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	pilocytic astrocytoma

Disease ID	717
Disease	pilocytic astrocytoma
Definition	A WHO grade I, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO)
Synonym	astrocytoma pilocytic astrocytoma, benign astrocytoma, pilocytic astrocytoma, pilocytic, benign astrocytomas, pilocytic grade i astrocytic neoplasm grade i astrocytic tumor grade i astrocytoma pilocytic astrocytoma (morphologic abnormality) pilocytic astrocytoma -retired- pilocytic astrocytoma [dup] (morphologic abnormality) pilocytic astrocytomas piloid astrocytoma piloid astrocytoma (morphologic abnormality)
Orphanet	ORPHANET:251612
DOID	DOID:4851
UMLS	C0334583
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0028945 \| oligodendroglioma \| 2 C0017636 \| glioblastomas \| 2 C0025149 \| medulloblastoma \| 1 C0206734 \| hemangioblastoma \| 1 C0020255 \| hydrocephalus \| 1 C0334579 \| anaplastic astrocytomas \| 1 C0017636 \| glioblastoma \| 1 C0151740 \| increased intracranial pressure \| 1 C0003857 \| arteriovenous malformation \| 1 C0014544 \| epilepsy \| 1 C0206716 \| gangliogliomas \| 1 C1266177 \| dysembryoplastic neuroepithelial tumor \| 1 C0023787 \| lipodystrophy \| 1 C0004352 \| autism \| 1 C1266119 \| solitary fibrous tumor \| 1 C0004114 \| astrocytomas \| 1 C0025149 \| medulloblastomas \| 1 C0549423 \| obstructive hydrocephalus \| 1 C0334579 \| anaplastic astrocytoma \| 1 C0221032 \| generalized lipodystrophy \| 1 C1096063 \| intractable epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 2260 \| FGFR1 \| ORPHANET 673 \| BRAF \| ORPHANET 5894 \| RAF1 \| ORPHANET 3845 \| KRAS \| CLINVAR;ORPHANET 9901 \| SRGAP3 \| ORPHANET 4915 \| NTRK2 \| ORPHANET 57670 \| KIAA1549 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4763 \| NF1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:79) 10840 \| ALDH1L1 \| 2.062 \| DISEASES 347 \| APOD \| 2.135 \| DISEASES 171023 \| ASXL1 \| 1.65 \| DISEASES 546 \| ATRX \| 2.73 \| DISEASES 605 \| BCL7A \| 2.426 \| DISEASES 54880 \| BCOR \| 2.162 \| DISEASES 682 \| BSG \| 1.151 \| DISEASES 10203 \| CALCRL \| 1.25 \| DISEASES 1029 \| CDKN2A \| 3.097 \| DISEASES 3075 \| CFH \| 1.418 \| DISEASES 1272 \| CNTN1 \| 1.702 \| DISEASES 1291 \| COL6A1 \| 1.28 \| DISEASES 9244 \| CRLF1 \| 1.012 \| DISEASES 9696 \| CROCC \| 2.97 \| DISEASES 10106 \| CTDSP2 \| 2.18 \| DISEASES 9547 \| CXCL14 \| 1.01 \| DISEASES 10540 \| DCTN2 \| 2.521 \| DISEASES 1654 \| DDX3X \| 1.392 \| DISEASES 51428 \| DDX41 \| 1.16 \| DISEASES 1755 \| DMBT1 \| 1.256 \| DISEASES 81704 \| DOCK8 \| 1.315 \| DISEASES 1915 \| EEF1A1 \| 1.093 \| DISEASES 23136 \| EPB41L3 \| 2.374 \| DISEASES 2173 \| FABP7 \| 1.531 \| DISEASES 9715 \| FAM131B \| 4.875 \| DISEASES 2199 \| FBLN2 \| 1.905 \| DISEASES 2260 \| FGFR1 \| 3.053 \| DISEASES 2331 \| FMOD \| 1.306 \| DISEASES 8880 \| FUBP1 \| 3.889 \| DISEASES 2969 \| GTF2I \| 1.811 \| DISEASES 3020 \| H3F3A \| 4.014 \| DISEASES 23462 \| HEY1 \| 1.088 \| DISEASES 23493 \| HEY2 \| 1.323 \| DISEASES 28996 \| HIPK2 \| 2.501 \| DISEASES 3113 \| HLA-DPA1 \| 1.707 \| DISEASES 3326 \| HSP90AB1 \| 1.323 \| DISEASES 3418 \| IDH2 \| 3.602 \| DISEASES 3434 \| IFIT1 \| 1.416 \| DISEASES 57670 \| KIAA1549 \| 6.564 \| DISEASES 3831 \| KLC1 \| 2.664 \| DISEASES 9355 \| LHX2 \| 2.013 \| DISEASES 5609 \| MAP2K7 \| 2.068 \| DISEASES 4147 \| MATN2 \| 3.264 \| DISEASES 4603 \| MYBL1 \| 1.939 \| DISEASES 4763 \| NF1 \| 5.122 \| DISEASES 4771 \| NF2 \| 2.929 \| DISEASES 4774 \| NFIA \| 1.994 \| DISEASES 4781 \| NFIB \| 1.493 \| DISEASES 4782 \| NFIC \| 2.107 \| DISEASES 7101 \| NR2E1 \| 1.691 \| DISEASES 50863 \| NTM \| 2.35 \| DISEASES 116448 \| OLIG1 \| 1.821 \| DISEASES 10215 \| OLIG2 \| 3.362 \| DISEASES 4978 \| OPCML \| 1.784 \| DISEASES 5090 \| PBX3 \| 1.916 \| DISEASES 58473 \| PLEKHB1 \| 2.19 \| DISEASES 5728 \| PTEN \| 2.692 \| DISEASES 5781 \| PTPN11 \| 2.192 \| DISEASES 5787 \| PTPRB \| 1.764 \| DISEASES 9444 \| QKI \| 2.815 \| DISEASES 401409 \| RAB19 \| 3.571 \| DISEASES 117177 \| RAB3IP \| 2.694 \| DISEASES 5906 \| RAP1A \| 1.209 \| DISEASES 146713 \| RBFOX3 \| 1.158 \| DISEASES 6091 \| ROBO1 \| 1.305 \| DISEASES 22904 \| SBNO2 \| 3.081 \| DISEASES 10590 \| SCGN \| 2.086 \| DISEASES 83482 \| SCRT1 \| 1.395 \| DISEASES 6456 \| SH3GL2 \| 2.185 \| DISEASES 4990 \| SIX6 \| 1.47 \| DISEASES 9353 \| SLIT2 \| 1.317 \| DISEASES 6586 \| SLIT3 \| 1.184 \| DISEASES 6663 \| SOX10 \| 2.543 \| DISEASES 55553 \| SOX6 \| 1.642 \| DISEASES 9901 \| SRGAP3 \| 2.474 \| DISEASES 51684 \| SUFU \| 1.152 \| DISEASES 7280 \| TUBB2A \| 1.881 \| DISEASES 7422 \| VEGFA \| 1.328 \| DISEASES 26137 \| ZBTB20 \| 1.82 \| DISEASES
Locus	Symbol \| Locus(Total Locus:7) KRAS \| 12p12.1 NTRK2 \| 9q21.33 KIAA1549 \| 7q34 RAF1 \| 3p25.2 SRGAP3 \| 3p25.3 BRAF \| 7q34 FGFR1 \| 8p11.23

Disease ID	717
Disease	pilocytic astrocytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002664 \| Neoplasia \| 9 HP:0007115 \| Orbital encephalocele \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0012721 \| Venous malformations \| 1 HP:0009733 \| Glioma \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0002084 \| Bifid skull \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0009713 \| Spinal hemangioblastoma \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0010797 \| Hemangioblastoma \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0000717 \| Autism \| 1 HP:0009064 \| Generalized lipodystrophy \| 1 HP:0009125 \| Lipodystrophy \| 1

Disease ID	717
Disease	pilocytic astrocytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2613439 \| extramedullary hematopoiesis C1963137 \| hydrocephalus C1608408 \| malignant transformation C0221505 \| brain lesions C0155288 \| papilledema C0002793 \| anaplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0002793 \| anaplasia \| 1 C0020255 \| hydrocephalus \| 1 C0019080 \| hemorrhage \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	23439714	673	BRAF	umls:C0334583	BeFree	Activating point mutations of BRAF, such as BRAF (V600E), also lead to pilocytic astrocytoma.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23442159	673	BRAF	umls:C0334583	BeFree	Neither CD34 expression nor BRAF(V600E) status was predictive of prognosis, except for PA tumors where CD34 expression was associated with a shorter overall survival.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24532263	673	BRAF	umls:C0334583	BeFree	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.	0.133572094	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24532263	3417	IDH1	umls:C0334583	BeFree	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.	0.002171535	2014	BRAF	7	140753336	A	T,G,C
rs113488022	23196000	1029	CDKN2A	umls:C0334583	BeFree	Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF V600E mutation and p16 loss.	0.001900093	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23082883	673	BRAF	umls:C0334583	BeFree	Different types of aberrations of the BRAF gene in the classic and oligodendroglioma-like component in the recurrent pilocytic astrocytoma suggest that they had different cell origins or that amplification of BRAF was negatively selected under the de novo BRAF V600E mutation.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23196000	673	BRAF	umls:C0334583	BeFree	Adult with cerebellar anaplastic pilocytic astrocytoma associated with BRAF V600E mutation and p16 loss.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24057326	673	BRAF	umls:C0334583	BeFree	A single BRAF V600E mutation was identified in the fusion-negative extracerebellar PA of a very young child who succumbed to the disease.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24532263	3418	IDH2	umls:C0334583	BeFree	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.	0.000542884	2014	BRAF	7	140753336	A	T,G,C
rs113488022	21274720	673	BRAF	umls:C0334583	BeFree	The high mutation frequencies in pleomorphic xanthoastrocytomas, gangliogliomas and extra-cerebellar pilocytic astrocytomas implicate BRAF (V600E) mutation as a valuable diagnostic marker for these rare tumor entities.	0.133572094	2011	BRAF	7	140753336	A	T,G,C
rs113488022	24238153	673	BRAF	umls:C0334583	BeFree	BRAF(V600E) was also seen in five of 11 (45%) non-brainstem GGs and one of eight (13%) brainstem PAs.	0.133572094	2013	BRAF	7	140753336	A	T,G,C
rs113488022	21884820	57670	KIAA1549	umls:C0334583	BeFree	The data further support previous observations that these two alterations of the BRAF, KIAA1549 fusions and V600E point mutations, are associated primarily with pilocytic astrocytomas and nonpilocytic gliomas, respectively.	0.125700279	2011	BRAF	7	140753336	A	T,G,C
rs113488022	24532263	57670	KIAA1549	umls:C0334583	BeFree	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients.	0.125700279	2014	BRAF	7	140753336	A	T,G,C
rs113488022	23160425	673	BRAF	umls:C0334583	BeFree	Recent developments in v-raf murine sarcoma viral oncogene homolog B1 (BRAF)(V600E)-specific small molecule inhibitors and their clinical approval for other cancer types could turn BRAF(V600E) into a promising molecular predictor of outcome in pilocytic astrocytomas, given a treatment with a mutation-specific BRAF inhibitor is applied.	0.133572094	2012	BRAF	7	140753336	A	T,G,C
rs113488022	21190184	2048	EPHB2	umls:C0334583	BeFree	For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA.	0.001085767	2011	BRAF	7	140753336	A	T,G,C
rs113488022	21190184	5594	MAPK1	umls:C0334583	BeFree	For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA.	0.001085767	2011	BRAF	7	140753336	A	T,G,C
rs113488022	21884820	673	BRAF	umls:C0334583	BeFree	The data further support previous observations that these two alterations of the BRAF, KIAA1549 fusions and V600E point mutations, are associated primarily with pilocytic astrocytomas and nonpilocytic gliomas, respectively.	0.133572094	2011	BRAF	7	140753336	A	T,G,C
rs113488022	23442159	947	CD34	umls:C0334583	BeFree	Neither CD34 expression nor BRAF(V600E) status was predictive of prognosis, except for PA tumors where CD34 expression was associated with a shorter overall survival.	0.000271442	2013	BRAF	7	140753336	A	T,G,C
rs121913500	23934769	3417	IDH1	umls:C0334583	BeFree	Our results indicate the usefulness of assessing the R132H IDH1 mutation in glioma patients: the presence or absence of the R132H mutation can help pathologists to distinguish pilocytic astrocytomas (IDH1 WT) from diffuse ones (R132H IDH1/WT).	0.002171535	2014	IDH1	2	208248388	C	T
rs121913535	NA	3845	KRAS	umls:C0334583	CLINVAR	NA	0.240542884	NA	KRAS	12	25245348	C	T,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	717
Disease	pilocytic astrocytoma
Case	(Waiting for update.)