eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pleuropulmonary blastoma | ||||
| Disease ID | 1293 |
|---|---|
| Disease | pleuropulmonary blastoma |
| Definition | A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. [HPO:sdoelken] |
| Synonym | pleuro-pulmonary blastoma pleuropulmonary blastoma (disorder) pleuropulmonary blastoma (morphologic abnormality) ppb familial tumor and dysplasia syndrome ppbftds pulmonary blastoma of childhood |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1266144 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0018552 | hamartoma | 2 C0027708 | nephroma | 2 C0936282 | blastoma | 1 C0027819 | neuroblastoma | 1 C0085292 | stiff person syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 2 | A2M | 1.062 | DISEASES 23405 | DICER1 | 7.079 | DISEASES 2120 | ETV6 | 1.188 | DISEASES 2254 | FGF9 | 2.289 | DISEASES 2271 | FH | 1.717 | DISEASES 2314 | FLII | 2.18 | DISEASES 3662 | IRF4 | 1.393 | DISEASES 1316 | KLF6 | 1.919 | DISEASES 116372 | LYPD1 | 2.99 | DISEASES 4151 | MB | 1.593 | DISEASES 219541 | MED19 | 2.68 | DISEASES 4916 | NTRK3 | 1.483 | DISEASES 5079 | PAX5 | 1.188 | DISEASES 7849 | PAX8 | 1.182 | DISEASES 6654 | SOS1 | 1.611 | DISEASES 727837 | SSX2B | 1.683 | DISEASES 6996 | TDG | 2.424 | DISEASES 7490 | WT1 | 1.28 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1293 |
|---|---|
| Disease | pleuropulmonary blastoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0030071 | Medulloepithelioma | 3 HP:0010566 | Hamartoma | 2 HP:0003006 | Neuroblastoma | 1 HP:0002176 | Spinal cord compression | 1 HP:0002664 | Neoplasia | 1 |
| Disease ID | 1293 |
|---|---|
| Disease | pleuropulmonary blastoma |
| Manually Symptom | (Waiting for update.) |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852976 | NA | 23405 | DICER1 | umls:C1266144 | CLINVAR | NA | 0.486243163 | NA | DICER1 | 14 | 95096172 | A | C |
| rs137852977 | NA | 23405 | DICER1 | umls:C1266144 | CLINVAR | NA | 0.486243163 | NA | DICER1 | 14 | 95117624 | C | A |
| rs137852978 | NA | 23405 | DICER1 | umls:C1266144 | CLINVAR | NA | 0.486243163 | NA | DICER1 | 14 | 95106198 | G | A |
| rs137852979 | NA | 23405 | DICER1 | umls:C1266144 | CLINVAR | NA | 0.486243163 | NA | DICER1 | 14 | 95116575 | G | A |
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 | 1293 |
|---|---|
| Disease | pleuropulmonary blastoma |
| Case | (Waiting for update.) |