PedAM

Pediatric Disease Annotations & Medicines


	pleuropulmonary blastoma

Disease ID	769
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	ORPHANET:64742
OMIM	OMIM:601200
DOID	DOID:4769
UMLS	C1266144
SNOMED-CT	SNOMEDCT_US_2016_09_01:707670009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0018552 \| hamartoma \| 2 C0027708 \| nephroma \| 2 C0085292 \| stiff person syndrome \| 1 C0027819 \| neuroblastoma \| 1 C0936282 \| blastoma \| 1 C0023601 \| leydig cell tumour \| 1 C0206723 \| sertoli-leydig cell tumour \| 1 C0018021 \| goiter \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) DICER1 \| 23405 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:37) 4656 \| MYOG \| DISEASES 4654 \| MYOD1 \| DISEASES 4069 \| LYZ \| DISEASES 10021 \| HCN4 \| DISEASES 7528 \| YY1 \| DISEASES 2255 \| FGF10 \| DISEASES 8626 \| TP63 \| DISEASES 57510 \| XPO5 \| DISEASES 25824 \| PRDX5 \| DISEASES 6895 \| TARBP2 \| DISEASES 7157 \| TP53 \| DISEASES 9965 \| FGF19 \| DISEASES 7047 \| TGM4 \| DISEASES 6469 \| SHH \| DISEASES 794 \| CALB2 \| DISEASES 2752 \| GLUL \| DISEASES 3265 \| HRAS \| DISEASES 6578 \| SLCO2A1 \| DISEASES 4684 \| NCAM1 \| DISEASES 2 \| A2M \| DISEASES 2314 \| FLII \| DISEASES 7490 \| WT1 \| DISEASES 219541 \| MED19 \| DISEASES 23405 \| DICER1 \| DISEASES 5079 \| PAX5 \| DISEASES 4151 \| MB \| DISEASES 4916 \| NTRK3 \| DISEASES 2271 \| FH \| DISEASES 727837 \| SSX2B \| DISEASES 3662 \| IRF4 \| DISEASES 2254 \| FGF9 \| DISEASES 6996 \| TDG \| DISEASES 2120 \| ETV6 \| DISEASES 116372 \| LYPD1 \| DISEASES 6654 \| SOS1 \| DISEASES 7849 \| PAX8 \| DISEASES 1316 \| KLF6 \| DISEASES
Locus	(Waiting for update.)

Disease ID	769
Disease	pleuropulmonary blastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0030071 \| Medulloepithelioma \| 3 HP:0010566 \| Hamartoma \| 2 HP:0002664 \| Neoplasia \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0002176 \| Spinal cord compression \| 1 HP:0000853 \| Goitre \| 1

Disease ID	769
Disease	pleuropulmonary blastoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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