PedAM

Pediatric Disease Annotations & Medicines


	subependymal giant cell astrocytoma

Disease ID	751
Disease	subependymal giant cell astrocytoma
Definition	A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. [HPO:curators]
Synonym	[m]subependymal giant cell astrocytoma astrocytoma, subependymal giant cell sega sega - subependymal giant cell astrocytoma subependymal giant cell astrocytic neoplasm subependymal giant cell astrocytic tumor subependymal giant cell astrocytoma (disorder) subependymal giant cell astrocytoma (morphologic abnormality) subependymal giant-cell astrocytoma
Orphanet	ORPHANET:251618
DOID	DOID:5077
UMLS	C0205768
SNOMED-CT	SNOMEDCT_US_2016_09_01:449799008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0041341 \| tuberous sclerosis \| 44 C0041341 \| tuberous sclerosis complex \| 28 C0206633 \| angiomyolipoma \| 1 C0151740 \| raised intracranial pressure \| 1 C0014544 \| epilepsy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 28954 \| REM1 \| DISEASES 7249 \| TSC2 \| DISEASES 2026 \| ENO2 \| DISEASES 2729 \| GCLC \| DISEASES 4057 \| LTF \| DISEASES 4852 \| NPY \| DISEASES 5184 \| PEPD \| DISEASES 2670 \| GFAP \| DISEASES 53 \| ACP2 \| DISEASES 301 \| ANXA1 \| DISEASES 6442 \| SGCA \| DISEASES 6009 \| RHEB \| DISEASES 9368 \| SLC9A3R1 \| DISEASES 6855 \| SYP \| DISEASES 10000 \| AKT3 \| DISEASES 390 \| RND3 \| DISEASES 793 \| CALB1 \| DISEASES 7157 \| TP53 \| DISEASES 6282 \| S100A11 \| DISEASES 7248 \| TSC1 \| DISEASES 4884 \| NPTX1 \| DISEASES 2752 \| GLUL \| DISEASES 5426 \| POLE \| DISEASES 10215 \| OLIG2 \| DISEASES 1641 \| DCX \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 1809 \| DPYSL3 \| DISEASES 7080 \| NKX2-1 \| DISEASES 1996 \| ELAVL4 \| DISEASES 51150 \| SDF4 \| DISEASES 4133 \| MAP2 \| DISEASES 2475 \| MTOR \| DISEASES 388677 \| NOTCH2NL \| DISEASES 2058 \| EPRS \| DISEASES 10763 \| NES \| DISEASES 2173 \| FABP7 \| DISEASES 642489 \| FKBP1C \| DISEASES 51060 \| TXNDC12 \| DISEASES 10590 \| SCGN \| DISEASES 4897 \| NRCAM \| DISEASES 6194 \| RPS6 \| DISEASES 7053 \| TGM3 \| DISEASES 2280 \| FKBP1A \| DISEASES 10457 \| GPNMB \| DISEASES 4155 \| MBP \| DISEASES 146713 \| RBFOX3 \| DISEASES 3702 \| ITK \| DISEASES 284252 \| KCTD1 \| DISEASES 6424 \| SFRP4 \| DISEASES 6195 \| RPS6KA1 \| DISEASES 10381 \| TUBB3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	751
Disease	subependymal giant cell astrocytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0002664 \| Neoplasia \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0006772 \| Angiomyolipoma \| 1

Disease ID	751
Disease	subependymal giant cell astrocytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0700095 \| neuroblastoma C0041341 \| tuberous sclerosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0041341 \| tuberous sclerosis \| 44

Manually Genotype(Total Text Mining 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
rs113488022	25346165	673	BRAF	umls:C0205768	BeFree	BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas.	0.000271442	2014	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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