MCID: RLF001
MIFTS: 16

Rela Fusion-Positive Ependymoma

Categories: Bone diseases, Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rela Fusion-Positive Ependymoma

MalaCards integrated aliases for Rela Fusion-Positive Ependymoma:

Name: Rela Fusion-Positive Ependymoma 12 58
Supratentorial C11orf95-Rela Fused Ependymoma 12 58
C11orf95 Fusion-Positive Supratentorial Ependymoma 12

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080892
NCIt 50 C129351
Orphanet 58 ORPHA530792

Summaries for Rela Fusion-Positive Ependymoma

Disease Ontology : 12 A supratentorial ependymoma that has material basis in presence of a RELA fusion gene.

MalaCards based summary : Rela Fusion-Positive Ependymoma, also known as supratentorial c11orf95-rela fused ependymoma, is related to supratentorial ependymoma and cellular ependymoma. An important gene associated with Rela Fusion-Positive Ependymoma is RELA (RELA Proto-Oncogene, NF-KB Subunit).

Related Diseases for Rela Fusion-Positive Ependymoma

Diseases related to Rela Fusion-Positive Ependymoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 supratentorial ependymoma 30.3 ZFTA RELA
2 cellular ependymoma 30.2 ZFTA RELA
3 high grade ependymoma 29.8 ZFTA RELA
4 benign ependymoma 10.4
5 anaplastic ependymoma 10.3
6 down syndrome 10.2
7 pediatric supratentorial ependymoma 9.8 ZFTA RELA
8 tanycytic ependymoma 9.7 ZFTA RELA
9 myxopapillary ependymoma 9.7 ZFTA RELA
10 cerebral ventricle cancer 9.7 ZFTA RELA
11 cerebrum cancer 9.6 ZFTA RELA
12 supratentorial cancer 9.6 ZFTA RELA
13 pediatric ependymoma 9.5 ZFTA RELA

Graphical network of the top 20 diseases related to Rela Fusion-Positive Ependymoma:



Diseases related to Rela Fusion-Positive Ependymoma

Symptoms & Phenotypes for Rela Fusion-Positive Ependymoma

Drugs & Therapeutics for Rela Fusion-Positive Ependymoma

Search Clinical Trials , NIH Clinical Center for Rela Fusion-Positive Ependymoma

Genetic Tests for Rela Fusion-Positive Ependymoma

Anatomical Context for Rela Fusion-Positive Ependymoma

Publications for Rela Fusion-Positive Ependymoma

Articles related to Rela Fusion-Positive Ependymoma:

(show all 13)
# Title Authors PMID Year
1
RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report. 61
33690230 2021
2
Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features. 61
33221956 2021
3
Cortically based cystic supratentorial RELA fusion-positive ependymoma: a case report with unusual presentation and appearance and review of literature. 61
33033550 2020
4
RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report. 61
32754892 2020
5
In vitro benchmarking of NF-κB inhibitors. 61
32014486 2020
6
L1CAM High Expression Associates with Poor Prognosis in Glioma but Does Not Correlate with C11orf95-RELA Fusion. 61
32509846 2020
7
Role of Immunohistochemistry in the Identification of Supratentorial C11ORF95-RELA Fused Ependymoma in Routine Neuropathology. 61
29266023 2019
8
DNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment. 61
30053291 2018
9
WHO 2016 Classification of gliomas. 61
28815663 2018
10
Preoperative and intraoperative perfusion magnetic resonance imaging in a RELA fusion-positive anaplastic ependymoma: A case report. 61
30105138 2018
11
A Simplified Overview of World Health Organization Classification Update of Central Nervous System Tumors 2016. 61
29204027 2017
12
The 2016 WHO Classification of Tumours of the Central Nervous System: The Major Points of Revision. 61
28592714 2017
13
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. 61
27157931 2016

Variations for Rela Fusion-Positive Ependymoma

Expression for Rela Fusion-Positive Ependymoma

Search GEO for disease gene expression data for Rela Fusion-Positive Ependymoma.

Pathways for Rela Fusion-Positive Ependymoma

GO Terms for Rela Fusion-Positive Ependymoma

Biological processes related to Rela Fusion-Positive Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 8.62 ZFTA RELA

Sources for Rela Fusion-Positive Ependymoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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