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	anaplastic astrocytoma

Disease ID	1180
Disease	anaplastic astrocytoma
Definition	Anaplastic astrocytoma in which there is insufficient information on the IDH genes status.
Synonym	anaplastic astrocytoma, nos anaplastic astrocytoma, not otherwise specified anaplastic astrocytomas astrocytoma grade iii astrocytoma, anaplastic astrocytoma, anaplastic (morphologic abnormality) astrocytoma, anaplastic, malignant astrocytoma, grade iii astrocytomas, anaplastic astrocytomas, grade iii grade iii astrocytic neoplasm grade iii astrocytic tumor grade iii astrocytoma grade iii astrocytomas high-grade astrocytoma, nos malignant astrocytoma
Orphanet	ORPHANET:251589
DOID	DOID:3078
UMLS	C0334579
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0017636 \| glioblastomas \| 2 C0017636 \| glioblastoma \| 1 C0555198 \| malignant gliomas \| 1 C0004114 \| astrocytomas \| 1 C0024454 \| maffucci syndrome \| 1 C0019348 \| herpes simplex \| 1 C1527390 \| intracranial tumor \| 1 C0334583 \| pilocytic astrocytomas \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0555198 \| malignant glioma \| 1 C0006625 \| cachexia \| 1 C0278876 \| adult medulloblastoma \| 1 C0004114 \| astrocytoma \| 1 C0025149 \| medulloblastoma \| 1 C0334583 \| pilocytic astrocytoma \| 1 C1527390 \| intracranial tumors \| 1 C0085113 \| neurofibromatosis \| 1 C0087086 \| thrombi \| 1
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:96) 20 \| ABCA2 \| 1.504 \| DISEASES 120 \| ADD3 \| 2.166 \| DISEASES 51074 \| APIP \| 2.219 \| DISEASES 347 \| APOD \| 1.67 \| DISEASES 54840 \| APTX \| 1.812 \| DISEASES 546 \| ATRX \| 2.283 \| DISEASES 618 \| BCYRN1 \| 1.954 \| DISEASES 622 \| BDH1 \| 1.844 \| DISEASES 682 \| BSG \| 2.646 \| DISEASES 778 \| CACNA1F \| 2.219 \| DISEASES 137196 \| CCDC26 \| 1.677 \| DISEASES 912 \| CD1D \| 1.401 \| DISEASES 961 \| CD47 \| 1.834 \| DISEASES 1029 \| CDKN2A \| 3.219 \| DISEASES 1063 \| CENPF \| 1.042 \| DISEASES 387119 \| CEP85L \| 2.516 \| DISEASES 1351 \| COX8A \| 1.091 \| DISEASES 10106 \| CTDSP2 \| 1.715 \| DISEASES 1508 \| CTSB \| 1.267 \| DISEASES 9820 \| CUL7 \| 1.683 \| DISEASES 10540 \| DCTN2 \| 2.056 \| DISEASES 1741 \| DLG3 \| 1.238 \| DISEASES 1755 \| DMBT1 \| 2.339 \| DISEASES 3301 \| DNAJA1 \| 1.195 \| DISEASES 1826 \| DSCAM \| 1.4 \| DISEASES 1854 \| DUT \| 1.243 \| DISEASES 79813 \| EHMT1 \| 1.184 \| DISEASES 1969 \| EPHA2 \| 1.89 \| DISEASES 2118 \| ETV4 \| 1.418 \| DISEASES 2170 \| FABP3 \| 1.164 \| DISEASES 2173 \| FABP7 \| 1.066 \| DISEASES 11170 \| FAM107A \| 2.031 \| DISEASES 257415 \| FAM133B \| 2.955 \| DISEASES 2199 \| FBLN2 \| 1.44 \| DISEASES 2263 \| FGFR2 \| 1.075 \| DISEASES 388698 \| FLG2 \| 1.287 \| DISEASES 8880 \| FUBP1 \| 1.51 \| DISEASES 2778 \| GNAS \| 1.542 \| DISEASES 54584 \| GNB1L \| 1.352 \| DISEASES 2950 \| GSTP1 \| 1.228 \| DISEASES 2987 \| GUK1 \| 1.509 \| DISEASES 3020 \| H3F3A \| 3.095 \| DISEASES 3039 \| HBA1 \| 1.285 \| DISEASES 8350 \| HIST1H3A \| 1.621 \| DISEASES 8352 \| HIST1H3C \| 1.407 \| DISEASES 8351 \| HIST1H3D \| 1.621 \| DISEASES 8353 \| HIST1H3E \| 1.413 \| DISEASES 8968 \| HIST1H3F \| 1.621 \| DISEASES 8355 \| HIST1H3G \| 1.621 \| DISEASES 8357 \| HIST1H3H \| 1.621 \| DISEASES 8354 \| HIST1H3I \| 1.621 \| DISEASES 8356 \| HIST1H3J \| 1.411 \| DISEASES 55355 \| HJURP \| 2.096 \| DISEASES 100133311 \| HOXA-AS3 \| 3.345 \| DISEASES 3316 \| HSPB2 \| 1.149 \| DISEASES 3418 \| IDH2 \| 3.245 \| DISEASES 3456 \| IFNB1 \| 2.109 \| DISEASES 3632 \| INPP5A \| 2.634 \| DISEASES 57670 \| KIAA1549 \| 2.319 \| DISEASES 284366 \| KLK9 \| 2.386 \| DISEASES 375612 \| LHFPL3 \| 2.8 \| DISEASES 4004 \| LMO1 \| 1.269 \| DISEASES 4100 \| MAGEA1 \| 1.191 \| DISEASES 728239 \| MAGED4 \| 1.495 \| DISEASES 4134 \| MAP4 \| 1.358 \| DISEASES 4193 \| MDM2 \| 2.603 \| DISEASES 64223 \| MLST8 \| 2.08 \| DISEASES 4318 \| MMP9 \| 1.651 \| DISEASES 4609 \| MYC \| 1.032 \| DISEASES 29116 \| MYLIP \| 1.475 \| DISEASES 10763 \| NES \| 1.031 \| DISEASES 4763 \| NF1 \| 2.123 \| DISEASES 388677 \| NOTCH2NL \| 1.804 \| DISEASES 10215 \| OLIG2 \| 2.278 \| DISEASES 8682 \| PEA15 \| 1.153 \| DISEASES 23187 \| PHLDB1 \| 1.846 \| DISEASES 6490 \| PMEL \| 1.433 \| DISEASES 5420 \| PODXL \| 1.493 \| DISEASES 5422 \| POLA1 \| 1.362 \| DISEASES 11201 \| POLI \| 1.497 \| DISEASES 23362 \| PSD3 \| 2.094 \| DISEASES 5728 \| PTEN \| 3.495 \| DISEASES 5764 \| PTN \| 1.284 \| DISEASES 5799 \| PTPRN2 \| 1.52 \| DISEASES 117177 \| RAB3IP \| 2.23 \| DISEASES 23521 \| RPL13A \| 1.54 \| DISEASES 6125 \| RPL5 \| 1.234 \| DISEASES 57556 \| SEMA6A \| 1.299 \| DISEASES 81539 \| SLC38A1 \| 1.594 \| DISEASES 23583 \| SMUG1 \| 2.027 \| DISEASES 7041 \| TGFB1I1 \| 1.308 \| DISEASES 7042 \| TGFB2 \| 1.786 \| DISEASES 7150 \| TOP1 \| 1.156 \| DISEASES 8848 \| TSC22D1 \| 1.61 \| DISEASES 7316 \| UBC \| 1.467 \| DISEASES 7422 \| VEGFA \| 2.212 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) IDH2 \| 15q26.1

Disease ID	1180
Disease	anaplastic astrocytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0002664 \| Neoplasia \| 7 HP:0004326 \| Cachexia \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0012302 \| Herpes simplex encephalitis \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0000969 \| Dropsy \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0001067 \| Neurofibromas \| 1

Disease ID	1180
Disease	anaplastic astrocytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1442863 \| oculomotor nerve paresis C0426768 \| o sign
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:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913500	24473683	3417	IDH1	umls:C0334579	BeFree	C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutation in anaplastic astrocytoma.	0.006786047	2014	IDH1	2	208248388	C	T
rs121913500	23934769	3417	IDH1	umls:C0334579	BeFree	The IDH1 c.G395A; p.R132H mutation was observed in 56 and 94 % of grade II and grade III astrocytoma cases, respectively.	0.006786047	2014	IDH1	2	208248388	C	T
rs121913500	21344322	3417	IDH1	umls:C0334579	BeFree	In conclusion, the anti-IDH1-R132H-specific monoclonal antibody IMab-1 is very useful for detecting IDH1-R132H in immunohistochemistry, and predicting the time to progression in grade III anaplastic astrocytomas.	0.006786047	2011	IDH1	2	208248388	C	T
rs121913500	23934175	3417	IDH1	umls:C0334579	BeFree	We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111).	0.006786047	2013	IDH1	2	208248388	C	T
rs121913500	24473683	1410	CRYAB	umls:C0334579	BeFree	C-terminally truncated form of αB-crystallin is associated with IDH1 R132H mutation in anaplastic astrocytoma.	0.000271442	2014	IDH1	2	208248388	C	T
rs1412829	20212223	1030	CDKN2B	umls:C0334579	BeFree	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs6010620) for GBM and anaplastic astrocytoma.	0.000271442	2010	CDKN2B-AS1	9	22043927	A	G
rs1412829	20212223	51750	RTEL1	umls:C0334579	BeFree	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs6010620) for GBM and anaplastic astrocytoma.	0.000271442	2010	CDKN2B-AS1	9	22043927	A	G
rs6010620	20212223	51750	RTEL1	umls:C0334579	BeFree	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs6010620) for GBM and anaplastic astrocytoma.	0.000271442	2010	RTEL1;RTEL1-TNFRSF6B	20	63678486	A	G
rs6010620	20212223	1030	CDKN2B	umls:C0334579	BeFree	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs6010620) for GBM and anaplastic astrocytoma.	0.000271442	2010	RTEL1;RTEL1-TNFRSF6B	20	63678486	A	G

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	1180
Disease	anaplastic astrocytoma
Case	(Waiting for update.)

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