PedAM

Pediatric Disease Annotations & Medicines


	giant cell glioblastoma

Disease ID	1088
Disease	giant cell glioblastoma
Definition	A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)
Synonym	giant cell glioblastoma (morphologic abnormality) giant cell glioblastomas glioblastoma, giant cell glioblastomas, giant cell monstrocellular sarcoma [obs]
Orphanet	ORPHANET:251579
DOID	DOID:3074
UMLS	C0334588
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) TP53 \| 7157 \| ORPHANET FGFR1 \| 2260 \| ORPHANET IDH1 \| 3417 \| ORPHANET FGFR3 \| 2261 \| ORPHANET PPARG \| 5468 \| ORPHANET EGFR \| 1956 \| ORPHANET LZTR1 \| 8216 \| ORPHANET MGMT \| 4255 \| ORPHANET TACC3 \| 10460 \| ORPHANET NFKBIA \| 4792 \| ORPHANET TACC1 \| 6867 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:22) 2670 \| GFAP \| DISEASES 3417 \| IDH1 \| DISEASES 6855 \| SYP \| DISEASES 7157 \| TP53 \| DISEASES 6647 \| SOD1 \| DISEASES 1956 \| EGFR \| DISEASES 4915 \| NTRK2 \| DISEASES 701 \| BUB1B \| DISEASES 4255 \| MGMT \| DISEASES 699 \| BUB1 \| DISEASES 947 \| CD34 \| DISEASES 3418 \| IDH2 \| DISEASES 4763 \| NF1 \| DISEASES 9184 \| BUB3 \| DISEASES 5728 \| PTEN \| DISEASES 546 \| ATRX \| DISEASES 1896 \| EDA \| DISEASES 1029 \| CDKN2A \| DISEASES 4193 \| MDM2 \| DISEASES 4914 \| NTRK1 \| DISEASES 10381 \| TUBB3 \| DISEASES 9212 \| AURKB \| DISEASES
Locus	Symbol \| Locus(Total Locus:12) NFKBIA \| 14q13.2 SEPT14 \| 7p11.2 LZTR1 \| 22q11.21 EGFR \| 7p11.2 TP53 \| 17p13.1 FGFR3 \| 4p16.3 PPARG \| 3p25.2 TACC1 \| 8p11.22 MGMT \| 10q26.3 TACC3 \| 4p16.3 FGFR1 \| 8p11.23 IDH1 \| 2q34

Disease ID	1088
Disease	giant cell glioblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1088
Disease	giant cell glioblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1704231 \| leptomeningeal metastases
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25885250	673	BRAF	umls:C0334588	BeFree	The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma.	0.000542884	2015	BRAF	7	140753336	A	T,G,C
rs113488022	24345274	673	BRAF	umls:C0334588	BeFree	We further investigated the utility of combined BRAF V600E (VE1) and p16 analysis by immunohistochemistry to distinguish PXAs from relevant histological mimics like giant-cell glioblastoma.	0.000542884	2013	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.)

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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