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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   asbestosis
  

Disease ID 971
Disease asbestosis
Definition
A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium.
Synonym
amianthosis
asbestos pneumoconiosis
asbestoses
asbestosis (disorder)
asbestosis [disease/finding]
asbestosis nos
asbestosis nos (disorder)
pulmonary asbestosis
Orphanet
DOID
UMLS
C0003949
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0242379  |  lung cancer  |  6
C0034069  |  pulmonary fibrosis  |  3
C0032273  |  pneumoconiosis  |  1
C0041296  |  tuberculosis  |  1
C0032326  |  pneumothorax  |  1
C1800706  |  usual interstitial pneumonia  |  1
C0040188  |  tic disorders  |  1
C0282193  |  iron overload  |  1
C1800706  |  idiopathic pulmonary fibrosis  |  1
C0021053  |  immune disease  |  1
C0024623  |  gastric cancer  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:6)
2952  |  GSTT1  |  CTD_human
4843  |  NOS2  |  CTD_human
1649  |  DDIT3  |  CTD_human
5265  |  SERPINA1  |  CTD_human
3309  |  HSPA5  |  CTD_human
22926  |  ATF6  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
2944  |  GSTM1  |  CIPHER
2950  |  GSTP1  |  CIPHER
2952  |  GSTT1  |  CIPHER;CTD_human
5265  |  SERPINA1  |  CIPHER;CTD_human
4843  |  NOS2  |  CTD_human
3309  |  HSPA5  |  CTD_human
1649  |  DDIT3  |  CTD_human
22926  |  ATF6  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:55)
9447  |  AIM2  |  1.402  |  DISEASES
665  |  BNIP3L  |  1.766  |  DISEASES
153571  |  C5orf38  |  1.948  |  DISEASES
834  |  CASP1  |  1.107  |  DISEASES
842  |  CASP9  |  1.291  |  DISEASES
942  |  CD86  |  1.377  |  DISEASES
1029  |  CDKN2A  |  1.151  |  DISEASES
1675  |  CFD  |  2.288  |  DISEASES
9075  |  CLDN2  |  1.371  |  DISEASES
1365  |  CLDN3  |  1.215  |  DISEASES
1364  |  CLDN4  |  1.043  |  DISEASES
1366  |  CLDN7  |  1.433  |  DISEASES
51428  |  DDX41  |  3.525  |  DISEASES
1805  |  DPT  |  2.319  |  DISEASES
1837  |  DTNA  |  1.903  |  DISEASES
2202  |  EFEMP1  |  1.494  |  DISEASES
10495  |  ENOX2  |  3.037  |  DISEASES
646480  |  FABP9  |  2.364  |  DISEASES
27022  |  FOXD3  |  1.592  |  DISEASES
5348  |  FXYD1  |  1.527  |  DISEASES
51343  |  FZR1  |  3.584  |  DISEASES
2950  |  GSTP1  |  1.11  |  DISEASES
3240  |  HP  |  1.002  |  DISEASES
3725  |  JUN  |  1.068  |  DISEASES
3798  |  KIF5A  |  1.899  |  DISEASES
9622  |  KLK4  |  1.088  |  DISEASES
26119  |  LDLRAP1  |  1.722  |  DISEASES
90550  |  MCU  |  1.627  |  DISEASES
4318  |  MMP9  |  1.042  |  DISEASES
10232  |  MSLN  |  4.295  |  DISEASES
4771  |  NF2  |  1.206  |  DISEASES
58484  |  NLRC4  |  1.24  |  DISEASES
114548  |  NLRP3  |  1.68  |  DISEASES
199713  |  NLRP7  |  2.151  |  DISEASES
142  |  PARP1  |  1.106  |  DISEASES
5155  |  PDGFB  |  1.392  |  DISEASES
5831  |  PYCR1  |  1.731  |  DISEASES
404552  |  SCGB1D4  |  1.545  |  DISEASES
5265  |  SERPINA1  |  2.212  |  DISEASES
1992  |  SERPINB1  |  1.375  |  DISEASES
23410  |  SIRT3  |  1.819  |  DISEASES
23408  |  SIRT5  |  1.26  |  DISEASES
51548  |  SIRT6  |  1.076  |  DISEASES
51547  |  SIRT7  |  1.226  |  DISEASES
4891  |  SLC11A2  |  1.351  |  DISEASES
94161  |  SNORD46  |  2.374  |  DISEASES
6648  |  SOD2  |  1.84  |  DISEASES
6649  |  SOD3  |  3.25  |  DISEASES
6696  |  SPP1  |  1.396  |  DISEASES
63826  |  SRR  |  1.376  |  DISEASES
81550  |  TDRD3  |  3.601  |  DISEASES
7042  |  TGFB2  |  1.414  |  DISEASES
81542  |  TMX1  |  2.58  |  DISEASES
7124  |  TNF  |  1.558  |  DISEASES
7171  |  TPM4  |  2.276  |  DISEASES
Locus(Waiting for update.)
Disease ID 971
Disease asbestosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0002206  |  Pulmonary fibrosis  |  3
HP:0100033  |  Tic disorder  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0012126  |  Gastric cancer  |  1
HP:0002107  |  Collapsed lung  |  1
Disease ID 971
Disease asbestosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:33)
C2082566  |  bilateral pleurisy
C2073625  |  pleural effusion
C1711276  |  carcinosarcoma of lung
C1377913  |  pleural mesothelioma
C1377610  |  peritoneal mesothelioma
C0748159  |  pulmonary involvement
C0684249  |  lung carcinoma
C0684249  |  lung cancers
C0684249  |  lung cancer
C0684249  |  carcinoma of the lung
C0549493  |  alveolitis
C0345967  |  malignant mesothelioma
C0265144  |  chronic constrictive pericarditis
C0264545  |  pleural fibrosis
C0264492  |  chronic respiratory failure
C0240035  |  interstitial fibrosis
C0238074  |  cor pulmonale
C0238074  |  chronic cor pulmonale
C0206062  |  interstitial lung disease
C0153494  |  cancer of the pleura
C0152013  |  adenocarcinoma of the lung
C0041327  |  pulmonary tuberculosis
C0035229  |  respiratory insufficiency
C0035204  |  respiratory disorders
C0034069  |  pulmonary fibrosis
C0034069  |  lung fibrosis
C0026764  |  multiple myeloma
C0025500  |  mesotheliomas
C0025500  |  mesothelioma
C0024121  |  pulmonary neoplasms
C0007121  |  bronchogenic carcinoma
C0007121  |  bronchial cancer
C0001883  |  airway obstruction
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C0242379  |  lung cancer  |  6
C0034069  |  pulmonary fibrosis  |  3
C0025500  |  mesothelioma  |  2
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 971
Disease asbestosis
Case(Waiting for update.)