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	ganglioglioma

Disease ID	1195
Disease	ganglioglioma
Definition	Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord.
Synonym	ganglioglioma (disorder) ganglioglioma (morphologic abnormality) ganglioglioma [disease/finding] ganglioglioma, no icd-o subtype ganglioglioma, no icd-o subtype (morphologic abnormality) ganglioglioma, no international classification of diseases for oncology subtype ganglioglioma, no international classification of diseases for oncology subtype (morphologic abnormality) gangliogliomas glioneuroma neuroastrocytoma
Orphanet	ORPHANET:251949
DOID	DOID:5078
UMLS	C0206716
MeSH	D018303
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0014544 \| epilepsy \| 4 C0334590 \| anaplastic oligodendroglioma \| 2 C0011847 \| diabetes \| 2 C0011848 \| diabetes insipidus \| 2 C0028945 \| oligodendroglioma \| 2 C1096063 \| intractable epilepsy \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0014544 \| epileptic seizure \| 1 C1621958 \| glioblastoma multiforme \| 1 C0017636 \| glioblastoma \| 1 C0018916 \| angioma \| 1 C0004114 \| astrocytomas \| 1 C1959589 \| cavernous angioma \| 1 C0028945 \| oligodendrogliomas \| 1 C0085113 \| neurofibromatosis \| 1 C0334583 \| pilocytic astrocytomas \| 1 C0022735 \| hypogonadotropic hypogonadism \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:57) 9048 \| ARTN \| 1.797 \| DISEASES 546 \| ATRX \| 2.702 \| DISEASES 8537 \| BCAS1 \| 2.54 \| DISEASES 79656 \| BEND5 \| 3.341 \| DISEASES 664 \| BNIP3 \| 1.032 \| DISEASES 801 \| CALM1 \| 1.009 \| DISEASES 831 \| CAST \| 1.26 \| DISEASES 50489 \| CD207 \| 1.279 \| DISEASES 1029 \| CDKN2A \| 1.654 \| DISEASES 1325 \| CORT \| 1.159 \| DISEASES 10800 \| CYSLTR1 \| 1.147 \| DISEASES 1621 \| DBH \| 1.196 \| DISEASES 51428 \| DDX41 \| 1.83 \| DISEASES 79813 \| EHMT1 \| 2.019 \| DISEASES 346007 \| EYS \| 2 \| DISEASES 9715 \| FAM131B \| 3.579 \| DISEASES 8880 \| FUBP1 \| 3.212 \| DISEASES 2535 \| FZD2 \| 1.893 \| DISEASES 2673 \| GFPT1 \| 1.013 \| DISEASES 2687 \| GGT5 \| 2.688 \| DISEASES 2736 \| GLI2 \| 1.021 \| DISEASES 2764 \| GMFB \| 1.939 \| DISEASES 2902 \| GRIN1 \| 1.228 \| DISEASES 3020 \| H3F3A \| 4.071 \| DISEASES 3418 \| IDH2 \| 1.463 \| DISEASES 102723508 \| KANTR \| 1.473 \| DISEASES 3751 \| KCND2 \| 1.671 \| DISEASES 57670 \| KIAA1549 \| 3.976 \| DISEASES 4133 \| MAP2 \| 3.536 \| DISEASES 9961 \| MVP \| 1.477 \| DISEASES 8260 \| NAA10 \| 1.681 \| DISEASES 23413 \| NCS1 \| 1.923 \| DISEASES 4753 \| NELL2 \| 2.609 \| DISEASES 10763 \| NES \| 2.591 \| DISEASES 4763 \| NF1 \| 3.036 \| DISEASES 4771 \| NF2 \| 2.113 \| DISEASES 4821 \| NKX2-2 \| 1.611 \| DISEASES 2649 \| NR6A1 \| 1.781 \| DISEASES 64324 \| NSD1 \| 1.452 \| DISEASES 4914 \| NTRK1 \| 1.903 \| DISEASES 10215 \| OLIG2 \| 2.626 \| DISEASES 136541 \| PRSS58 \| 1.681 \| DISEASES 5725 \| PTBP1 \| 1.456 \| DISEASES 5728 \| PTEN \| 2.53 \| DISEASES 9444 \| QKI \| 3.184 \| DISEASES 146713 \| RBFOX3 \| 2.373 \| DISEASES 5649 \| RELN \| 1.993 \| DISEASES 6194 \| RPS6 \| 1.101 \| DISEASES 6195 \| RPS6KA1 \| 1.014 \| DISEASES 57468 \| SLC12A5 \| 1.609 \| DISEASES 23583 \| SMUG1 \| 2.176 \| DISEASES 6794 \| STK11 \| 1.325 \| DISEASES 9900 \| SV2A \| 1.498 \| DISEASES 6898 \| TAT \| 1.233 \| DISEASES 6904 \| TBCD \| 2.545 \| DISEASES 54664 \| TMEM106B \| 2.047 \| DISEASES 10381 \| TUBB3 \| 1.15 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1195
Disease	ganglioglioma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0002664 \| Neoplasia \| 4 HP:0001250 \| Seizures \| 2 HP:0040184 \| Oral hemorrhage \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0007332 \| Hemifacial seizures \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0012174 \| Glioblastoma multiforme \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0030692 \| Brain tumor \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001048 \| Cavernous angioma \| 1

Disease ID	1195
Disease	ganglioglioma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1608408 \| malignant transformation C1096063 \| intractable epilepsy C0270844 \| tonic seizures C0036572 \| seizures
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C1608408 \| malignant transformation \| 1 C1096063 \| intractable epilepsy \| 1 C0036572 \| seizures \| 1

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

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25015869	673	BRAF	umls:C0206716	BeFree	Massive dissemination from spinal cord gangliogliomas negative for BRAF V600E: report of two rare adult cases.	0.002985861	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24792487	673	BRAF	umls:C0206716	BeFree	Pediatric posterior fossa ganglioglioma: unique MRI features and correlation with BRAF V600E mutation status.	0.002985861	2014	BRAF	7	140753336	A	T,G,C
rs113488022	21274720	673	BRAF	umls:C0206716	BeFree	The highest frequencies of BRAF (V600E) mutations were found in WHO grade II pleomorphic xanthoastrocytomas (42/64; 66%) and pleomorphic xanthoastrocytomas with anaplasia (15/23; 65%), as well as WHO grade I gangliogliomas (14/77; 18%), WHO grade III anaplastic gangliogliomas (3/6) and pilocytic astrocytomas (9/97; 9%).	0.002985861	2011	BRAF	7	140753336	A	T,G,C
rs113488022	23442159	947	CD34	umls:C0206716	BeFree	In conclusion, DNT shared with PXA and GG, BRAF(V600E) mutation and/or CD34 expression, which represent molecular markers for these tumors, and we recommend searching for CD34 expression and BRAF(V600E) mutation in all DNT, especially the non-specific forms.	0.001085767	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23822828	673	BRAF	umls:C0206716	BeFree	BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma.	0.002985861	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23442159	673	BRAF	umls:C0206716	BeFree	Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression.	0.002985861	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24238153	673	BRAF	umls:C0206716	BeFree	Pediatric brainstem gangliogliomas show BRAF(V600E) mutation in a high percentage of cases.	0.002985861	2013	BRAF	7	140753336	A	T,G,C
rs113488022	23435618	673	BRAF	umls:C0206716	BeFree	Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells.	0.002985861	2013	BRAF	7	140753336	A	T,G,C
rs113488022	25937573	673	BRAF	umls:C0206716	BeFree	BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas.	0.002985861	2015	BRAF	7	140753336	A	T,G,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.)

Disease ID	1195
Disease	ganglioglioma
Case	(Waiting for update.)

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