PedAM

Pediatric Disease Annotations & Medicines


	tumor predisposition syndrome

Disease ID	1939
Disease	tumor predisposition syndrome
Synonym	tpds
OMIM	OMIM:614327
UMLS	C3280492
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0936282 \| blastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) BAP1 \| 8314 \| CLINVAR;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1939
Disease	tumor predisposition syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002664 \| Neoplasia \| 1 HP:0100528 \| Pleuropulmonary blastoma \| 1

Disease ID	1939
Disease	tumor predisposition syndrome
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:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs375129361	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52408056	T	A,C
rs387906848	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52402608	G	A
rs387906849	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52405897	G	A
rs397509413	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1;PHF7	3	52409597	CC	-
rs397509414	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52403491	C	-
rs587776877	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52403840	C	-
rs587776878	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52402423	T	C
rs587776879	NA	8314	BAP1	umls:C3280492	CLINVAR	NA	0.240542884	NA	BAP1	3	52407318	T	C

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.)

Web
Analytics