Small-Cell Carcinoma of the Ovary of Hypercalcemic Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

MalaCards integrated aliases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

Name: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type ¹¹ ¹⁴

Small Cell Carcinoma of the Ovary, Hypercalcemic Type ⁵

Ovarian Small Cell Carcinoma, Hypercalcemic Type ⁷¹

Hypercalcemic Type Ovarian Small Cell Carcinoma ¹¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:7651

NCIt ⁴⁹ C40439

UMLS ⁷¹ C1518736

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Summaries for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Disease Ontology: ¹¹ An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia.

MalaCards based summary: Small-Cell Carcinoma of the Ovary of Hypercalcemic Type, also known as small cell carcinoma of the ovary, hypercalcemic type, is related to small cell carcinoma and ovarian small cell carcinoma, and has symptoms including abdominal pain An important gene associated with Small-Cell Carcinoma of the Ovary of Hypercalcemic Type is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and AMPK Enzyme Complex Pathway. The drug Lysine has been mentioned in the context of this disorder. Affiliated tissues include ovary, uterus and cervix, and related phenotype is Increased Nanog expression.

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Related Diseases for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)

#	Related Disease	Score	Top Affiliating Genes
1	small cell carcinoma	31.4	TP53 SMARCA4
2	ovarian small cell carcinoma	30.7	SMARCA4 SMARCA2 MSANTD2 ARID1A
3	juvenile type testicular granulosa cell tumor	30.6	SMARCA4 SMARCA2
4	atypical teratoid rhabdoid tumor	30.5	TP53 SMARCA4 SMARCA2
5	rhabdoid cancer	30.2	TP53 SMARCA4 SMARCA2 ARID1A
6	bap1 tumor predisposition syndrome	10.8
7	inherited cancer-predisposing syndrome	10.8
8	rare tumor	10.7
9	ovarian cancer	10.4
10	sarcoma	10.4
11	paine syndrome	10.3
12	endometrial cancer	10.3
13	rhabdoid tumor predisposition syndrome 1	10.3
14	rhabdoid tumor predisposition syndrome 2	10.3
15	li-fraumeni syndrome	10.3
16	small cell cancer of the lung	10.3
17	smith-magenis syndrome	10.3
18	down syndrome	10.3
19	ovarian cancer 1	10.3
20	pelvic inflammatory disease	10.3
21	serous cystadenocarcinoma	10.3
22	liposarcoma	10.3
23	uterine corpus sarcoma	10.3
24	pleomorphic liposarcoma	10.3
25	47 xxx syndrome	10.3
26	49, xxxxy syndrome	10.3
27	uterine sarcoma	10.3
28	malignant teratoma	10.2	TP53 SMARCA4
29	smarca4-deficient sarcoma of thorax	10.2	SMARCA4 SMARCA2
30	sinonasal undifferentiated carcinoma	10.2	SMARCA4 SMARCA2
31	atypical neurofibroma	10.2	TP53 SMARCA2
32	basan syndrome	10.2	SMARCA4 SMARCA2
33	adenofibroma	10.2	TP53 ARID1A
34	clear cell adenofibroma	10.2	SMARCA4 ARID1A
35	testicular granulosa cell tumor	10.1	SMARCA4 SMARCA2
36	alpha-thalassemia myelodysplasia syndrome	10.1	SMARCA4 SMARCA2
37	ovarian carcinosarcoma	10.1	TP53 ARID1A
38	ovarian clear cell adenocarcinoma	10.1	TP53 ARID1A
39	clear cell adenocarcinoma	10.1	TP53 ARID1A
40	papillary adenofibroma	10.1	SMARCA4 ARID1A
41	schimke immunoosseous dysplasia	10.1	SMARCA4 SMARCA2
42	floating-harbor syndrome	10.1	SMARCA4 SMARCA2
43	female reproductive endometrioid cancer	10.1	TP53 ARID1A
44	nasal cavity cancer	10.1	SMARCA4 SMARCA2
45	alpha thalassemia-x-linked intellectual disability syndrome	10.1	SMARCA4 SMARCA2
46	bartholin's gland adenoid cystic carcinoma	10.1	SMARCA2 ARID1A
47	developmental and epileptic encephalopathy 14	10.1	SMARCA4 SMARCA2
48	childhood medulloblastoma	10.1	TP53 SMARCA4
49	endometrial serous adenocarcinoma	10.1	TP53 ARID1A
50	large cell carcinoma with rhabdoid phenotype	10.0	TP53 SMARCA4 SMARCA2

Graphical network of the top 20 diseases related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

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Symptoms & Phenotypes for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

UMLS symptoms related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

abdominal pain

GenomeRNAi Phenotypes related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.02	ARID1A DPF1 SMARCA4
2	Increased Nanog expression	GR00371-A-3	9.02	ARID1A
3	Increased Nanog expression	GR00371-A-5	9.02	ARID1A

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Drugs & Therapeutics for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Drugs for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Lysine

Approved, Nutraceutical

56-87-1

5962

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Tazemetostat Expanded Access Program for Adults With Solid Tumors	Temporarily not available	NCT03874455		Tazemetostat

Search NIH Clinical Center for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

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Genetic Tests for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

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Anatomical Context for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Organs/tissues related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

MalaCards : Ovary, Uterus, Cervix, Breast, Heart

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Publications for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Articles related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

(show top 50) (show all 92)

#	Title	Authors	PMID	Year
1	Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations. ⁶²	Sanders BE...Brubaker LW	36249907	2022
2	Small Cell Carcinoma of Ovary, Hypercalcemic Type: A Rare Case Report. ⁶²	Coskun C...Kutluk T	36243275	2022
3	The value of SOX2 in the differential diagnosis of SMARCA4 (BRG1)-deficient uterine neoplasms. ⁶²	Zheng L...Zhang S	35331811	2022
4	In Vitro Effects of Mitochondria-Targeted Antioxidants in a Small-Cell Carcinoma of the Ovary of Hypercalcemic Type and in Type 1 and Type 2 Endometrial Cancer. ⁶²	Casteloa M...Rebelo I	35453550	2022
5	Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition. ⁶²	Simoes MFE...De Brot L	35200537	2022
6	Hereditary Gynecologic Cancer Syndromes - A Narrative Review. ⁶²	Kostov S...Yordanov A	35422633	2022
7	Case Report: A Durable Response to Camrelizumab and Apatinib Combination Therapy in a Heavily Treated Small Cell Carcinoma of the Ovary, Hypercalcemic Type. ⁶²	Li G...Jiang Y	35903699	2022
8	Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review. ⁶²	Pastorczak A...Trelinska J	33907931	2021
9	Histologic and genomic features of breast cancers with alterations affecting the SWI/SNF (SMARC) genes. ⁶²	Schwartz CJ...Wen HY	34079072	2021
10	Infrequent loss of SMARCA4, SMARCA2, and SMARCB1 expression in uterine mesenchymal tumors. ⁶²	Kihara A...Niki T	34271067	2021
11	Small Cell Carcinoma of the Ovary, Hypercalcemic Type, in a 12-Month-Old Girl. ⁶²	Atwi D...Yu Z	34047234	2021
12	SMARCA4 (BRG1) and SMARCB1 (INI1) expression in TTF-1 negative neuroendocrine carcinomas including merkel cell carcinoma. ⁶²	Gandhi JS...Gradowski JF	33581550	2021
13	Re-assigning the histologic identities of COV434 and TOV-112D ovarian cancer cell lines. ⁶²	Karnezis AN...Wang Y	33328126	2021
14	Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases. ⁶²	Holdhof D...Schuller U	33331994	2021
15	Reprogramming of Nucleotide Metabolism Mediates Synergy between Epigenetic Therapy and MAP Kinase Inhibition. ⁶²	Shorstova T...Witcher M	33087508	2021
16	Re-expression of SMARCA4/BRG1 in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) promotes an epithelial-like gene signature through an AP-1-dependent mechanism. ⁶²	Orlando KA...Weissman BE	33355532	2020
17	Dose-intensive regimen treatment for small-cell carcinoma of the ovary of hypercalcemic type (SCCOHT). ⁶²	Blanc-Durand F...Pautier P	32723678	2020
18	Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): Comprehensive management of a newly diagnosed young adult. ⁶²	Pressey JG...Szabo S	32654763	2020
19	Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines. ⁶²	Tischkowitz M...Weissman BE	32156746	2020
20	Arginine Depletion Therapy with ADI-PEG20 Limits Tumor Growth in Argininosuccinate Synthase-Deficient Ovarian Cancer, Including Small-Cell Carcinoma of the Ovary, Hypercalcemic Type. ⁶²	Ji JX...Huntsman DG	32409304	2020
21	Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis. ⁶²	Auguste A...Leary A	32575483	2020
22	Optimal age for genetic cancer predisposition testing in hereditary SMARCA4 Ovarian Cancer Families: How young is too young? ⁶²	Podwika SE...Modesitt SC	32382648	2020
23	Successful pregnancy following chemotherapy in a survivor of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): A case report and review of literature. ⁶²	Phoolcharoen N...Schmeler K	32405521	2020
24	Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. ⁶²	Connor YD...Shea M	31954538	2020
25	Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort. ⁶²	Saunders J...Bush J	31403913	2020
26	Combined CDK4/6 and PD-1 Inhibition in Refractory SMARCA4-Deficient Small-Cell Carcinoma of the Ovary, Hypercalcemic Type. ⁶²	Lee EK...Konstantinopoulos PA	32704608	2020
27	Small Cell Carcinoma of Ovary, Hypercalcemic Type (Malignant Rhabdoid Tumor of Ovary) with Loss of SMARCA4 (BRG1) Expression: Report of Two Cases. ⁶²	Sahay A...Deodhar KK	32149361	2020
28	The novel reversible LSD1 inhibitor SP-2577 promotes anti-tumor immunity in SWItch/Sucrose-NonFermentable (SWI/SNF) complex mutated ovarian cancer. ⁶²	Soldi R...Sharma S	32649682	2020
29	Mixed Serous and Clear Cell Adenocarcinoma of the Ovary Presenting with Symptomatic Hypercalcemia: A Case Report and Clinical Considerations. ⁶²	Boland JL...Shahbazi SZ	32069206	2020
30	[Pathological and molecular features of malignancies underlined by BAF complexes inactivation]. ⁶²	Le Quang M...Le Loarer F	31255411	2019
31	SMARCA4 inactivation defines a subset of undifferentiated uterine sarcomas with rhabdoid and small cell features and germline mutation association. ⁶²	Lin DI...Elvin JA	31190001	2019
32	Pembrolizumab-Induced Thyroiditis. ⁶²	Imblum BA...LiVolsi VA	31111437	2019
33	The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type. ⁶²	Pejovic T...Foulkes WD	30886884	2019
34	SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses. ⁶²	Perret R...Le Loarer F	30451731	2019
35	The ATPase module of mammalian SWI/SNF family complexes mediates subcomplex identity and catalytic activity-independent genomic targeting. ⁶²	Pan J...Kadoch C	30858614	2019
36	Ovarian small cell carcinoma in one of a pair of monozygous twins. ⁶²	Fahiminiya S...Foulkes WD	30284660	2019
37	CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary. ⁶²	Xue Y...Huang S	30718512	2019
38	An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings. ⁶²	Lu B...Shi H	30662543	2019
39	Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT): a challenge for clinicopathological diagnosis. ⁶²	Li R...Feng Z	31934039	2019
40	SWI/SNF Complexes in Ovarian Cancer: Mechanistic Insights and Therapeutic Implications. ⁶²	Fukumoto T...Zhang R	30037854	2018
41	Histone Deacetylase Inhibitors Synergize with Catalytic Inhibitors of EZH2 to Exhibit Antitumor Activity in Small Cell Carcinoma of the Ovary, Hypercalcemic Type. ⁶²	Wang Y...Huntsman DG	30232145	2018
42	Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type. ⁶²	David MP...Fisher KE	30275002	2018
43	SMARCA4-deficient undifferentiated uterine sarcoma (malignant rhabdoid tumor of the uterus): a clinicopathologic entity distinct from undifferentiated carcinoma. ⁶²	Kolin DL...Howitt BE	29700418	2018
44	Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Clinical and Imaging Review. ⁶²	Korivi BR...Prasad SR	28943050	2018
45	Two types of small cell carcinoma of the ovary: Two typical case reports. ⁶²	Yoshida Y...Kato K	30094313	2018
46	Immune-Active Microenvironment in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: Rationale for Immune Checkpoint Blockade. ⁶²	Jelinic P...Zamarin D	29365144	2018
47	Hereditary SWI/SNF complex deficiency syndromes. ⁶²	Agaimy A...Foulkes WD	29397238	2018
48	Cytological features of small cell carcinoma of the ovary-hypercalcemic type/malignant ovarian rhabdoid tumor in ascitic fluid. ⁶²	Lae M...Klijanienko J	29446248	2018
49	Ponatinib Shows Potent Antitumor Activity in Small Cell Carcinoma of the Ovary Hypercalcemic Type (SCCOHT) through Multikinase Inhibition. ⁶²	Lang JD...Trent JM	29440177	2018
50	Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT). ⁶²	Lang JD...Hendricks WPD	29423809	2018

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Genes for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Genes related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TP53	Tumor Protein P53	Protein Coding	25	Likely pathogenic ⁵
2	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	6.31	DISEASES inferred ¹⁴
3	MSANTD2	Myb/SANT DNA Binding Domain Containing 2	Protein Coding	5.27	DISEASES inferred ¹⁴
4	TMEM234	Transmembrane Protein 234	Protein Coding	4.9	DISEASES inferred ¹⁴
5	HOXD11	Homeobox D11	Protein Coding	4.87	DISEASES inferred ¹⁴
6	BCL7C	BAF Chromatin Remodeling Complex Subunit BCL7C	Protein Coding	4.86	DISEASES inferred ¹⁴
7	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	4.8	DISEASES inferred ¹⁴
8	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	4.75	DISEASES inferred ¹⁴
9	TBC1D21	TBC1 Domain Family Member 21	Protein Coding	4.74	DISEASES inferred ¹⁴
10	BCL7B	BAF Chromatin Remodeling Complex Subunit BCL7B	Protein Coding	4.72	DISEASES inferred ¹⁴
11	SS18L1	SS18L1 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	4.67	DISEASES inferred ¹⁴
12	DPF1	Double PHD Fingers 1	Protein Coding	4.61	DISEASES inferred ¹⁴

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Variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

ClinVar genetic disease variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TP53	NM_000546.6(TP53):c.594_611del (p.Gly199_Glu204del)	DEL	Likely Pathogenic	560921	rs1567551704	GRCh37: 17:7578238-7578255 GRCh38: 17:7674920-7674937
2	SMARCA4	NM_003072.5(SMARCA4):c.4533+6C>A	SNV	Not Provided	571659	rs1311909722	GRCh37: 19:11169045-11169045 GRCh38: 19:11058369-11058369

Cosmic variations for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type:

⁸ (show top 50) (show all 660)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM113486751	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1240A>C	p.K414Q	11:32396266-32396266	12
2	COSM91385090	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1240A>C	p.K414Q	11:32396266-32396266	12
3	COSM100783551	WT1	ovary,NS,carcinoma,small cell carcinoma	c.604A>C	p.K202Q	11:32396266-32396266	12
4	COSM111540839	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1189A>C	p.K397Q	11:32396266-32396266	12
5	COSM147428189	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1189A>C	p.K397Q	11:32396266-32396266	12
6	COSM130520647	WT1	ovary,NS,carcinoma,small cell carcinoma	c.553A>C	p.K185Q	11:32396266-32396266	12
7	COSM149741943	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1240A>C	p.K414Q	11:32396266-32396266	12
8	COSM148595596	WT1	ovary,NS,carcinoma,small cell carcinoma	c.1240A>C	p.K414Q	11:32396266-32396266	12
9	COSM105626718	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
10	COSM143944155	TP53	ovary,NS,carcinoma,small cell carcinoma	c.367C>T	p.R123W	17:7673776-7673776	12
11	COSM121876472	TP53	ovary,NS,carcinoma,small cell carcinoma	c.448C>T	p.R150W	17:7673776-7673776	12
12	COSM142841840	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
13	COSM111758876	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
14	COSM122739712	TP53	ovary,NS,carcinoma,small cell carcinoma	c.365T>A	p.I122N	17:7674202-7674202	12
15	COSM143157023	TP53	ovary,NS,carcinoma,small cell carcinoma	c.367C>T	p.R123W	17:7673776-7673776	12
16	COSM112259092	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
17	COSM143161659	TP53	ovary,NS,carcinoma,small cell carcinoma	c.284T>A	p.I95N	17:7674202-7674202	12
18	COSM121883167	TP53	ovary,NS,carcinoma,small cell carcinoma	c.365T>A	p.I122N	17:7674202-7674202	12
19	COSM142837558	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
20	COSM93189470	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
21	COSM106058857	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
22	COSM142565824	TP53	ovary,NS,carcinoma,small cell carcinoma	c.644T>A	p.I215N	17:7674202-7674202	12
23	COSM144087276	TP53	ovary,NS,carcinoma,small cell carcinoma	c.367C>T	p.R123W	17:7673776-7673776	12
24	COSM122277229	TP53	ovary,NS,carcinoma,small cell carcinoma	c.365T>A	p.I122N	17:7674202-7674202	12
25	COSM112253888	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
26	COSM143371151	TP53	ovary,NS,carcinoma,small cell carcinoma	c.727C>T	p.R243W	17:7673776-7673776	12
27	COSM144657689	TP53	ovary,NS,carcinoma,small cell carcinoma	c.644T>A	p.I215N	17:7674202-7674202	12
28	COSM87905212	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
29	COSM93184004	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
30	COSM143948714	TP53	ovary,NS,carcinoma,small cell carcinoma	c.284T>A	p.I95N	17:7674202-7674202	12
31	COSM122734401	TP53	ovary,NS,carcinoma,small cell carcinoma	c.448C>T	p.R150W	17:7673776-7673776	12
32	COSM144651445	TP53	ovary,NS,carcinoma,small cell carcinoma	c.727C>T	p.R243W	17:7673776-7673776	12
33	COSM145023609	TP53	ovary,NS,carcinoma,small cell carcinoma	c.644T>A	p.I215N	17:7674202-7674202	12
34	COSM144019250	TP53	ovary,NS,carcinoma,small cell carcinoma	c.728T>A	p.I243N	17:7674202-7674202	12
35	COSM106053444	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
36	COSM145017953	TP53	ovary,NS,carcinoma,small cell carcinoma	c.727C>T	p.R243W	17:7673776-7673776	12
37	COSM144091102	TP53	ovary,NS,carcinoma,small cell carcinoma	c.284T>A	p.I95N	17:7674202-7674202	12
38	COSM144310437	TP53	ovary,NS,carcinoma,small cell carcinoma	c.727C>T	p.R243W	17:7673776-7673776	12
39	COSM142560558	TP53	ovary,NS,carcinoma,small cell carcinoma	c.727C>T	p.R243W	17:7673776-7673776	12
40	COSM87898714	TP53	ovary,NS,carcinoma,small cell carcinoma	c.844C>T	p.R282W	17:7673776-7673776	12
41	COSM144013682	TP53	ovary,NS,carcinoma,small cell carcinoma	c.811C>T	p.R271W	17:7673776-7673776	12
42	COSM111764771	TP53	ovary,NS,carcinoma,small cell carcinoma	c.761T>A	p.I254N	17:7674202-7674202	12
43	COSM105620649	TP53	ovary,NS,carcinoma,small cell carcinoma	c.782+405C>T	p.?	17:7673776-7673776	12
44	COSM122271827	TP53	ovary,NS,carcinoma,small cell carcinoma	c.448C>T	p.R150W	17:7673776-7673776	12
45	COSM144314970	TP53	ovary,NS,carcinoma,small cell carcinoma	c.644T>A	p.I215N	17:7674202-7674202	12
46	COSM143376769	TP53	ovary,NS,carcinoma,small cell carcinoma	c.644T>A	p.I215N	17:7674202-7674202	12
47	COSM131034075	SMARCA4	ovary,NS,carcinoma,small cell carcinoma	c.2362C>T	p.Q788*	19:11013036-11013036	12
48	COSM148052745	SMARCA4	ovary,NS,carcinoma,small cell carcinoma	c.2275-1G>T	p.?	19:11012948-11012948	12
49	COSM151629014	SMARCA4	ovary,NS,carcinoma,small cell carcinoma	c.3546+1G>A	p.?	19:11030894-11030894	12
50	COSM151620795	SMARCA4	ovary,NS,carcinoma,small cell carcinoma	c.3496C>T	p.Q1166*	19:11030843-11030843	12

Sources

Expression for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Search GEO for disease gene expression data for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type.

Sources

Pathways for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Pathways related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin Regulation / Acetylation ³	12.02	SMARCA4 SMARCA2 ARID1A
2	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	11.8	SMARCA4 SMARCA2 ARID1A
3	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.46	TP53 SMARCA4 SMARCA2
4	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.34	SMARCA4 SMARCA2 ARID1A
5	Pathways affected in adenoid cystic carcinoma ⁷⁴	11.23	TP53 SMARCA2 ARID1A
6	Rett syndrome causing genes ⁷⁴	11.14	SMARCA4 SMARCA2
7	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	10.98	SMARCA4 SMARCA2 DPF1 ARID1A
8	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known ⁶⁶	10.91	SMARCA4 SMARCA2 ARID1A
9	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	10.66	SMARCA4 DPF1 ARID1A

Sources

GO Terms for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

Cellular components related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	10.34	TP53 SMARCA4 SMARCA2 HOXD11 DPF1 BCL7C
2	npBAF complex	GO:0071564	9.88	SMARCA4 SMARCA2 ARID1A
3	bBAF complex	GO:0140092	9.85	SMARCA4 SMARCA2 ARID1A
4	brahma complex	GO:0035060	9.76	SMARCA2 ARID1A
5	GBAF complex	GO:0140288	9.76	SMARCA4 SMARCA2 BCL7C BCL7B
6	SWI/SNF complex	GO:0016514	9.65	SMARCA4 SMARCA2 BCL7C BCL7B ARID1A
7	DNA packaging complex	GO:0044815	9.5	ARID1A SMARCA2 SMARCA4
8	SWI/SNF superfamily-type complex	GO:0070603	9.43	SMARCA4 SMARCA2 ARID1A
9	nBAF complex	GO:0071565	9.32	SS18L1 SMARCA4 SMARCA2 DPF1 ARID1A

Biological processes related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.41	ARID1A BCL7B BCL7C DPF1 HOXD11 SMARCA2
2	chromatin remodeling	GO:0006338	10.18	ARID1A BCL7B BCL7C DPF1 SMARCA2 SMARCA4
3	regulation of G1/S transition of mitotic cell cycle	GO:2000045	10.1	SMARCA4 SMARCA2 DPF1 BCL7C BCL7B ARID1A
4	positive regulation of stem cell population maintenance	GO:1902459	10.07	SMARCA4 SMARCA2 BCL7C BCL7B ARID1A
5	positive regulation of cell differentiation	GO:0045597	10.06	ARID1A DPF1 SMARCA2 SMARCA4
6	negative regulation of cell differentiation	GO:0045596	10.03	SMARCA4 SMARCA2 BCL7C BCL7B
7	positive regulation of double-strand break repair	GO:2000781	10.03	ARID1A BCL7B BCL7C DPF1 SMARCA2 SMARCA4
8	negative regulation of cell growth	GO:0030308	10.02	TP53 SMARCA4 SMARCA2
9	positive regulation of myoblast differentiation	GO:0045663	9.97	SMARCA4 SMARCA2 ARID1A
10	positive regulation of T cell differentiation	GO:0045582	9.95	SMARCA4 SMARCA2 ARID1A
11	regulation of mitotic metaphase/anaphase transition	GO:0030071	9.93	SMARCA4 SMARCA2 DPF1 BCL7C BCL7B ARID1A
12	chromatin organization	GO:0006325	9.92	SS18L1 SMARCA4 SMARCA2 ARID1A
13	transcription initiation-coupled chromatin remodeling	GO:0045815	9.86	TP53 ARID1A
14	nucleosome disassembly	GO:0006337	9.84	SMARCA4 ARID1A
15	regulation of nucleotide-excision repair	GO:2000819	9.73	ARID1A BCL7B BCL7C DPF1 SMARCA2 SMARCA4
16	regulation of G0 to G1 transition	GO:0070316	9.4	SMARCA4 SMARCA2 DPF1 BCL7C BCL7B ARID1A

Molecular functions related to Small-Cell Carcinoma of the Ovary of Hypercalcemic Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coactivator activity	GO:0003713	9.23	SS18L1 SMARCA4 SMARCA2 ARID1A

Sources

Sources for Small-Cell Carcinoma of the Ovary of Hypercalcemic Type

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: SML041 MIFTS: 39	Small-Cell Carcinoma of the Ovary of Hypercalcemic Type Categories: Cancer diseases, Endocrine diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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