eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

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	fibrillary astrocytoma

Disease ID	1813
Disease	fibrillary astrocytoma
Definition	The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)
Synonym	astrocytoma, fibrillary astrocytomas, fibrillary fibrillary astrocytoma (morphologic abnormality) fibrillary astrocytomas fibrous astrocytoma fibrous astrocytoma (morphologic abnormality)
Orphanet	ORPHANET:251601
DOID	DOID:6726
UMLS	C0334582
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3418 \| IDH2 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:57) 120 \| ADD3 \| 2.865 \| DISEASES 151 \| ADRA2B \| 1.99 \| DISEASES 347 \| APOD \| 1.367 \| DISEASES 546 \| ATRX \| 2.679 \| DISEASES 618 \| BCYRN1 \| 2.653 \| DISEASES 682 \| BSG \| 1.386 \| DISEASES 778 \| CACNA1F \| 1.46 \| DISEASES 961 \| CD47 \| 1.046 \| DISEASES 1029 \| CDKN2A \| 2.316 \| DISEASES 1063 \| CENPF \| 2.743 \| DISEASES 1284 \| COL4A2 \| 1.681 \| DISEASES 1291 \| COL6A1 \| 1.514 \| DISEASES 1755 \| DMBT1 \| 1.49 \| DISEASES 2173 \| FABP7 \| 1.765 \| DISEASES 9715 \| FAM131B \| 3.532 \| DISEASES 2199 \| FBLN2 \| 2.139 \| DISEASES 2596 \| GAP43 \| 1.919 \| DISEASES 2987 \| GUK1 \| 2.208 \| DISEASES 3020 \| H3F3A \| 2.538 \| DISEASES 3039 \| HBA1 \| 1.431 \| DISEASES 55355 \| HJURP \| 2.795 \| DISEASES 100133311 \| HOXA-AS3 \| 4.044 \| DISEASES 3418 \| IDH2 \| 3.914 \| DISEASES 57670 \| KIAA1549 \| 3.93 \| DISEASES 4133 \| MAP2 \| 1.76 \| DISEASES 27030 \| MLH3 \| 1.797 \| DISEASES 10608 \| MXD4 \| 2.527 \| DISEASES 4602 \| MYB \| 1.771 \| DISEASES 4603 \| MYBL1 \| 2.262 \| DISEASES 23040 \| MYT1L \| 2.488 \| DISEASES 10763 \| NES \| 1.7 \| DISEASES 4763 \| NF1 \| 1.512 \| DISEASES 388677 \| NOTCH2NL \| 2.503 \| DISEASES 10215 \| OLIG2 \| 1.152 \| DISEASES 8682 \| PEA15 \| 1.852 \| DISEASES 8605 \| PLA2G4C \| 2.736 \| DISEASES 5420 \| PODXL \| 1.278 \| DISEASES 5728 \| PTEN \| 1.982 \| DISEASES 5764 \| PTN \| 1.983 \| DISEASES 9444 \| QKI \| 2.092 \| DISEASES 5910 \| RAP1GDS1 \| 2.585 \| DISEASES 146713 \| RBFOX3 \| 1.392 \| DISEASES 23186 \| RCOR1 \| 2.177 \| DISEASES 253260 \| RICTOR \| 1.154 \| DISEASES 9699 \| RIMS2 \| 2.737 \| DISEASES 6091 \| ROBO1 \| 2.496 \| DISEASES 6125 \| RPL5 \| 1.933 \| DISEASES 404552 \| SCGB1D4 \| 1.472 \| DISEASES 10590 \| SCGN \| 2.32 \| DISEASES 83482 \| SCRT1 \| 1.63 \| DISEASES 5270 \| SERPINE2 \| 1.344 \| DISEASES 9353 \| SLIT2 \| 2.508 \| DISEASES 6586 \| SLIT3 \| 2.375 \| DISEASES 7153 \| TOP2A \| 1.602 \| DISEASES 7155 \| TOP2B \| 1.211 \| DISEASES 7156 \| TOP3A \| 1.274 \| DISEASES 8848 \| TSC22D1 \| 2.309 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) IDH2 \| 15q26.1

Disease ID	1813
Disease	fibrillary astrocytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1813
Disease	fibrillary astrocytoma
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
rs113488022	24767714	7157	TP53	umls:C0334582	BeFree	A BRAF p.Thr599dup or p.V600E mutation was identified by Sanger sequencing in one and five gliomas, respectively, and a somatic TP53 mutation was identified in a fibrillary astrocytoma.	0.001357209	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.)

Disease ID	1813
Disease	fibrillary astrocytoma
Case	(Waiting for update.)

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