MCID: EPN002
MIFTS: 55

Ependymoma malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases categories

Aliases & Classifications for Ependymoma

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Ependymoma:

Name: Ependymoma 42 44 48 61
Papillary Ependymoma 42 61
Tanycytic Ependymoma 42 61
Cellular Ependymoma 42 61
 
Ependymal Tumor 42 61
Clear Cell Ependymoma 42
Ependymoma, Familial 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
ependymoma:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages


External Ids:

Orphanet48 251636
UMLS via Orphanet62 C0014474

Summaries for Ependymoma

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Wikipedia:64 Ependymoma is a tumor that arises from the ependyma, a tissue of the central nervous system. Usually, in... more...

MalaCards based summary: Ependymoma, also known as papillary ependymoma, is related to myxopapillary ependymoma and spinal cord ependymoma. An important gene associated with Ependymoma is RELA (v-rel avian reticuloendotheliosis viral oncogene homolog A), and among its related pathways are Epstein-Barr virus infection and IL-9 Signaling Pathways. The drug carmustine and the compounds eosin and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related mouse phenotypes are respiratory system and limbs/digits/tail.

Related Diseases for Ependymoma

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Diseases in the Ependymoma family:

Malignant Adult Ependymoma Benign Ependymoma
Malignant Ependymoma

Diseases related to Ependymoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1myxopapillary ependymoma32.2GFAP, S100B
2spinal cord ependymoma31.7HOXB13, NF2
3tanycytic ependymoma31.7NF2, GFAP
4clear cell ependymoma31.6VIM, MUC1
5malignant ependymoma31.5NF2, GFAP
6choroid plexus papilloma31.3GFAP
7papillary ependymoma31.2S100B, SYP, GFAP
8anaplastic ependymoma31.1GFAP, PTEN, MUC1, MDM2, NF2, S100B
9neurofibromatosis30.7NF2, S100B, MEN1, NGFR
10oligodendroglioma30.7PTEN, MGMT, GFAP
11hemangioblastoma30.6GFAP, S100B, MUC1, SYP
12neuroectodermal tumor30.5SYP, NCAM1
13gliosarcoma30.5PTEN, GFAP
14astroblastoma30.5VIM, GFAP
15multiple endocrine neoplasia30.4NF2, MEN1
16central neurocytoma30.4GFAP, SYP
17ganglioglioma30.3SYP, GFAP, S100B
18medulloblastoma30.2GFAP, MGMT, NGFR, SYP, S100B, NCAM1
19chondrosarcoma30.2MDM2, S100B, MUC1, VIM
20chordoma30.1NCAM1, MUC1, S100B, VIM, GFAP
21paraganglioma30.0GFAP, MEN1, SYP, S100B, NCAM1
22sarcoma30.0MUC1, MDM2, NF2, MKI67, VIM, S100B
23lipoma29.9MDM2, MEN1, PTEN, C11orf95
24pilocytic astrocytoma29.9S100B, PTEN, SYP, MGMT, GFAP
25neuroendocrine tumor29.8MKI67, NCAM1, SYP, MEN1
26neurofibroma29.8NF2, SYP, MUC1, VIM, NGFR, S100B
27malignant glioma29.2MGMT, GFAP, MDM2, NF2, SYP, PTEN
28astrocytoma29.1MDM2, NCAM1, S100B, SYP, VIM, MGMT
29glioblastoma29.1S100B, PTEN, NGFR, MDM2, GFAP, NCAM1
30adenocarcinoma27.7MGMT, MKI67, NGFR, PTEN, VIM, MUC1
31pediatric ependymoma10.6
32mixed glioma10.6GFAP
33dysembryoplastic neuroepithelial tumor10.5SYP
34melanotic neuroectodermal tumor10.5SYP
35hidradenoma10.5MUC1
36dermatofibrosarcoma protuberans10.5MDM2
37cervicitis10.5
38cystadenocarcinoma10.5MUC1
39neurilemmoma10.5GFAP, NF2
40secretory meningioma10.5VIM, MUC1
41adenomatoid tumor10.5VIM
42rhabdoid meningioma10.5GFAP, VIM
43chondrosarcoma, extraskeletal myxoid10.5C11orf95
44choroid plexus carcinoma10.4S100B, GFAP
45glomus tumor10.4VIM, SYP
46mesenchymal chondrosarcoma10.4VIM, MUC1
47spindle cell carcinoma10.4VIM, MUC1
48binswanger's disease10.4GFAP, SYP
49syringoma10.4GFAP, MUC1, S100B
50epithelioid sarcoma10.4VIM, MUC1

Graphical network of the top 20 diseases related to Ependymoma:



Diseases related to ependymoma

Symptoms for Ependymoma

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Drugs & Therapeutics for Ependymoma

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Drug clinical trials:

Search ClinicalTrials for Ependymoma

Search NIH Clinical Center for Ependymoma

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Ependymoma

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Anatomical Context for Ependymoma

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MalaCards organs/tissues related to Ependymoma:

31
Spinal cord, Brain, Bone, Pituitary, Cerebellum, Temporal lobe, Medulla oblongata, Liver, Lung, Ovary, Endothelial, Lymph node, Cortex, Retina, Skin, Prostate, Olfactory bulb, Pineal

Animal Models for Ependymoma or affiliated genes

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MGI Mouse Phenotypes related to Ependymoma:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7RELA, NGFR, PTEN, NF2, VIM
2MP:00053718.6PTEN, HOXB13, NGFR, RELA, MDM2
3MP:00053828.4NGFR, PTEN, NF2, MDM2, MEN1
4MP:00053818.4MDM2, MEN1, MUC1, PTEN, RELA, GFAP
5MP:00053708.4MUC1, PTEN, RELA, MEN1, NF2, NGFR
6MP:00020068.3MDM2, MEN1, MUC1, PTEN, MGMT, NF2
7MP:00053698.3GFAP, NGFR, PTEN, VIM, RELA, MEN1
8MP:00053808.3VIM, NF2, MEN1, RELA, MDM2, PTEN
9MP:00107718.1HOXB13, RELA, MUC1, PTEN, NGFR, MDM2
10MP:00053858.1RELA, VIM, MEN1, MDM2, PTEN, GFAP
11MP:00028738.1GFAP, NGFR, PTEN, RELA, SYP, S100B
12MP:00053798.1HOXB13, MGMT, NF2, PTEN, MUC1, RELA
13MP:00053898.0NF2, MDM2, MEN1, VIM, PTEN, HOXB13
14MP:00053877.9GFAP, MDM2, NGFR, PTEN, MEN1, RELA
15MP:00053917.7MUC1, GFAP, NGFR, PTEN, VIM, RELA
16MP:00053767.3PTEN, MUC1, VIM, MGMT, GFAP, NGFR
17MP:00053867.2HOXB13, NCAM1, NGFR, PTEN, VIM, S100B
18MP:00053787.2NCAM1, GFAP, NGFR, PTEN, VIM, RELA
19MP:00053847.1GFAP, VIM, MDM2, NCAM1, MEN1, HOXB13
20MP:00107686.6MGMT, GFAP, NGFR, PTEN, MDM2, NCAM1
21MP:00036316.5GFAP, MDM2, NF2, NCAM1, SYP, MEN1

Publications for Ependymoma

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Articles related to Ependymoma:

(show top 50)    (show all 808)
idTitleAuthorsYear
1
NHERF1/EBP50 is an organizer of polarity structures and a diagnostic marker in ependymoma. (25775275)
2015
2
Pediatric myxopapillary ependymoma treated with subtotal resection and radiation therapy: a case report and review of the literature. (25082377)
2014
3
Microsurgical resection of intramedullary spinal cord ependymoma. (25175587)
2014
4
Myxopapillary ependymoma in children: a study of 11 cases and a comparison with the adult experience. (25066546)
2014
5
Disseminated spinal myxopapillary ependymoma in an adult at initial presentation: a case report and review of the literature. (24460084)
2014
6
Treatment of Ovarian Anaplastic Ependymoma by an Aromatase Inhibitor. (24413241)
2014
7
Tanycytic ependymoma of the filum terminale associated with multiple endocrine neoplasia type 1: first reported case. (23562332)
2013
8
Peroxiredoxins and their expression in ependymomas. (23076395)
2013
9
Resection of filum terminale ependymoma. (23417748)
2013
10
Supra- and infratentorial pediatric ependymomas differ significantly in NeuN, p75 and GFAP expression. (23371454)
2013
11
Myxopapillary ependymoma in the third ventricle area and sacral canal: dropped or retrograde metastasis? (23615415)
2013
12
A cortical cystic epileptogenic lesion: tanycytic ependymoma. (23160807)
2013
13
Management of pediatric myxopapillary ependymoma: the role of adjuvant radiation. (22713833)
2013
14
Subcutaneous sacrococcygeal myxopapillary ependymoma in asian female:a case report. (22383930)
2012
15
Metronomic cyclophosphamide with cisplatin and bevacizumab: a new chemotherapeutic regimen for refractory anaplastic ependymoma. (23155280)
2012
16
Pediatric infratentorial ependymoma: prognostic significance of anaplastic histology. (21863401)
2012
17
Evaluating the incidence and utility of microscopic metastatic dissemination as diagnosed by lumbar cerebro-spinal fluid (CSF) samples in children with newly diagnosed intracranial ependymoma. (21038109)
2011
18
Supratentorial clear cell ependymoma mimicking oligodendroglioma : case report and review of the literature. (22102956)
2011
19
Molecular genetics of ependymoma. (21959044)
2011
20
Intracranial ependymoma associated with multiple endocrine neoplasia type 1. (20142633)
2010
21
Proton beam therapy following resection for childhood ependymoma. (20024657)
2010
22
Utility of cerebrospinal fluid cytology in newly diagnosed childhood ependymoma. (20463607)
2010
23
Pigmented ependymoma with signet-ring cells and Rosenthal fibers: a rare variant of ependymoma. (19508348)
2010
24
Conus ependymoma with holocord syringomyelia. (19587487)
2009
25
Survival following treatment for intracranial ependymoma: a review. (19387655)
2009
26
Evolution of neurological impairment in pediatric infratentorial ependymoma patients. (19330288)
2009
27
Conformal radiotherapy after surgery for paediatric ependymoma: a prospective study. (19274783)
2009
28
Cytokine and growth factor responses after radiotherapy for localized ependymoma. (19019565)
2009
29
Recurrent ependymoma with cartilaginous metaplasia in an adult: report of a rare case and review of literature. (19353841)
2009
30
Sacral myxopapillary ependymoma with extensive osteolysis. (17952371)
2008
31
Case report: primary subcutaneous sacrococcygeal ependymoma: a case report and review of the literature. (16632628)
2006
32
Intradural extramedullary spinal anaplastic ependymoma. Case illustration. (17120902)
2006
33
Myxopapillary ependymoma with intracranial metastases. (16455546)
2005
34
Extra-axial ependymoma of posterior fossa extending to the Meckel's cave. (15885395)
2005
35
Monomorphous angiocentric glioma: a distinctive epileptogenic neoplasm with features of infiltrating astrocytoma and ependymoma. (16215459)
2005
36
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
37
Large supratentorial ectopic ependymoma with massive calcification and cyst formation--case report. (15508351)
2004
38
Light microscopic demonstration of the microlumen of ependymoma: a study of the usefulness of antigen retrieval for epithelial membrane antigen (EMA) immunostaining. (15696964)
2004
39
Distribution of the extracellular matrix glycoproteins in ependymomas--an immunohistochemical study with follow-up analysis. (15254676)
2004
40
Experience with tamoxifen/etoposide in the treatment of a child with myxopapillary ependymoma. (11466729)
2001
41
Neuroradiology case of the day. Myxopapillary ependymoma of the conus medullaris or filum terminale resulting in superficial siderosis and dissemination of tumor along CSF pathways. (9599402)
1998
42
Anaplastic ependymoma: treatment of pediatric patients with or without craniospinal radiation therapy. (9171172)
1997
43
Efficacy and feasibility of stereotactic radiosurgery in the primary management of unfavorable pediatric ependymoma. (9215786)
1997
44
Tanycytic ependymoma. (9090024)
1997
45
Expression of platelet-derived growth factor transcripts in medulloblastomas and ependymomas. (8841077)
1996
46
TGF beta 1 and TGF beta 2 are potential growth regulators for medulloblastomas, primitive neuroectodermal tumors, and ependymomas: evidence in support of an autocrine hypothesis. (8200640)
1994
47
Intramedullary abscess associated with a spinal cord ependymoma: case report. (1738441)
1992
48
Mixed ependymoma-astrocytoma (subependymoma?) of the cerebral cortex. (3201927)
1988
49
Case report 435: Myxopapillary ependymoma of filum terminale with massive bone destruction of sacrum. (3659996)
1987
50
Myxopapillary ependymoma of the lateral ventricle. A study on the mechanism of its stromal myxoid change. (6359815)
1983

Variations for Ependymoma

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Expression for genes affiliated with Ependymoma

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Search GEO for disease gene expression data for Ependymoma.

Pathways for genes affiliated with Ependymoma

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Pathways related to Ependymoma according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6VIM, RELA, MDM2
2
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
9.5RELA, PTEN, MUC1
3
Show member pathways
9.5MDM2, NGFR, RELA
49.5VIM, NGFR, GFAP
5
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.4PTEN, RELA, VIM
6
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
9.4PTEN, MDM2, RELA
7
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
9.4RELA, MDM2, PTEN
89.4MDM2, RELA, PTEN
9
Show member pathways
Signaling Pathways in Glioblastoma36
9.4MDM2, RELA, PTEN
10
Show member pathways
Signal transduction PTEN pathway59
9.4MDM2, PTEN, RELA
11
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.3RELA, PTEN, NGFR
129.3RELA, MEN1, MGMT
139.1NGFR, MDM2, RELA, MEN1
149.0NCAM1, NGFR, RELA
159.0NGFR, PTEN, MDM2, RELA
16
Show member pathways
9.0NGFR, MDM2, PTEN, RELA
17
Show member pathways
8.9MDM2, GFAP, S100B, RELA, PTEN
188.7MDM2, NF2, PTEN, MGMT
19
Show member pathways
8.4PTEN, NGFR, GFAP, VIM, MUC1, MDM2
20
Show member pathways
8.1GFAP, NGFR, PTEN, RELA, MEN1, S100B
217.5MKI67, GFAP, NGFR, SYP, S100B, NCAM1

Compounds for genes affiliated with Ependymoma

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Compounds related to Ependymoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1eosin449.8S100B, GFAP, VIM, MUC1
2mucicarmine449.6SYP, S100B, MUC1, VIM
3b 723449.5SYP, S100B, VIM, MUC1
4s 100449.4VIM, GFAP, S100B, MUC1, SYP
5reticulin449.4GFAP, MUC1, SYP, S100B, VIM
6dutp449.2MKI67, GFAP, MDM2, SYP
7streptozotocin449.1SYP, MGMT, GFAP, VIM
8choline44 24 1111.0GFAP, SYP, NGFR, VIM, S100B
9forskolin44 50 1110.8GFAP, SYP, S100B, MUC1, VIM, NGFR
10bromodeoxyuridine448.6GFAP, VIM, NCAM1, S100B, MKI67
11ganglioside448.6GFAP, NGFR, SYP, NCAM1, VIM
12methotrexate50 44 1110.5MGMT, MDM2, VIM, MUC1, MKI67
13agar448.5MUC1, NF2, VIM, GFAP, NGFR, MDM2
14matrigel448.4GFAP, NGFR, VIM, MUC1, NCAM1
15dbc-amp448.4NCAM1, GFAP, NGFR, VIM, SYP, S100B
16etoposide44 50 60 1111.4PTEN, VIM, S100B, MGMT, MDM2, SYP
17gaba448.3S100B, VIM, GFAP, NCAM1, SYP, NGFR
18formaldehyde44 249.3S100B, SYP, MUC1, VIM, GFAP, MKI67
19acetylcholine44 50 28 24 1112.3SYP, GFAP, NGFR, VIM, S100B, NCAM1
20estradiol44 24 1110.3MUC1, SYP, PTEN, MDM2, GFAP, MKI67
21genistein44 28 60 1 24 1113.3PTEN, SYP, MGMT, MDM2, VIM, GFAP
225fluorouracil448.2MDM2, MUC1, MGMT, MKI67, PTEN
23creatinine448.1GFAP, VIM, MUC1, SYP, S100B, NCAM1
24cyclic amp44 249.1GFAP, MDM2, S100B, SYP, MUC1, VIM
25glycogen44 249.1MDM2, S100B, MUC1, MKI67, VIM, GFAP
26paclitaxel44 50 1110.0VIM, MDM2, S100B, MGMT, MKI67, GFAP
27oxygen44 249.0MKI67, GFAP, PTEN, MUC1, RELA, NGFR
28leucine448.0GFAP, NGFR, PTEN, VIM, SYP, S100B
29cisplatin44 50 60 1110.9SYP, MDM2, MUC1, GFAP, MKI67, MGMT
30lactate447.8MGMT, S100B, NCAM1, MKI67, GFAP, VIM
31thymidine44 248.8MKI67, GFAP, MUC1, MEN1, S100B, MDM2
32glutamate447.8MDM2, NCAM1, S100B, SYP, NGFR, GFAP
33vincristine44 50 119.7MGMT, PTEN, VIM, NCAM1, MDM2, MKI67
34doxorubicin44 50 119.6MDM2, MKI67, VIM, MGMT, NCAM1, PTEN
35ethanol44 50 24 1110.4MKI67, NGFR, PTEN, MUC1, SYP, GFAP
36dexamethasone44 50 28 1110.2SYP, MUC1, VIM, MGMT, S100B, NCAM1
37threonine447.2NGFR, MUC1, S100B, GFAP, NF2, MDM2
38hematoxylin447.1MKI67, NCAM1, S100B, SYP, MUC1, VIM
39testosterone44 60 24 1110.0MKI67, GFAP, PTEN, MUC1, RELA, SYP
40lipid447.0MKI67, MUC1, SYP, NCAM1, NGFR, PTEN
41nitric oxide44 24 118.7NCAM1, MGMT, MKI67, NGFR, MDM2, S100B
42retinoic acid44 247.5SYP, MGMT, NCAM1, S100B, MUC1, VIM
43cysteine446.4SYP, MGMT, S100B, MDM2, NF2, NCAM1
44tyrosine446.4MKI67, GFAP, NGFR, PTEN, MUC1, S100B
45serine445.9NF2, GFAP, MEN1, MUC1, VIM, SYP
46progesterone44 28 60 24 119.9GFAP, MKI67, MGMT, MDM2, NF2, NCAM1
47calcium44 50 24 118.8MDM2, SYP, NCAM1, MEN1, RELA, MUC1
48estrogen445.8S100B, NCAM1, MDM2, SYP, MEN1, MUC1
49vegf445.8NGFR, PTEN, VIM, MUC1, MEN1, SYP
50paraffin445.7VIM, MGMT, NCAM1, NF2, S100B, PTEN

GO Terms for genes affiliated with Ependymoma

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Cellular components related to Ependymoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.5MDM2, MEN1, RELA, NGFR, MGMT
2cytosolGO:00058298.0GFAP, NGFR, PTEN, VIM, RELA, MEN1
3nucleolusGO:00057307.8HOXB13, MKI67, PTEN, MEN1, NF2, MDM2
4nucleusGO:00056346.9HOXB13, MGMT, MKI67, PTEN, RELA, MEN1
5cytoplasmGO:00057376.4MDM2, MKI67, GFAP, PTEN, VIM, MUC1

Biological processes related to Ependymoma according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1Bergmann glial cell differentiationGO:006002010.3VIM, GFAP
2astrocyte developmentGO:001400210.2GFAP, VIM
3intermediate filament organizationGO:004510910.2VIM, GFAP
4regulation of neuronal synaptic plasticityGO:004816810.0S100B, SYP
5membrane protein intracellular domain proteolysisGO:003129310.0NGFR, RELA
6response to morphineGO:00432789.9MDM2, RELA
7negative regulation of organ growthGO:00466219.9PTEN, MEN1
8long-term synaptic potentiationGO:00602919.8S100B, PTEN, GFAP
9negative regulation of neuron projection developmentGO:00109779.6VIM, GFAP
10regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432819.6NGFR, MGMT
11negative regulation of axonogenesisGO:00507719.6PTEN, NGFR
12positive regulation of apoptotic signaling pathwayGO:020012359.5PTEN, NGFR
13central nervous system developmentGO:00074179.5NGFR, PTEN, S100B
14Fc-epsilon receptor signaling pathwayGO:00380959.3PTEN, RELA, MDM2
15positive regulation of cell proliferationGO:00082849.3MDM2, S100B, RELA, PTEN
16neurotrophin TRK receptor signaling pathwayGO:00480119.3NGFR, PTEN, RELA, MDM2
17positive regulation of apoptotic processGO:00430659.2NGFR, PTEN, MEN1, S100B
18response to drugGO:00424939.1MDM2, RELA, PTEN, MGMT
19negative regulation of apoptotic processGO:00430669.1NGFR, PTEN, RELA, MDM2

Molecular functions related to Ependymoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:00971109.9MDM2, VIM
2ubiquitin protein ligase bindingGO:00316259.2NGFR, RELA, MDM2
3identical protein bindingGO:00428028.1MDM2, VIM, RELA, SYP, S100B, NCAM1
4protein bindingGO:00055156.9MKI67, NGFR, PTEN, VIM, MUC1, RELA

Sources for Ependymoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet