Epithelioid Malignant Peripheral Nerve Sheath Tumor disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MalaCards integrated aliases for Epithelioid Malignant Peripheral Nerve Sheath Tumor:

Name: Epithelioid Malignant Peripheral Nerve Sheath Tumor ¹¹ ¹⁴ ¹⁶ ⁷¹

Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath ¹¹

Epithelioid Mpnst ¹¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:8353

NCIt ⁴⁹ C6561

SNOMED-CT ⁶⁸ 253093000

EFO ¹⁶ EFO_1000245

UMLS ⁷¹ C1321427

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Summaries for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MalaCards based summary: Epithelioid Malignant Peripheral Nerve Sheath Tumor, also known as malignant epithelioid neoplasm of the peripheral nerve sheath, is related to malignant peripheral nerve sheath tumor and neurofibromatosis. An important gene associated with Epithelioid Malignant Peripheral Nerve Sheath Tumor is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Regulation of nuclear beta catenin signaling and target gene transcription. The drugs Cyclophosphamide and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and liver, and related phenotypes are neoplasm and pigmentation

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Related Diseases for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Diseases related to Epithelioid Malignant Peripheral Nerve Sheath Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 306)

#	Related Disease	Score	Top Affiliating Genes
1	malignant peripheral nerve sheath tumor	31.3	SOX10 NF1 MYOG CD34
2	neurofibromatosis	30.9	SUZ12 SMARCB1 NF1
3	neurilemmoma	30.4	SOX10 SMARCB1 NF1 MLANA ENO2 CD34
4	neurofibroma	30.4	SOX10 NF1 MLANA CD34
5	medulloepithelioma	30.3	SMARCB1 MYOG ENO2
6	melanoma	30.3	SSX2 SOX10 NF1 MLANA EWSR1 ENO2
7	neurofibromatosis, type i	30.1	SUZ12 NF1 EWSR1 ENO2 CD34
8	connective tissue benign neoplasm	29.7	SOX10 NF1 MLANA EWSR1 ENO2 CD34
9	rhabdoid cancer	29.7	SSX2 SS18 SMARCB1 SMARCA4 EWSR1
10	sarcoma	29.6	SUZ12 SSX2 SS18 SMARCB1 MYOG EWSR1
11	neurilemmomatosis	29.5	SSX2 SS18 SOX10 SMARCB1 SMARCA4 NF1
12	epithelioid sarcoma	29.4	SSX2 SS18 SMARCB1 SMARCA4 EWSR1 CD34
13	neuroblastoma	29.4	SMARCA4 NF1 EWSR1 ENO2 CD34
14	ewing sarcoma	29.3	SSX2 SS18 SMARCB1 NF1 MYOG EWSR1
15	mesenchymal cell neoplasm	29.2	SSX2 SS18 SMARCB1 NF1 MYOG MLANA
16	gastrointestinal stromal tumor	29.2	SSX2 SS18 SOX10 NF1 MLANA EWSR1
17	neurofibromatosis-noonan syndrome	10.5
18	soft tissue sarcoma	10.4
19	conjunctival pigmentation	10.3	SOX10 MLANA
20	peripheral nerve schwannoma	10.3	SMARCB1 NF1
21	optic nerve sheath meningioma	10.3	SMARCB1 NF1
22	spinal cord melanoma	10.3	SOX10 MLANA
23	conjunctival nevus	10.3	NF1 MLANA
24	choroid cancer	10.3	NF1 MLANA
25	malignant dermis tumor	10.3	NF1 MLANA
26	cervix melanoma	10.3	SOX10 MLANA
27	vulvar melanoma	10.3	NF1 MLANA
28	malignant skin fibrous histiocytoma	10.3	NF1 MLANA
29	optic nerve neoplasm	10.3	SMARCB1 NF1
30	pericytoma with t(7;12)	10.3	SOX10 EWSR1
31	spinal canal and spinal cord meningioma	10.3	SMARCB1 NF1
32	spinal meningioma	10.3	SMARCB1 NF1
33	central nervous system angiosarcoma	10.3	SMARCB1 CD34
34	proliferative fasciitis	10.3	SMARCB1 CD34
35	neurofibroma of the esophagus	10.3	SOX10 CD34
36	retroperitoneal leiomyosarcoma	10.3	SMARCB1 CD34
37	acral lentiginous melanoma	10.2	NF1 MLANA
38	bone epithelioid hemangioma	10.2	ZNF444 EWSR1
39	epithelial-myoepithelial carcinoma	10.2	SOX10 EWSR1
40	epithelioid neurofibroma	10.2	NF1 CD34
41	cutaneous leiomyosarcoma	10.2	MLANA CD34
42	hepatic angiomyolipoma	10.2	MLANA CD34
43	intraneural perineurioma	10.2	SOX10 CD34
44	coffin-siris syndrome 1	10.2
45	thyroid cancer, nonmedullary, 1	10.2
46	chordoma	10.2
47	cervical cancer	10.2
48	rhabdoid tumor predisposition syndrome 1	10.2
49	angiosarcoma	10.2
50	sensorineural hearing loss	10.2

Graphical network of the top 20 diseases related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

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Symptoms & Phenotypes for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MGI Mouse Phenotypes related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	9.7	CD34 EWSR1 NF1 SMARCA4 SMARCB1 SOX10
2	pigmentation	MP:0001186	9.65	MLANA NF1 SMARCA4 SOX10 SUZ12
3	embryo	MP:0005380	9.5	MYOG NF1 SMARCA4 SMARCB1 SOX10 SS18
4	integument	MP:0010771	9.23	CD34 EWSR1 MLANA MYOG NF1 SMARCA4

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Drugs & Therapeutics for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Drugs for Epithelioid Malignant Peripheral Nerve Sheath Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

50-18-0, 6055-19-2

2907

2

Ifosfamide

Approved

Phase 2, Phase 3

3778-73-2

3690

3

Daunorubicin

Approved

Phase 2, Phase 3

20830-81-3

30323

4

Mechlorethamine

Approved, Investigational

Phase 2, Phase 3

51-75-2

4033

5

Doxorubicin

Approved, Investigational

Phase 2, Phase 3

23214-92-8

31703

Synonyms:

(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-a-L-lyxo-hexopyranoside

(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside

(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-α-L-lyxo-hexopyranoside

(8S-cis)-10-((3-Amino-2,3,6-trideoxy-a-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione

(8S-cis)-10-((3-Amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione

(8S-cis)-10-((3-Amino-2,3,6-trideoxy-α-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione

14-Hydroxydaunomycin

14-Hydroxydaunorubicine

ADM

ADR

Adriablastin

Adriablastine

Adriamycin

Adriamycin PFS

Adriamycin RDF

Adriamycin Semiquinone

Adriamycin®|Caelyx® (liposomal doxorubicin)|Doxil®|doxorubicin hydrochloride

Adriblastin

Adriblastina

Adriblastine

Adrimedac

Baxter brand OF doxorubicin hydrochloride

Bedford brand OF doxorubicin hydrochloride

Bristol-myers squibb brand OF doxorubicin hydrochloride

Caelyx

Cell pharm brand OF doxorubicin hydrochloride

Columbia brand OF doxorubicin hydrochloride

DM2

DOXIL

Doxo

Doxo cell

Doxo-cell

Doxolem

DOXORUBICIN

Doxorubicin HCl

Doxorubicin hexal

Doxorubicin hydrochloride

Doxorubicin NC

Doxorubicina

Doxorubicina [INN-Spanish]

Doxorubicina ferrer farm

Doxorubicina funk

Doxorubicina tedec

Doxorubicine

Doxorubicine [INN-French]

Doxorubicine baxter

Doxorubicinum

Doxorubicinum [INN-Latin]

Doxotec

Elan brand OF doxorubicin hydrochloride

Farmiblastina

Ferrer brand OF doxorubicin hydrochloride

Hexal brand OF doxorubicin hydrochloride

Hydrochloride, doxorubicin

HYDROXYDAUNORUBICIN

Kenfarma brand OF doxorubicin hydrochloride

Lemery brand OF doxorubicin hydrochloride

Medac brand OF doxorubicin hydrochloride

Myocet

Neocorp brand OF doxorubicin hydrochloride

NSC-123127

Onkodox

Onkoworks brand OF doxorubicin hydrochloride

Pfizer brand OF doxorubicin hydrochloride

Prasfarma brand OF doxorubicin hydrochloride

RDF Rubex

Resmycin

Ribodoxo

Ribosepharm brand OF doxorubicin hydrochloride

Rubex

Tedec meiji brand OF doxorubicin hydrochloride

Urokit doxo cell

Urokit doxo-cell

VALRUBICIN IMPURITY, DOXORUBICIN

6

Palifosfamide

Investigational

Phase 2, Phase 3

31645-39-3

100427

7

Anti-Bacterial Agents

Phase 2, Phase 3

8

Alkylating Agents

Phase 2, Phase 3

9

Antineoplastic Agents, Alkylating

Phase 2, Phase 3

10

Antibiotics, Antitubercular

Phase 2, Phase 3

11

Liposomal doxorubicin

Phase 2, Phase 3

12

Lysine

Approved, Nutraceutical

56-87-1

5962

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754)	Active, not recruiting	NCT02180867	Phase 2, Phase 3	Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
2	Tazemetostat Expanded Access Program for Adults With Solid Tumors	Temporarily not available	NCT03874455		Tazemetostat

Search NIH Clinical Center for Epithelioid Malignant Peripheral Nerve Sheath Tumor

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Genetic Tests for Epithelioid Malignant Peripheral Nerve Sheath Tumor

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Anatomical Context for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Organs/tissues related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

MalaCards : Thyroid, Breast, Liver

Sources

Publications for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Articles related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

(show top 50) (show all 60)

#	Title	Authors	PMID	Year
1	Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart. ⁶²	Agaram NP...Antonescu CR	36414547	2022
2	S100-negative epithelioid malignant peripheral nerve sheath tumor with possible perineurial differentiation. ⁶²	Yamashita K...Takeuchi K	34635937	2022
3	Epithelioid Malignant Peripheral Nerve Sheath Tumor in the Liver: Report of a Rare Unusual Case with Rhabdoid Morphology and Review of the Literature. ⁶²	Van Treeck BJ...Yasir S	35223119	2022
4	A novel BRD4-LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expression. ⁶²	Barresi S...Alaggio R	34041805	2021
5	Cytomorphologic Spectrum of SMARCB1-Deficient Soft Tissue Neoplasms. ⁶²	Schaefer IM...Qian X	33608696	2021
6	SWI/SNF complex-deficient soft tissue neoplasms: An update. ⁶²	Schaefer IM...Hornick JL	32646614	2021
7	A case of INI1-deficient tumor in the forearm successfully diagnosed as epithelioid malignant peripheral nerve sheath tumor: Intratumoral nerve fibers with Wallerian degeneration as a diagnostic aid. ⁶²	Yamada Y...Haga H	33559197	2021
8	A Rare Case of Epithelioid Malignant Peripheral Nerve Sheath Tumor Mimicking Malignant Melanoma. ⁶²	Biglow LR...Dotson J	33763318	2021
9	Vaginal epithelioid malignant peripheral nerve sheath tumor nearly misdiagnosed as advanced cervical cancer: A case report. ⁶²	Guzin K...Sandal K	33360976	2021
10	A rare case of malignant vagus nerve sheath tumor presenting with multiple cranial nerve dysfunction in a dog. ⁶²	Giraud L...Cauzinille L	33012818	2020
11	Primary pulmonary epithelioid malignant peripheral nerve sheath tumor in a child: a case report. ⁶²	Zhang M...Gao S	32355847	2020
12	Epithelioid malignant peripheral nerve sheath tumor arising in schwannoma. ⁶²	Heatley N...Thway K	32913618	2020
13	Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review. ⁶²	Du P...Zeng JS	31452784	2019
14	Epithelioid Malignant Peripheral Nerve Sheath Tumor (Epithelioid-MPNST) Presenting as Bleeding Rectal Polyp: A Case Report with Systematic Literature Review. ⁶²	Patra S...Samal SC	31399553	2019
15	[Epithelioid malignant peripheral nerve sheath tumor: report of a case]. ⁶²	Wei LS...Liu ZJ	31422602	2019
16	Proximal-Type Epithelioid Sarcoma in Skull Base: a Pathological Diagnosis Challenge with Other Intracranial Tumors. ⁶²	Zejun D...Xueling Q	29076075	2019
17	SMARCB1-deficient Tumors of Childhood: A Practical Guide. ⁶²	Pawel BR	29280680	2018
18	Clinicopathologic features and immunohistochemical spectrum of 11 cases of epithelioid malignant peripheral nerve sheath tumors, including INI1/SMARCB1 results and BRAF V600E analysis. ⁶²	Rekhi B...Dervisoglu S	28452074	2017
19	SMARCB1/INI1 Loss in Epithelioid Schwannoma: A Clinicopathologic and Immunohistochemical Study of 65 Cases. ⁶²	Jo VY...Fletcher CDM	28368924	2017
20	Metastatic Epithelioid Malignant Peripheral Nerve Sheath Tumor in a Known Case of Neurofibromatosis-1, Cytomorphological Appearance, and Critical Analysis of Immunohistochemistry. ⁶²	Gupta RK...Das A	29200699	2017
21	Cutaneous Malignant Peripheral Nerve Sheath Tumor. ⁶²	Luzar B...Falconieri G	28477884	2017
22	Methylation-based classification of benign and malignant peripheral nerve sheath tumors. ⁶²	Rohrich M...Reuss DE	26857854	2016
23	Fine-needle aspiration cytology of epithelioid malignant peripheral nerve sheath tumor: A case report and review of the literature. ⁶²	Jiwani S...Jeffus S	26646298	2016
24	Secondary Neoplasms in Children with Hodgkin's Lymphoma Receiving C-MOPP and Radiotherapy: Presentation of Four Cases. ⁶²	Gozdasoglu S...Cavdar A	26377258	2016
25	Diagnostically Challenging Epithelioid Soft Tissue Tumors. ⁶²	James AW...Dry SM	26297059	2015
26	Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases. ⁶²	Jo VY...Fletcher CD	25602794	2015
27	A misdiagnosed melanoma: a case of cutaneous epithelioid malignant peripheral nerve sheath tumor. ⁶²	Linos K...Warren S	25933073	2015
28	Huge epithelioid malignant peripheral nerve sheath tumor in the left axilla: a case report. ⁶²	Kusumoto E...Momosaki S	26366361	2015
29	Benign epithelioid peripheral nerve sheath tumour resembling schwannoma. ⁶²	Krishnamurthy T...Niveditha SR	25500523	2014
30	Malignant epithelioid peripheral nerve sheath tumor with prominent reticular/microcystic pattern in a child: a low-grade neoplasm with 18-years follow-up. ⁶²	Agaimy A...Holter W	21768875	2014
31	[Metastases to the breast from non-mammary malignancies: a clinicopathologic study of 28 cases]. ⁶²	Zhou S...Yang W	24915812	2014
32	Selected topics in the pathology of epithelioid soft tissue tumors. ⁶²	Folpe AL	24384854	2014
33	Rapidly progressive epithelioid malignant peripheral nerve sheath tumor of the vestibular nerve. ⁶²	Kuzmik GA...Bulsara KR	23988994	2013
34	Conventional spindle cell-type malignant peripheral nerve sheath tumor arising in a sporadic schwannoma. ⁶²	Endo M...Oda Y	24007690	2013
35	Clinicopathological features, diagnosis and treatment of clear cell sarcoma/melanoma of soft parts. ⁶²	Mavrogenis A...Ruggieri P	25031505	2013
36	Sporadic superficial diffuse neurofibromas with repeated local recurrence over many years and a tendency toward malignant change: a report of 3 cases. ⁶²	Evans HL	23648456	2013
37	A small intraneural epithelioid malignant peripheral nerve sheath tumour of the median nerve simulating a benign lesion: description of a case and review of the literature. ⁶²	Corradi D...Giannini C	21197591	2012
38	Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. ⁶²	Carter JM...Folpe AL	22082606	2012
39	Epithelioid malignant peripheral nerve sheath tumor of the uterine corpus. ⁶²	Gulati N...Jambhekar NA	20952276	2011
40	Epithelioid Lesions. ⁶²	Deyrup AT	26837652	2011
41	Advanced epithelioid malignant peripheral nerve sheath tumor showing complete response to combined surgery and chemotherapy: a case report. ⁶²	Minagawa T...Takahashi H	22606446	2011
42	Malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation. ⁶²	Tanas MR...Rubin BP	21139905	2009
43	Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. ⁶²	Hornick JL...Fletcher CD	19033866	2009
44	Concurrent epithelioid malignant peripheral nerve sheath tumor and papillary thyroid carcinoma in the treated field of Hodgkin's disease. ⁶²	Yildirim G...El-Naggar AK	17972308	2008
45	Epithelioid malignant peripheral nerve sheath tumor in the infraorbital nerve. ⁶²	Prescott DK...Ng JD	16550070	2006
46	Osteoclast-rich tumor of the gastrointestinal tract with features resembling those of clear cell sarcoma of soft parts. ⁶²	Huang W...Zhou X	16220298	2006
47	Epithelioid malignant peripheral nerve sheath tumor involving maxillary sinus. ⁶²	Izycka-Swieszewska E...Jaskiewicz K	16382783	2005
48	Epithelioid malignant peripheral nerve sheath tumor. Report of a case with inflammatory infiltration. ⁶²	Matsuda Y...Imaida K	15991844	2005
49	Immunohistochemical diagnosis of a rare case of epithelioid malignant peripheral nerve sheath tumor with multiple metastases. ⁶²	Tsuchiya D...Yamashita H	15592781	2004
50	[Epithelioid malignant peripheral nerve sheath tumor. A case report]. ⁶²	Soualhi M...El Fassy Fihry MT	15107669	2004

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Genes for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Genes related to Epithelioid Malignant Peripheral Nerve Sheath Tumor (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	8.04	DISEASES inferred ¹⁴
2	SOX10	SRY-Box Transcription Factor 10	Protein Coding	6.58	DISEASES inferred ¹⁴
3	MLANA	Melan-A	Protein Coding	6.43	DISEASES inferred ¹⁴
4	NF1	Neurofibromin 1	Protein Coding	6.22	DISEASES inferred ¹⁴
5	SS18	SS18 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	6.21	DISEASES inferred ¹⁴
6	ZNF444	Zinc Finger Protein 444	Protein Coding	5.85	DISEASES inferred ¹⁴
7	EWSR1	EWS RNA Binding Protein 1	Protein Coding	5.83	DISEASES inferred ¹⁴
8	SSX2	SSX Family Member 2	Protein Coding	5.82	DISEASES inferred ¹⁴
9	CD34	CD34 Molecule	Protein Coding	5.8	DISEASES inferred ¹⁴
10	MYOG	Myogenin	Protein Coding	5.73	DISEASES inferred ¹⁴
11	TLE1	TLE Family Member 1, Transcriptional Corepressor	Protein Coding	5.59	DISEASES inferred ¹⁴
12	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	5.53	DISEASES inferred ¹⁴
13	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	5.39	DISEASES inferred ¹⁴
14	ENO2	Enolase 2	Protein Coding	5.32	DISEASES inferred ¹⁴

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Variations for Epithelioid Malignant Peripheral Nerve Sheath Tumor

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Expression for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Search GEO for disease gene expression data for Epithelioid Malignant Peripheral Nerve Sheath Tumor.

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Pathways for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Pathways related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin Regulation / Acetylation ³	11.43	SUZ12 SS18 SMARCB1 SMARCA4 EWSR1
2	Regulation of nuclear beta catenin signaling and target gene transcription ⁶¹	11.19	TLE1 SMARCA4 MYOG
3	EGR2 and SOX10-mediated initiation of Schwann cell myelination ⁶⁶	10.77	SOX10 SMARCA4
4	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	10.66	SUZ12 SMARCB1 SMARCA4
5	Validated nuclear estrogen receptor beta network ⁶¹	10.43	SMARCB1 SMARCA4

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GO Terms for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Cellular components related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GBAF complex	GO:0140288	9.67	SS18 SMARCA4
2	bBAF complex	GO:0140092	9.62	SMARCB1 SMARCA4
3	SWI/SNF complex	GO:0016514	9.43	SS18 SMARCB1 SMARCA4
4	DNA packaging complex	GO:0044815	9.26	SMARCB1 SMARCA4
5	SWI/SNF superfamily-type complex	GO:0070603	9.16	SMARCB1 SMARCA4
6	npBAF complex	GO:0071564	9.1	SS18 SMARCB1 SMARCA4

Biological processes related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell differentiation	GO:0045596	9.8	SUZ12 SS18 SMARCA4
2	RNA polymerase I preinitiation complex assembly	GO:0001188	9.73	SMARCB1 SMARCA4
3	positive regulation of stem cell population maintenance	GO:1902459	9.73	SS18 SMARCB1 SMARCA4
4	positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	GO:1901838	9.71	SMARCB1 SMARCA4
5	negative regulation of Schwann cell proliferation	GO:0010626	9.67	SOX10 NF1
6	positive regulation of myoblast differentiation	GO:0045663	9.63	SMARCB1 SMARCA4 MYOG
7	oligodendrocyte differentiation	GO:0048709	9.43	SUZ12 SOX10 NF1
8	positive regulation of glucose mediated signaling pathway	GO:1902661	8.92	SMARCB1 SMARCA4

Molecular functions related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription activator activity	GO:0001216	9.33	SOX10 MYOG
2	Tat protein binding	GO:0030957	9.26	SMARCB1 SMARCA4
3	RNA polymerase I core promoter sequence-specific DNA binding	GO:0001164	8.92	SMARCB1 SMARCA4

Sources

Sources for Epithelioid Malignant Peripheral Nerve Sheath Tumor

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: EPT008 MIFTS: 35	Epithelioid Malignant Peripheral Nerve Sheath Tumor Categories: Cancer diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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