020541  |  portal hypertension
C0004936  |  mental disorders
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 1513
Disease alveolar echinococcosis
Case(Waiting for update.)