Clear Cell Ependymoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Clear Cell Ependymoma

MalaCards integrated aliases for Clear Cell Ependymoma:

Name: Clear Cell Ependymoma ¹¹ ⁵³ ⁵ ¹⁴

Cellular Ependymoma ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:5507

UMLS ⁷¹ C1384403

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Summaries for Clear Cell Ependymoma

MalaCards based summary: Clear Cell Ependymoma, also known as cellular ependymoma, is related to cauda equina syndrome and cellular ependymoma. An important gene associated with Clear Cell Ependymoma is MEN1 (Menin 1), and among its related pathways/superpathways are Neuroscience and Neural Stem Cells and Lineage-specific Markers. The drugs Cisplatin and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, medulla oblongata and temporal lobe, and related phenotypes are Increased proliferation and normal

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Related Diseases for Clear Cell Ependymoma

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

(show top 50) (show all 193)

#	Related Disease	Score	Top Affiliating Genes
1	cauda equina syndrome	30.3	SYP GFAP
2	cellular ependymoma	30.2	ZFTA VIM SYP RELA NF2 MUC1
3	hemangioblastoma	30.1	VIM SYP MUC1 GFAP
4	oligodendroglioma	30.1	VIM SYP OLIG2 MSH2 GFAP
5	pilocytic astrocytoma	29.9	SYP OLIG2 GFAP
6	supratentorial ependymoma	29.9	ZFTA RELA NF2
7	brain cancer	29.6	SYP OLIG2 NF2 MSH2 GFAP
8	central neurocytoma	29.5	SYP RBFOX3 OLIG2 GFAP
9	high grade ependymoma	29.1	ZFTA RELA OLIG2 NF2 GFAP
10	meningioma, familial	28.8	VIM SYP OLIG2 NF2 MUC1 MEN1
11	myxopapillary ependymoma	28.6	ZFTA VIM SYP RELA NF2 MUC1
12	glioma susceptibility 1	10.6
13	mucinous adenocarcinoma	10.2	MUC1 MSH2
14	transitional meningioma	10.2	NF2 MUC1
15	pancreatic signet ring cell adenocarcinoma	10.2	MUC1 MSH2
16	signet ring cell adenocarcinoma	10.2	MUC1 MSH2
17	medullary colon carcinoma	10.2	MUC1 MSH2
18	fibrous meningioma	10.2	NF2 MUC1
19	gastric gastrinoma	10.2	SYP MEN1
20	gastrointestinal neuroendocrine benign tumor	10.2	SYP MEN1
21	duodenal gastrinoma	10.2	SYP MEN1
22	pancreatic gastrinoma	10.2	SYP MEN1
23	pineal region meningioma	10.2	SYP NF2
24	carcinoid tumors, intestinal	10.2	SYP MEN1
25	bile duct adenoma	10.2	VIM MUC1
26	gastrointestinal neuroendocrine tumor	10.2	SYP MEN1
27	chordoid meningioma	10.2	SYP NF2
28	gastric neuroendocrine neoplasm	10.2	SYP MEN1
29	orbital cancer	10.2	SYP NF2
30	small intestine benign neoplasm	10.2	SYP MEN1
31	appendix carcinoid tumor	10.2	SYP MSH2
32	pulmonary neuroendocrine tumor	10.2	SYP MEN1
33	spinal cord glioma	10.2	ZFTA NF2
34	esophageal neuroendocrine tumor	10.2	SYP MEN1
35	central nervous system fibrosarcoma	10.2	NF2 GFAP
36	vulvar eccrine porocarcinoma	10.2	SYP MUC1
37	bile duct mucinous adenocarcinoma	10.2	SYP MUC1
38	intraventricular meningioma	10.2	NF2 GFAP
39	hidradenoma	10.2	VIM MUC1
40	central epithelioid sarcoma	10.1	VIM SYP
41	vulvar proximal-type epithelioid sarcoma	10.1	VIM SYP
42	salpingitis isthmica nodosa	10.1	SYP NF2
43	optic nerve neoplasm	10.1	OLIG2 NF2
44	pancreatic endocrine carcinoma	10.1	SYP MEN1
45	factor viii deficiency	10.1
46	glanders	10.1
47	adenofibroma	10.1	VIM MUC1
48	microcystic adenoma	10.1	SYP MUC1
49	meningothelial meningioma	10.1	NF2 GFAP
50	optic nerve glioma	10.1	OLIG2 NF2

Graphical network of the top 20 diseases related to Clear Cell Ependymoma:

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Symptoms & Phenotypes for Clear Cell Ependymoma

GenomeRNAi Phenotypes related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased proliferation	GR00094-A	8.62	MEN1 NF2

MGI Mouse Phenotypes related to Clear Cell Ependymoma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	9.7	GFAP MEN1 MUC1 RELA SYP VIM
2	neoplasm	MP:0002006	9.65	MEN1 MSH2 MUC1 NF2 OLIG2
3	nervous system	MP:0003631	9.61	GFAP MEN1 MSH2 NF2 OLIG2 RBFOX3
4	digestive/alimentary	MP:0005381	9.1	GFAP MEN1 MSH2 MUC1 NF2 RELA

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Drugs & Therapeutics for Clear Cell Ependymoma

Drugs for Clear Cell Ependymoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Cisplatin

Approved

Phase 3

15663-27-1

2767 5702198 441203

2

Carboplatin

Approved

Phase 3

41575-94-4

10339178 38904

3

Etoposide

Approved

Phase 3

33419-42-0

36462

Synonyms:

(-)-Etoposide

(−)-ETOPOSIDE

4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-b-D-glucopyranoside)

4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)

4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-β-D-glucopyranoside)

4-Demethylepipodophyllotoxin b-D-ethylideneglucoside

4-Demethylepipodophyllotoxin beta-D-ethylideneglucoside

4-Demethylepipodophyllotoxin β-D-ethylideneglucoside

9-((4,6-O-Ethylidine-b-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one

9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one

9-((4,6-O-Ethylidine-β-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one

alpha-D-Glucopyranosyl isomer etoposide

Baxter brand OF etoposide

Baxter oncology brand OF etoposide

Bristol myers brand OF etoposide

Bristol myers squibb brand OF etoposide

Bristol-myers brand OF etoposide

Bristol-myers squibb brand OF etoposide

Celltop

Demethyl epipodophyllotoxin ethylidine glucoside

Eposide

Eposin

Eto gry

Eto-gry

Etomedac

Etopophos

Etopos

ETOPOSIDE

Etoposide pierre fabre

Etoposide teva

Etoposide, (5a alpha)-isomer

Etoposide, (5a alpha,9 alpha)-isomer

Etoposide, (5S)-isomer

Etoposide, alpha D glucopyranosyl isomer

Etoposide, alpha-D-glucopyranosyl isomer

Etoposido

Etoposido ferrer farma

Etoposidum

Etoposidum [INN-Latin]

Exitop

Ferrer brand OF etoposide

Gry brand OF etoposide

Lastet

Lemery brand OF etoposide

Medac brand OF etoposide

Novartis brand OF etoposide

NSC-141540

Onkoposid

Onkoworks brand OF etoposide

Pharmachemie brand OF etoposide

Pierre fabre brand OF etoposide

Prasfarma brand OF etoposide

Riboposid

Ribosepharm brand OF etoposide

Sanfer brand OF etoposide

Tedec meiji brand OF etoposide

Teva brand OF etoposide

Teva, etoposide

Toposar

trans-Etoposide

Vepesid

Vepesid J

Vépéside sandoz

Vépéside-sandoz

VP 16

VP 16-213

VP-16

VP-16-213

Zuyeyidal

4

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

5

Vincristine

Approved, Investigational

Phase 3

2068-78-2, 57-22-7

5978

6

Picropodophyllin

Approved, Investigational

Phase 3

518-28-5, 477-47-4

10607 72435

7

Antirheumatic Agents

Phase 3

8

Alkylating Agents

Phase 3

9

Antineoplastic Agents, Alkylating

Phase 3

10

Etoposide phosphate

Phase 3

16760419

11

Antimitotic Agents

Phase 3

12

Keratolytic Agents

Phase 3

13

Tubulin Modulators

Phase 3

14

Immunosuppressive Agents

Phase 3

15

Dermatologic Agents

Phase 3

16

Immunologic Factors

Phase 3

17

Vaccines

Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Phase III Randomized Trial of Post-Radiation Chemotherapy in Patients With Newly Diagnosed Ependymoma Ages 1 to 21 Years	Active, not recruiting	NCT01096368	Phase 3	Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Vincristine
2	A Phase I and Feasibility Trial of Heat Shock Protein Peptide Complex-96 (HSPPC-96) Vaccine for Pediatric Patients With Newly Diagnosed Intracranial High Grade Glioma and Recurrent Resectable Intracranial High Grade Glioma and Ependymoma	Terminated	NCT02722512	Phase 1

Search NIH Clinical Center for Clear Cell Ependymoma

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Genetic Tests for Clear Cell Ependymoma

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Anatomical Context for Clear Cell Ependymoma

Organs/tissues related to Clear Cell Ependymoma:

MalaCards : Spinal Cord, Medulla Oblongata, Temporal Lobe, Cerebellum, Brain, Bone

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Publications for Clear Cell Ependymoma

Articles related to Clear Cell Ependymoma:

(show top 50) (show all 54)

#	Title	Authors	PMID	Year
1	[Immunohistochemical study is helpful for the diagnosis of cerebellar clear cell ependymoma with atypical radiological findings--case report]. ⁵³ ⁶²	Hayashi T...Kameyama K	16277226	2005
2	Supratentorial ependymoma, zinc finger translocation-associated fusion positive, with extensive synaptophysin immunoreactivity arising from malignant transformation of clear cell ependymoma: A case report. ⁶²	Bethel JA...Gilbert AR	35509570	2022
3	The Effects of Surgery and Adjuvant Therapy on Survival Outcomes in Clear Cell Ependymomas: A Systematic Review and Meta-Analysis of Individual Patient Data. ⁶²	Sheen Kweh BT...Tee JW	32949795	2021
4	Intramedullary clear cell ependymoma of the lower thoracic spinal cord: report of a new case. ⁶²	Rocha-Maguey J...Fragosa-Sanchez E	33365185	2020
5	Low-grade neuroepithelial tumor: Unusual presentation in an adult without history of seizures. ⁶²	Riva G...Eccher A	30051533	2018
6	Prognostic Implications of Histological Clear Cells in High-Grade Intracranial Ependymal Tumors: A Retrospective Analysis from a Tertiary Care Hospital in Pakistan. ⁶²	Hashmi FA...Bari ME	29682026	2018
7	A case of clear cell ependymoma with bizarre aggressiveness: Are we underestimating its ferocity? ⁶²	Gupta K...Salunke P	28879912	2017
8	Cerebellar ependymoma with overlapping features of clear-cell and tanycytic variants mimicking hemangioblastoma: a case report and literature review. ⁶²	Zhang XP...Wang EH	28320419	2017
9	Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling. ⁶²	Figarella-Branger D...Pietsch T	26984744	2016
10	Clear cell ependymoma with late leptomeningeal and supratentorial metastases. ⁶²	Bekci T...Incesu L	26431995	2016
11	Anaplastic oligodendroglioma arising from the brain stem and featuring 1p/19q co-deletion. ⁶²	Hewer E...Vajtai I	23711170	2014
12	Clear cell ependymoma in a dog. ⁶²	Traslavina RP...Higgins RJ	23273584	2013
13	Clear cells are associated with proliferative activity in ependymoma: a quantitative study. ⁶²	Ishizawa K...Sasaki A	22551919	2012
14	Clear cell ependymoma with trisomy 19 developing bone metastases. ⁶²	Payet M...Frappaz D	22207400	2012
15	Anaplastic clear cell ependymoma of the conus medullaris and cauda equina in a 3-year-old child. ⁶²	Eshraghi H...Walt Av	22009009	2012
16	A case of anaplastic clear-cell ependymoma presenting with high erythropoietin concentration and 1p/19q deletions. ⁶²	Asano K...Wakabayashi K	21643803	2011
17	Supratentorial clear cell ependymoma mimicking oligodendroglioma : case report and review of the literature. ⁶²	Lee BH...Park YS	22102956	2011
18	Intraparenchymal clear cell ependymoma. ⁶²	Deb P...Bhatoe HS	21713151	2011
19	Glycogen-rich pleomorphic xanthoastrocytoma with clear-cell features: confirmatory report of a rare variant with implications for differential diagnosis. ⁶²	Vajtai I...Frank S	21282017	2011
20	Clear cell ependymoma occurring in the cauda equina. ⁶²	Kim DJ...Park KH	20856665	2010
21	Intraoperative imprint cytology of central neurocytoma: The great oligodendroglioma mimicker. ⁶²	Klysik M...De Las Casas LE	19795492	2010
22	Differentiation of clear cell ependymoma of the cerebellum from hemangioblastoma by thallium-201 single photon emission computed tomography-case report-. ⁶²	Nagamatsu K...Tominaga T	20035139	2009
23	Malignant transformation of supratentorial clear cell ependymoma. ⁶²	Kurimoto M...Endo S	18647267	2009
24	Patterns of brain infiltration and secondary structure formation in supratentorial ependymal tumors. ⁶²	Lehman NL	18716554	2008
25	Clear cell ependymoma: a mimicker of oligodendroglioma--report of three cases. ⁶²	Jain D...Suri V	18248576	2008
26	Olig2 and CD99 are useful negative markers for the diagnosis of brain tumors. ⁶²	Ishizawa K...Hirose T	18552083	2008
27	Clear-cell ependymoma: a report of intracortical tumor with significant desmoplasia. ⁶²	Parafeynikov V...Bonnin JM	18194140	2008
28	The prognostic value of histological grading of posterior fossa ependymomas in children: a Children's Oncology Group study and a review of prognostic factors. ⁶²	Tihan T...Rushing EJ	18084249	2008
29	Giant cell ependymoma: a case report. ⁶²	Adamek D...Jaworski M	18006220	2008
30	Clear cell ependymoma of the temporal lobe in a child: a case report. ⁶²	Seyithanoglu H...Ozkan N	18097199	2008
31	Intramedullary clear cell ependymoma in the thoracic spinal cord: a case with its crush smear and ultrastructural findings. ⁶²	Kim NR...Ha SY	17923743	2007
32	Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma. ⁶²	Rousseau E...Godfraind C	17626628	2007
33	Clear-cell ependymoma of the cerebellum: a case report. ⁶²	Kim JH...Park SH	17614003	2007
34	Imaging features of clear-cell ependymoma of the spinal cord. ⁶²	Bapuraj JR...Muraszko KM	17279401	2007
35	Chromosomal imbalances in clear cell ependymomas. ⁶²	Rickert CH...Paulus W	16648869	2006
36	Clear cell meningioma: case report and review of the literature. ⁶²	Oviedo A...Smith M	16010490	2005
37	Clear cell ependymoma of the fourth ventricle. ⁶²	Katoh M...Nagashima K	15641594	2004
38	Value and limits of immunohistochemistry in differential diagnosis of clear cell primary brain tumors. ⁶²	Koperek O...Hainfellner JA	15108012	2004
39	Supratentorial lobar anaplastic ependymoma resembling cerebral metastasis: a case report. ⁶²	Bunyaratavej K...Khaoroptham S	15521241	2004
40	Histological spectrum of ependymomas and correlation of p53 and Ki-67 expression with ependymoma grade and subtype. ⁶²	Suri VS...Sharma A	15318011	2004
41	Clear cell ependymoma: a clinicopathologic and radiographic analysis of 10 patients. ⁶²	Fouladi M...Fuller C	14601094	2003
42	Clear cell ependymoma with a lipidized component that developed in the thoracic spinal cord. ⁶²	Kim YJ...Yamauchi M	12870256	2003
43	Case of clear cell ependymoma of medulla oblongata: clinicopathological and immunohistochemical study with literature review. ⁶²	Amatya VJ...Inai K	12713564	2003
44	Oligodendroglioma: pathology and molecular biology. ⁶²	Engelhard HH...Cochran EJ	12453646	2002
45	Prognostic value of Ki-67 (MIB-1) and p53 in ependymomas. ⁶²	Suzuki S...Fujii K	11908872	2001
46	Intramedullary clear cell ependymoma in the cervical spinal cord: case report. ⁶²	Akutsu H...Matsumura A	11126915	2000
47	[Brain surface clear cell ependymoma: case report]. ⁶²	Fujimoto K...Takemura K	10478346	1999
48	Cerebellar clear cell ependymoma mimicking hemangioblastoma: its clinical and pathological features. ⁶²	Kawano N...Fujii K	10086492	1999
49	[Clear cell ependymoma--a case report]. ⁶²	Abe T...Matsumoto K	9621365	1998
50	Clear cell ependymoma: a mimic of oligodendroglioma: clinicopathologic and ultrastructural considerations. ⁶²	Min KW...Scheithauer BW	9236838	1997

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Genes for Clear Cell Ependymoma

Genes related to Clear Cell Ependymoma (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MEN1	Menin 1	Protein Coding	400	Pathogenic ⁵
2	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	29.58	Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	MSH2	MutS Homolog 2	Protein Coding	25	Likely pathogenic ⁵
4	VIM	Vimentin	Protein Coding	11.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16277226
5	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	8.65	Novoseek inferred ⁵³	16277226
6	ZFTA	Zinc Finger Translocation Associated	Protein Coding	6.92	DISEASES inferred ¹⁴
7	SYP	Synaptophysin	Protein Coding	6.45	DISEASES inferred ¹⁴
8	OLIG2	Oligodendrocyte Transcription Factor 2	Protein Coding	6.26	DISEASES inferred ¹⁴
9	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	5.78	DISEASES inferred ¹⁴
10	RBFOX3	RNA Binding Fox-1 Homolog 3	Protein Coding	5.64	DISEASES inferred ¹⁴
11	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	5.56	DISEASES inferred ¹⁴

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Variations for Clear Cell Ependymoma

ClinVar genetic disease variations for Clear Cell Ependymoma:

⁵ (show all 36)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MEN1	NM_001370259.2(MEN1):c.696dup (p.Lys233fs)	DUP	Pathogenic	487778	rs1555165565	GRCh37: 11:64575111-64575111 GRCh38: 11:64807638-64807639
2	NF2	NM_000268.4(NF2):c.551G>A (p.Trp184Ter)	SNV	Likely Pathogenic	487796	rs1555993293	GRCh37: 22:30051617-30051617 GRCh38: 22:29655628-29655628
3	overlap with 76 genes	dup(11)(q13.1q13.1)	DUP	Likely Pathogenic	634998		GRCh37: 11:63533279-65429676 GRCh38:
4	MSH2	NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	SNV	Likely Pathogenic	565544	rs63750126	GRCh37: 2:47637348-47637348 GRCh38: 2:47410209-47410209
5	RET	NM_020975.6(RET):c.1202G>A (p.Ser401Asn)	SNV	Uncertain Significance	620604	rs1564493414	GRCh37: 10:43604617-43604617 GRCh38: 10:43109169-43109169
6	MAP4K3	NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser)	SNV	Uncertain Significance	487798	rs1268580645	GRCh37: 2:39552678-39552678 GRCh38: 2:39325537-39325537
7	KLHL21	NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)	SNV	Uncertain Significance	487795	rs1292721663	GRCh37: 1:6662377-6662377 GRCh38: 1:6602317-6602317
8	VBP1	NM_003372.7(VBP1):c.331C>A (p.Leu111Met)	SNV	Uncertain Significance	487792	rs1000821034	GRCh37: X:154456711-154456711 GRCh38: X:155228429-155228429
9	TASOR	NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys)	SNV	Uncertain Significance	487784	rs1553733337	GRCh37: 3:56716938-56716938 GRCh38: 3:56682910-56682910
10	SETD9	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)	DEL	Uncertain Significance	487781	rs1554039146	GRCh37: 5:56210766-56210774 GRCh38: 5:56914939-56914947
11	TXNRD2	NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro)	SNV	Uncertain Significance	487801	rs1555906972	GRCh37: 22:19865626-19865626 GRCh38: 22:19878103-19878103
12	KAT6B	NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu)	SNV	Uncertain Significance	487787	rs1554845417	GRCh37: 10:76788409-76788409 GRCh38: 10:75028651-75028651
13	TRPM1	NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu)	SNV	Uncertain Significance	487810	rs1555424877	GRCh37: 15:31360292-31360292 GRCh38: 15:31068089-31068089
14	CACNG2	NM_006078.5(CACNG2):c.541T>C (p.Tyr181His)	SNV	Uncertain Significance	487807	rs1555892196	GRCh37: 22:36960829-36960829 GRCh38: 22:36564782-36564782
15	NET1	NM_001047160.3(NET1):c.498G>T (p.Glu166Asp)	SNV	Uncertain Significance	487790	rs1554818513	GRCh37: 10:5494455-5494455 GRCh38: 10:5452492-5452492
16	ARHGAP32	NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser)	SNV	Uncertain Significance	487793	rs749174548	GRCh37: 11:128840363-128840363 GRCh38: 11:128970468-128970468
17	GON4L	NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp)	SNV	Uncertain Significance	487779	rs1553200563	GRCh37: 1:155742897-155742897 GRCh38: 1:155773106-155773106
18	TRAF3	NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg)	SNV	Uncertain Significance	487799	rs145456077	GRCh37: 14:103336591-103336591 GRCh38: 14:102870254-102870254
19	HSD3B2	NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln)	SNV	Uncertain Significance	487802	rs985808078	GRCh37: 1:119965128-119965128 GRCh38: 1:119422505-119422505
20	KREMEN2	NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val)	SNV	Uncertain Significance	487788	rs1210829529	GRCh37: 16:3016650-3016650 GRCh38: 16:2966649-2966649
21	POU3F4	NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu)	SNV	Uncertain Significance	487785	rs1555984638	GRCh37: X:82764345-82764345 GRCh38: X:83509337-83509337
22	SYNE1	NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)	SNV	Uncertain Significance	487805	rs1554520414	GRCh37: 6:152674554-152674554 GRCh38: 6:152353419-152353419
23	BANP	NM_001386991.1(BANP):c.692A>G (p.Asn231Ser)	SNV	Uncertain Significance	487782	rs1555586650	GRCh37: 16:88052070-88052070 GRCh38: 16:88018464-88018464
24	SH3TC2	NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs)	DEL	Uncertain Significance	487808	rs1554121513	GRCh37: 5:148406172-148406172 GRCh38: 5:149026609-149026609
25	SPRY3	NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys)	SNV	Uncertain Significance	487791	rs779201129	GRCh37: Y:59106594-59106594 GRCh38: X:155773926-155773926
26	OTUD5	NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr)	SNV	Uncertain Significance	487794	rs1295653938	GRCh37: X:48780465-48780465 GRCh38: X:48923188-48923188
27	GLB1	NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro)	SNV	Uncertain Significance	487803	rs1553604701	GRCh37: 3:33038668-33038668 GRCh38: 3:32997176-32997176
28	HDAC3	NM_003883.4(HDAC3):c.50_55+5del	DEL	Uncertain Significance	487780	rs1554218152	GRCh37: 5:141016298-141016308 GRCh38: 5:141636731-141636741
29	LETM1	NM_012318.3(LETM1):c.286G>A (p.Val96Met)	SNV	Uncertain Significance	487800	rs753905629	GRCh37: 4:1843382-1843382 GRCh38: 4:1841655-1841655
30	LATS1	NM_004690.4(LATS1):c.2365G>C (p.Asp789His)	SNV	Uncertain Significance	487797	rs750318192	GRCh37: 6:150001239-150001239 GRCh38: 6:149680103-149680103
31	ADGRA2	NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs)	DEL	Uncertain Significance	487806	rs1554525957	GRCh37: 8:37691223-37691241 GRCh38: 8:37833705-37833723
32	SUV39H1	NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys)	SNV	Uncertain Significance	487783	rs368779259	GRCh37: X:48558731-48558731 GRCh38: X:48700340-48700340
33	SLC39A11	NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe)	SNV	Uncertain Significance	487809	rs745762301	GRCh37: 17:70845779-70845779 GRCh38: 17:72849640-72849640
34	DEPDC5	NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter)	SNV	Uncertain Significance	487789	rs1555900957	GRCh37: 22:32241141-32241141 GRCh38: 22:31845155-31845155
35	PATZ1	NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr)	SNV	Uncertain Significance	487786	rs1555894069	GRCh37: 22:31741027-31741027 GRCh38: 22:31345041-31345041
36	MT-ND4	NC_012920.1:m.11032delA	DEL	Uncertain Significance	487804	rs1556423884	GRCh37: MT:11032-11032 GRCh38: MT:11032-11032

Sources

Expression for Clear Cell Ependymoma

Search GEO for disease gene expression data for Clear Cell Ependymoma.

Sources

Pathways for Clear Cell Ependymoma

Pathways related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ³	11.79	SYP RBFOX3 NF2 GFAP
2	Neural Stem Cells and Lineage-specific Markers ⁶⁵	10.82	VIM SYP OLIG2 GFAP

Sources

GO Terms for Clear Cell Ependymoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	astrocyte development	GO:0014002	9.62	VIM GFAP
2	Bergmann glial cell differentiation	GO:0060020	9.56	VIM GFAP
3	response to UV-B	GO:0010224	9.46	RELA MSH2
4	Schwann cell proliferation	GO:0014010	9.26	NF2 GFAP
5	intermediate filament-based process	GO:0045103	8.62	VIM GFAP

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

#	Name	GO ID	Score	Top Affiliating Genes
1	four-way junction DNA binding	GO:0000400	8.92	MSH2 MEN1

Sources

Sources for Clear Cell Ependymoma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CLR011 MIFTS: 36	Clear Cell Ependymoma Categories: Cancer diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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