eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| anthracosis | ||||
| Disease ID | 619 |
|---|---|
| Disease | anthracosis |
| Definition | A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers. |
| Synonym | anthracoses anthracosis [disease/finding] black lung black lung disease black lung diseases black lungs coal lung miners coal lungs worker's coal miner lung coal miner's lung coal miner's lungs coal miner's pneumoconiosis coal miners lung coal miners pneumoconiosis coal miners' lung coal miners' pneumoconiosis coal pneumoconiosis coal pneumoconiosis workers coal pneumoconiosis workers' coal worker pneumoconiosis coal worker's lung coal worker's pneumoconioses coal worker's pneumoconiosis coal workers pneumoconiosis coal workers' lung coal workers' pneumocon coal workers' pneumoconiosis coal workers' pneumoconiosis (disorder) coalworker pneumoconiosis coalworker's pneumoconioses coalworker's pneumoconiosis coalworkers pneumoconiosis collier lung colliers' anthracosis colliers' lung cwp - coalworkers pneumoconiosis lung melanosis lung, black lungs, black melanedema melanoedema miner's lung, coal miner's lungs, coal miners' asthma miners' lung pneumoconioses, coal worker's pneumoconioses, coalworker's pneumoconiosis coal pneumoconiosis, coal worker pneumoconiosis, coal worker's pneumoconiosis, coal workers pneumoconiosis, coalworker's pneumomelanosis pulmonary anthracosis |
| DOID | |
| ICD10 | |
| UMLS | C0003165 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0041296 | tuberculosis | 3 C0024205 | lymphadenitis | 2 C0018799 | heart disease | 2 C0041316 | tuberculous lymphadenitis | 2 C0034072 | pulmonary heart disease | 2 C0600260 | obstructive pulmonary disease | 1 C0024115 | pulmonary disease | 1 C0041327 | pulmonary tuberculosis | 1 C0684249 | lung carcinoma | 1 C0020542 | pulmonary hypertension | 1 C0020538 | hypertension | 1 C0024117 | chronic obstructive pulmonary disease | 1 C0242379 | lung cancer | 1 C0032285 | pneumonia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 10551 | AGR2 | 2.022 | DISEASES 22900 | CARD8 | 2.371 | DISEASES 1029 | CDKN2A | 1.288 | DISEASES 23405 | DICER1 | 1.128 | DISEASES 728441 | GGT2 | 2.095 | DISEASES 3115 | HLA-DPB1 | 1.484 | DISEASES 3303 | HSPA1A | 2.159 | DISEASES 3305 | HSPA1L | 2.523 | DISEASES 3316 | HSPB2 | 1.822 | DISEASES 4049 | LTA | 1.056 | DISEASES 4318 | MMP9 | 1.172 | DISEASES 727897 | MUC5B | 1.049 | DISEASES 93034 | NT5C1B | 2.756 | DISEASES 9260 | PDLIM7 | 1.867 | DISEASES 55124 | PIWIL2 | 3.187 | DISEASES 11186 | RASSF1 | 1.977 | DISEASES 6280 | S100A9 | 1.417 | DISEASES 6401 | SELE | 1.309 | DISEASES 5265 | SERPINA1 | 1.323 | DISEASES 6614 | SIGLEC1 | 2.331 | DISEASES 23583 | SMUG1 | 1.433 | DISEASES 6648 | SOD2 | 1.373 | DISEASES 7124 | TNF | 3.032 | DISEASES 8784 | TNFRSF18 | 1.788 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 619 |
|---|---|
| Disease | anthracosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000822 | Hypertension | 1 HP:0100721 | Mediastinal lymphadenopathy | 1 HP:0030731 | Carcinoma | 1 HP:0002840 | Lymphadenitis | 1 HP:0002202 | Pleural effusion | 1 HP:0002090 | Pneumonia | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0011675 | Arrhythmias | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0006510 | Chronic obstructive pulmonary disease | 1 |
| Disease ID | 619 |
|---|---|
| Disease | anthracosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0041327 | pulmonary tuberculosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11614913 | 19881472 | 574501 | MIR499A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs11614913 | 19881472 | 406938 | MIR146A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | MIR196A2 | 12 | 53991815 | C | T |
| rs1539019 | 23110140 | 114548 | NLRP3 | umls:C0003165 | BeFree | This is the first report showing an association between the NLRP3 rs1539019 polymorphism and CWP, and suggests that this polymorphism may confer increased risk for the development of the disease. | 0.000271442 | 2012 | NLRP3 | 1 | 247436999 | A | C |
| rs2292832 | 19881472 | 574501 | MIR499A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 19881472 | 406938 | MIR146A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2292832 | 19881472 | 406941 | MIR149 | umls:C0003165 | BeFree | These results suggest that miR-149 rs2292832 polymorphism is involved in susceptibility to developing CWP. | 0.000271442 | 2010 | GPC1;MIR149;PP14571 | 2 | 240456086 | T | C |
| rs2910164 | 19881472 | 574501 | MIR499A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 19881472 | 406938 | MIR146A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs3746444 | 19881472 | 574501 | MIR499A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
| rs3746444 | 19881472 | 406938 | MIR146A | umls:C0003165 | BeFree | In a case-control study of 496 CWP patients and 513 control subjects frequency matched by exposure years and work types, we genotyped four single-nucleotide polymorphisms (SNPs) (rs2910164, rs2292832, rs11614913 and rs3746444) in pre-miRNAs (miR-146a, miR-149, miR-196a2 and miR-499) and assessed the associations with risk of CWP. | 0.000271442 | 2010 | MYH7B;MIR499A;MIR499B | 20 | 34990448 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 619 |
|---|---|
| Disease | anthracosis |
| Case | (Waiting for update.) |