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	peripheral primitive neuroectodermal tumor

Disease ID	1146
Disease	peripheral primitive neuroectodermal tumor
Definition	A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA.
Synonym	(ppnet) peripheral primitive neuroectodermal tumors ewing sarcoma / peripheral neuroectodermal tumor ewing sarcoma / peripheral neuroectodermal tumor (morphologic abnormality) ewing sarcoma / peripheral neuroectodermal tumour ewing sarcoma / pnet ewing tumor of bone ewing's sarcoma/primitive neuroectodermal tumor (pnet) ewings sarcoma-primitive neuroectodermal tumor (pnet) extracranial primitive neuroectodermal tumor neuroectodermal neopl peripheral primitive neuroectodermal neoplasm, peripheral primitive neuroectodermal tumor, peripheral neuroectodermal tumor, peripheral primitive neuroectodermal tumors, peripheral neuroectodermal tumors, primitive, peripheral neuroectodermal tumors, primitive, peripheral [disease/finding] neuroepithelioma, peripheral neuroepitheliomas, peripheral peripheral neuroectodermal neoplasm peripheral neuroectodermal tumor peripheral neuroectodermal tumor (disorder) peripheral neuroectodermal tumor (morphologic abnormality) peripheral neuroectodermal tumor (pnet) peripheral neuroectodermal tumors peripheral neuroectodermal tumour peripheral neuroepithelioma peripheral neuroepitheliomas peripheral pnet peripheral primitive neuroectodermal neopl peripheral primitive neuroectodermal neoplasm peripheral primitive neuroectodermal tumors peripheral primitive neuroectodermal tumour ppnet primitive neuroectodermal tumor, extracranial primitive neuroectodermal tumor, peripheral primitive peripheral neuroectodermal tumor tumor, peripheral neuroectodermal tumors, peripheral neuroectodermal
Orphanet	ORPHANET:370348
DOID	DOID:3369
UMLS	C0684337
MeSH	D018241
SNOMED-CT	SNOMEDCT_US_2016_09_01:253096008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C1261473 \| sarcoma \| 2
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3815 \| KIT \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) FLI1 \| 11q24.3 ERG \| 21q22.2

Disease ID	1146
Disease	peripheral primitive neuroectodermal tumor
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0100242 \| Sarcoma \| 2 HP:0200034 \| Papule \| 1 HP:0002664 \| Neoplasia \| 1

Disease ID	1146
Disease	peripheral primitive neuroectodermal tumor
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:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs293795	22389292	4968	OGG1	umls:C0684337	BeFree	However, after correcting for multiple comparisons, only the interaction between high trichloroethylene levels and OGG1 rs293795 significantly increased the risk of childhood M/PNET risk (OR = 9.24, 95% CI: 2.24, 38.24, Q = 0.04).	0.000271442	2012	OGG1;CAMK1	3	9757429	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:12)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	11032827	rs2003046	C	A	rs2003046	22327514	9.60E-07	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	C	C1orf127
1	11037736	rs11576658	C	T	rs11576658	22327514	9.20E-08	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	C	C1orf127
1	11046855	rs9430161	G	T	rs9430161	22327514	1.00E-20	NA	2.2	[1.77-2.72]	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	rs9430161-G	Research Support, Non-U.S. Gov't	T	NA
10	64552607	rs1509966	G	A	rs1509966	22327514	1.30E-05	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	G	NA
10	64552934	rs1848797	A	G	rs1848797	22327514	2.10E-05	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	A	NA
10	64580575	rs224278	C	T	rs224278	22327514	4.00E-17	NA	1.66	[1.42-1.93]	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	rs224278-C	Research Support, Non-U.S. Gov't	C	EGR2
10	64588424	rs224292	G	A	rs224292	22327514	8.60E-06	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	G	NA
10	64647504	rs9633562	A	C	rs9633562	22327514	2.00E-06	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	A	NA
10	64676376	rs944684	C	T	rs944684	22327514	8.00E-07	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	T	NA
10	64745865	rs6479860	C	T	rs6479860	22327514	1.10E-05	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	T	NA
15	40338861	rs8026641	G	A	rs8026641	22327514	3.90E-09	NA	NA	NA	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	NA	Research Support, Non-U.S. Gov't	A	LOC100131089
15	40339494	rs4924410	A	C	rs4924410	22327514	7.00E-09	NA	1.46	[1.23-1.74]	Up to 427 European ancestry cases; up to 4,352 European ancestry controls	European(4779)	ALL(4779)	EUR(4779)	ALL(4779)	Ewing sarcoma	HPOID:0012254	Ewing's sarcoma	DOID:3369	peripheral primitive neuroectodermal tumor	D012512	Sarcoma, Ewing	EFOID:0000174	ewing sarcoma	Ewings sarcoma	rs4924410-A	Research Support, Non-U.S. Gov't	C	LOC100131089

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1146
Disease	peripheral primitive neuroectodermal tumor
Case	(Waiting for update.)

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