MCID: BSL006
MIFTS: 52

Basaloid Squamous Cell Carcinoma malady

Cancer diseases category

Summaries for Basaloid Squamous Cell Carcinoma

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. it has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma.

MalaCards: Basaloid Squamous Cell Carcinoma, also known as basaloid carcinoma, is related to squamous cell carcinoma and basal cell carcinoma. An important gene associated with Basaloid Squamous Cell Carcinoma is B3GAT1 (beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)), and among its related pathways are Glioma and Adhesion. The compounds butyrate and estrogen have been mentioned in the context of this disorder. Affiliated tissues include lung, cervix and skin, and related mouse phenotypes are homeostasis/metabolism and embryogenesis.

Aliases & Classifications for Basaloid Squamous Cell Carcinoma

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8Disease Ontology, 60UMLS, 39NCIt, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

basaloid squamous cell carcinoma 8 60
basaloid carcinoma 8 60


External Ids:

Disease Ontology8 DOID:5522
SNOMED-CT56 128634009
NCIt39 C54244

Related Diseases for Basaloid Squamous Cell Carcinoma

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17GeneCards, 18GeneDecks
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Diseases related to Basaloid Squamous Cell Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 203)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma31.9TP63, CEACAM7, BCL2L1, ENG, KRT14, KRT4
2basal cell carcinoma30.9TP63, MKI67, BAX
3adenoid cystic carcinoma30.8TP63, KRT14, PCNA, CDH1, MKI67, CTNNA1
4laryngeal squamous cell carcinoma30.8TP63, BIRC5, PCNA, CDH1, CDKN2A, MKI67
5tonsillitis30.6CD79A
6nasopharynx carcinoma30.6CD79A, CDH1, CDKN2A
7bladder carcinoma30.6BIRC5, CDH1, CDKN2A, MKI67, CTNNA1
8osteosarcoma30.3BIRC5, GJA1, CDKN2A, MYC, BAX
9cervical squamous cell carcinoma30.3TP63, KRT14, CDKN1B, CDKN2A, MKI67
10papilloma30.3TP63, ENG, KRT14, GJA1, PCNA, CDKN1B
11lung small cell carcinoma30.3TP63, CEACAM7, KRT14, CDKN2A, MYC, BAX
12papillary carcinoma30.3TP63, KRT14, CDKN1B, CDH1, MKI67, S100A1
13mucoepidermoid carcinoma30.3TP63, KRT14, PCNA, CDKN1B, MKI67, CTNNA1
14adenocarcinoma30.3TP63, CEACAM7, BCL2L1, ENG, KRT14, KRT4
15prostatitis30.0CD79A
16esophagus squamous cell carcinoma10.9
17esophageal basaloid squamous cell carcinoma10.6
18basaloid lung carcinoma10.6
19adenoid squamous cell carcinoma10.6
20adenoiditis10.6
21lung squamous cell carcinoma10.6
22small cell carcinoma10.6
23laryngeal carcinoma10.6
24laryngitis10.6
25cervical basaloid squamous cell carcinoma10.5
26basaloid squamous cell skin carcinoma10.5
27maxillary sinus squamous cell carcinoma10.5
28esophagitis10.5
29vulvar basaloid squamous cell carcinoma10.4
30trachea squamous cell carcinoma10.4
31bladder squamous cell carcinoma10.4
32skin squamous cell carcinoma10.4
33thymus basaloid carcinoma10.3
34squamous cell papilloma10.3
35sphenoid sinus squamous cell carcinoma10.3
36bone carcinoma10.3
37penis basaloid carcinoma10.3
38anus basaloid carcinoma10.3
39laryngeal small cell carcinoma10.3
40papillary squamous carcinoma10.3
41trigonitis10.3
42pleomorphic carcinoma10.3
43penile neoplasm10.3
44penis papillary carcinoma10.3
45nasal cavity squamous cell carcinoma10.3
46spindle cell carcinoma10.3
47renal pelvis squamous cell carcinoma10.3
48eccrine porocarcinoma10.3
49anal squamous cell carcinoma10.3
50cervicitis10.3

Graphical network of the top 20 diseases related to Basaloid Squamous Cell Carcinoma:



Diseases related to basaloid squamous cell carcinoma

Clinical Features for Basaloid Squamous Cell Carcinoma

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Drugs & Therapeutics for Basaloid Squamous Cell Carcinoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Basaloid Squamous Cell Carcinoma

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Anatomical Context for Basaloid Squamous Cell Carcinoma

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32MalaCards
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MalaCards organs/tissues related to Basaloid Squamous Cell Carcinoma:

32
Lung, Cervix, Skin, Tonsil, Trachea, Bone, Lymph node

Animal Models for Basaloid Squamous Cell Carcinoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Basaloid Squamous Cell Carcinoma:

36 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.1CD79A, GJA1, KRT14
2MP:00053809.9GJA1, ENG, TP63
3MP:00053919.8GJA1, KRT4, KRT14
4MP:00053779.6SLC12A2, GJA1, CDKN1B
5MP:00053699.3CTNNA1, BAX, MYC, CDKN2A, GJA1, ENG
6MP:00053889.1BAX, CDKN1B, GJA1, KRT14, ENG, TP63
7MP:00053829.1CTNNA1, MYC, CDKN1B, GJA1, KRT4, ENG
8MP:00036318.8BAX, MYC, B3GAT1, GJA1, SLC12A2, BCL2L1
9MP:00030128.7MYC, CDKN2A, CDH1, CD79A, CDKN1B, PCNA
10MP:00053818.6MYC, CDKN2A, CDH1, CDKN1B, SLC12A2, KRT4
11MP:00053798.6CTNNA1, BAX, MYC, CDKN2A, CDKN1B, SLC12A2
12MP:00020068.5CTNNA1, MYC, CDKN2A, CDH1, CDKN1B, KRT14
13MP:00028738.5S100A1, MYC, CDH1, CD79A, GJA1, BIRC5
14MP:00053908.4CTNNA1, BAX, MYC, GJA1, SLC12A2, TP63
15MP:00107718.3CTNNA1, MYC, CDKN2A, CDH1, CDKN1B, GJA1
16MP:00053858.1S100A1, CTNNA1, MYC, CDH1, CDKN1B, GJA1
17MP:00053897.9BAX, MYC, CDKN2A, CDH1, CDKN1B, PCNA
18MP:00053977.9BAX, MYC, CDKN2A, CD79A, CDKN1B, PCNA
19MP:00053867.6S100A1, BAX, MYC, CDKN2A, CDKN1B, B3GAT1
20MP:00053877.4CD79A, CDH1, CDKN2A, MYC, BAX, CDKN1B
21MP:00053847.0TP63, CTNNA1, BAX, MYC, CDKN2A, CDH1
22MP:00053787.0CDH1, CDKN2A, MYC, BAX, CTNNA1, CDKN1B
23MP:00107686.6CDKN1B, CDH1, CDKN2A, MYC, BAX, CTNNA1

Publications for Basaloid Squamous Cell Carcinoma

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50PubMed
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Articles related to Basaloid Squamous Cell Carcinoma:

(show top 50)    (show all 150)
idTitleAuthorsYear
1
Basaloid squamous cell carcinoma of the oropharynx: an analysis of 650 cases. (23386625)
2013
2
Clinicopathological analysis of basal cell carcinoma of the anal region and its distinction from basaloid squamous cell carcinoma. (23599161)
2013
3
Basaloid squamous cell carcinoma and petrous bone. (23598694)
2013
4
Clinical outcomes of basaloid squamous cell carcinoma of the esophagus: a retrospective analysis of 142 cases. (23679289)
2013
5
Basaloid squamous cell carcinoma of the esophagus. (22419439)
2012
6
Basaloid squamous cell carcinoma of the tonsil: report of a case and review of the literature. (23788927)
2012
7
Array CGH analysis of the rare laryngeal basaloid squamous cell carcinoma: a case report. (23071866)
2012
8
Basaloid squamous cell carcinoma of nasopharynx: an extremely rare variety of tumour of nasopharynx. (22187772)
2011
9
Basaloid squamous cell carcinoma of the upper aerodigestive tract: a single squamous cell carcinoma subtype or two distinct entities hiding under one histologic pattern? (21125290)
2011
10
Common genomic aberrations in basaloid squamous cell carcinoma and carcinosarcoma of the esophagus detected by CGH and array CGH. (21411780)
2011
11
Basaloid squamous cell carcinoma with 'monster' cells: a mimic of pleomorphic basal cell carcinoma. (21039745)
2011
12
Basaloid squamous cell carcinoma of the head and neck: report of 18 cases. (21450130)
2011
13
Angiogenin expression in head and neck basaloid and conventional squamous cell carcinoma: a site- and stage-matched comparison. (20923443)
2011
14
Basaloid squamous cell carcinoma of the head and neck: role of HPV and implication in treatment and prognosis. (20876315)
2010
15
Cytomorphologic diagnosis of basaloid squamous cell carcinoma: a case report. (19248560)
2009
16
Histological diversity in basaloid squamous cell carcinoma of the esophagus. (18847449)
2009
17
Basaloid squamous cell carcinoma of the head and neck is a mixed variant that can be further resolved by HPV status. (18496144)
2008
18
A clinicopathologic study on basaloid squamous cell carcinoma in the oral and maxillofacial region. (18632253)
2008
19
A rare nasal tip skin metastasis of a basaloid squamous cell carcinoma of the larynx. (18724953)
2008
20
Basaloid squamous cell carcinoma arising in [corrected] the renal pelvis. (18417681)
2008
21
Basaloid squamous cell carcinoma of the head and neck: a clinicopathological and follow-up study of 40 cases and review of the literature. (20614328)
2008
22
Basaloid squamous cell carcinoma of the lung: a rare tumour with a rare clinical presentation. (17328988)
2007
23
Is there an epidemiological link between human papillomavirus DNA and basaloid squamous cell carcinoma of the pharynx? (16979930)
2007
24
Metastatic basaloid-squamous cell carcinoma of the esophagus treated by 5-fluorouracil and cisplatin. (17659717)
2007
25
Basaloid squamous cell carcinoma of the uterine cervix with an uncommon metastasis to the left iliac region--case report. (17290600)
2006
26
Eccrine porocarcinoma of the ear mimicking basaloid squamous cell carcinoma. (16815204)
2006
27
Endoglin (CD105) expression in head and neck basaloid squamous cell carcinoma. (15966703)
2005
28
p63 Immunohistochemistry in the distinction of adenoid cystic carcinoma from basaloid squamous cell carcinoma. (15529180)
2005
29
Basaloid squamous cell carcinoma versus basal cell adenocarcinoma of the oral cavity. (16373238)
2005
30
Basaloid squamous cell carcinoma of the head and neck. (15167048)
2004
31
Basaloid squamous cell carcinoma report of a case and review of literature. (15164662)
2003
32
Basaloid squamous cell carcinoma of the maxilla: a case report and immunohistochemical analysis. (12126001)
2002
33
Basaloid squamous cell carcinoma of the head and neck. (10983946)
2000
34
An isolated digital metastasis of esophageal basaloid squamous cell carcinoma. (10885705)
2000
35
Basaloid squamous cell carcinoma of the supraglottic larynx. (10839489)
2000
36
Basaloid squamous cell carcinoma of the larynx. (10547488)
1999
37
Metastatic laryngeal basaloid squamous cell carcinoma simulating primary small cell carcinoma of the lung on fine needle aspiration lung biopsy. A case report. (9622708)
1998
38
Distinction of basaloid squamous cell carcinoma from adenoid cystic and small cell undifferentiated carcinoma by immunohistochemistry. (9635682)
1998
39
Basaloid squamous cell carcinoma: a distinctive human papilloma virus-related penile neoplasm: a report of 20 cases. (9630184)
1998
40
The pathomorphology of a human xenotransplanted basaloid squamous cell carcinoma. (9890663)
1998
41
Basaloid squamous cell carcinoma of the esophagus: diagnosis and prognosis. (9149011)
1997
42
Basaloid squamous cell carcinoma of the esophagus metastatic to the gingiva: a case report. (9159819)
1997
43
Basaloid squamous cell carcinoma of the head and neck: clinicopathological features and differential diagnosis. (8546432)
1996
44
Basaloid-squamous cell carcinoma of the bronchus. Report of a case with review of the literature. (7503668)
1995
45
Basaloid squamous cell carcinoma of the larynx. (8719591)
1995
46
Basaloid squamous cell carcinoma of the head and neck with a spindle cell component. An unusual histologic variant. (7848067)
1995
47
Basaloid carcinoma and keratinizing squamous cell carcinoma of the vulva: a case of two primary carcinomas. (8572644)
1995
48
Basaloid squamous cell carcinoma of the head and neck: a clinicopathologic and flow cytometric study of 10 new cases with review of the English literature. (8024109)
1994
49
Basaloid squamous cell carcinoma of floor of mouth. (7691390)
1993
50
Radiotherapy for basaloid squamous cell carcinoma of the head and neck. (8491589)
1993

Genetic Variations for Basaloid Squamous Cell Carcinoma

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Expression for genes affiliated with Basaloid Squamous Cell Carcinoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Basaloid Squamous Cell Carcinoma

Search GEO for disease gene expression data for Basaloid Squamous Cell Carcinoma.

Pathways for genes affiliated with Basaloid Squamous Cell Carcinoma

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29KEGG, 4Cell Signaling Technology, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems, 12EMD Millipore, 53Reactome
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Pathways related to Basaloid Squamous Cell Carcinoma according to GeneCards/GeneDecks:

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2MYC
29.8GJA1, CDH1, CTNNA1
39.7CDKN1B, CDKN2A, MYC
49.7BAX, MYC, BIRC5
59.5BIRC5, CDH1, MYC, CTNNA1
69.5CTNNA1, MYC, CDH1, BIRC5
7
Hide members
9.5BAX, MYC, CDKN1B, BIRC5
89.5BCL2L1, CDKN1B, MYC
99.5BCL2L1, CDKN1B, MYC
10
Apoptosis and survival Apoptotic TNF-family pathways
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9.5BAX, BIRC5, BCL2L1
119.5BCL2L1, BIRC5, BAX
12
Hide members
9.4MYC, CD79A, BCL2L1
13
Hide members
9.4CDKN1B, CDKN2A, MYC, BAX
14
Hide members
9.4BAX, MYC, CDKN2A, CDKN1B
159.3PCNA, CDKN1B, MYC, BAX
16
Hide members
9.3CDKN2A, CDH1, CDKN1B, PCNA
179.3BAX, MYC, CDKN2A, TP63
18
Cell cycle Cell cycle (generic schema)
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9.3PCNA, CDKN1B, CDKN2A, MYC
19
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9.3MYC, CDKN2A, CDKN1B, PCNA
20
Hide members
9.2BCL2L1, CDKN1B, CDKN2A, MYC
219.2BAX, MYC, BIRC5, BCL2L1
22
Hide members
9.1BIRC5, PCNA, CDKN1B, MYC, BAX
23
Hide members
8.9CTNNA1, BAX, MYC, CDH1, BCL2L1
24
Hide members
8.9BAX, MYC, CDKN2A, BIRC5, BCL2L1
25
Hide members
8.8CTNNA1, BAX, MYC, CDH1, PCNA, BIRC5
26
Hide members
8.8BCL2L1, PCNA, CDKN1B, MYC, BAX
27
Hide members
8.7CTNNA1, BAX, MYC, CDH1, CDKN1B, BCL2L1
288.7BAX, MYC, CDKN2A, PCNA, BCL2L1
29
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8.6MKI67, CDKN2A, CDKN1B, PCNA, TP63
308.2BCL2L1, CTNNA1, BAX, MYC, CDKN2A, CDH1

Compounds for genes affiliated with Basaloid Squamous Cell Carcinoma

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Basaloid Squamous Cell Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 172)
idCompoundScoreTop Affiliating Genes
1butyrate4410.6CEACAM7
2estrogen4410.3CEACAM7, CD79A
3cycloheximide4410.3CEACAM7, GJA1
4depsipeptide4410.2CDH1, CDKN2A
5lipofectamine449.9MYC, BIRC5, CDKN1B, GJA1
6etoposide44 49 59 1112.4BCL2L1, CDH1, BAX, CDKN1B, GJA1
7p005449.4CTNNA1, MKI67, ENG, TP63
8indole-3-carbinol449.3CDH1, BAX, BIRC5, BCL2L1, CDKN1B
9norcantharidin449.2PCNA, MKI67, BAX, BIRC5
10mucicarmine449.2S100A1, KRT14, CEACAM7, TP63
11b 723449.1S100A1, PCNA, TP63, CEACAM7, CDH1
12suberoylanilide hydroxamic acid449.1CDH1, MYC, BIRC5, BCL2L1, BAX
13acridine449.1PCNA, BCL2L1, BIRC5, BAX
14sulindac44 1110.1BAX, CDH1, BIRC5, BCL2L1, PCNA
15vincristine44 49 1111.1BAX, MKI67, BCL2L1, MYC
16p00001449.1BIRC5, CDKN2A, CDH1, MKI67, CDKN1B, CTNNA1
17agar449.0CDH1, BIRC5, CDKN1B, ENG, CD79A, MYC
18gemcitabine44 49 1110.9MYC, CDKN1B, BIRC5, PCNA, BCL2L1, BAX
19retinoid448.9BAX, MYC, CDH1, GJA1, KRT4, KRT14
20roscovitine448.9BCL2L1, BIRC5, PCNA, CDKN2A, MYC
21celecoxib44 59 28 49 11 2413.9BAX, BIRC5, MKI67, CDH1, PCNA, CDKN1B
22docetaxel44 49 59 1111.8MYC, BCL2L1, BAX, BIRC5, GJA1, CDH1
23cytarabine44 49 1110.8BAX, MYC, CDKN2A, PCNA, CDKN1B, BCL2L1
24adriamycin448.8BAX, MYC, CDKN2A, CDH1, BIRC5, BCL2L1
25dutp448.7BCL2L1, PCNA, MKI67, BAX, BIRC5
26paclitaxel44 49 1110.7BAX, MYC, CDKN2A, CDH1, CDKN1B, GJA1
27camptothecin44 59 1110.7CDKN1B, PCNA, BCL2L1, BIRC5, BAX, MYC
28bromodeoxyuridine448.7TP63, KRT14, GJA1, PCNA, CDKN1B, MYC
29flavopiridol44 119.6BCL2L1, CDKN1B, BAX, CDKN2A, BIRC5
30methotrexate44 49 1110.6PCNA, BIRC5, CDKN1B, MKI67, CDKN2A, CDH1
31mg 13244 599.4CDH1, PCNA, BIRC5, BCL2L1, CDKN2A, MYC
32hematoxylin448.4PCNA, KRT14, MKI67, CDKN2A, CDH1, TP63
33alanine448.4B3GAT1, PCNA, BIRC5, CDKN1B, GJA1, KRT14
34thymidylate448.3BAX, PCNA, CDH1, BCL2L1, MKI67, CDKN2A
35tamoxifen44 49 28 1111.3CDKN1B, KRT14, MYC, BAX, GJA1, PCNA
36genistein44 28 59 2 11 2413.2BAX, CDKN1B, MYC, CDH1, PCNA, GJA1
37n acetylcysteine448.2CDKN1B, MYC, CDH1, CDKN2A, CD79A, BAX
38thymidine44 249.0MKI67, MYC, CDKN1B, PCNA, CEACAM7, BIRC5
39dexamethasone44 49 28 1111.0BIRC5, GJA1, ENG, MYC, CDH1, CDKN1B
40testosterone44 59 11 2410.9PCNA, TP63, BIRC5, GJA1, B3GAT1, CDKN1B
41arginine447.8CDH1, CDKN2A, KRT14, PCNA, B3GAT1, CDKN1B
425fluorouracil447.7CDKN2A, CDKN1B, PCNA, BCL2L1, CEACAM7, BIRC5
43doxorubicin44 49 119.5BAX, MKI67, MYC, CDKN2A, CDH1, CDKN1B
44threonine447.5BCL2L1, ENG, KRT14, BIRC5, CDKN1B, CDKN2A
45tyrosine447.4CDKN1B, GJA1, BIRC5, KRT14, TP63, ENG
46cisplatin44 49 59 1110.1MYC, BIRC5, KRT14, BCL2L1, CDKN2A, CDH1
47progesterone44 59 28 11 2410.9PCNA, CDKN1B, CDH1, CDKN2A, S100A1, B3GAT1
48vegf446.6TP63, BCL2L1, ENG, BIRC5, GJA1, CDKN1B
49paraffin446.1ENG, KRT14, BIRC5, GJA1, PCNA, CDKN1B
50retinoic acid44 247.0MKI67, BAX, S100A1, MYC, CDKN2A, CDH1

GO Terms for genes affiliated with Basaloid Squamous Cell Carcinoma

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Sources:
16Gene Ontology
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Cellular components related to Basaloid Squamous Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:0163429.9CDH1, CTNNA1
2Bcl-2 family protein complexGO:0971369.7BCL2L1, BAX
3nucleolusGO:0057308.2MYC, CDKN2A, PCNA, KRT14, ENG, TP63
4cytosolGO:0058297.7CTNNA1, BAX, CDKN2A, CDKN1B, GJA1, BIRC5

Biological processes related to Basaloid Squamous Cell Carcinoma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular response to indole-3-methanolGO:07168110.1CDH1, CTNNA1
2gap junction assemblyGO:01626410.0GJA1, CTNNA1
3response to gamma radiationGO:0103329.8BAX, MYC, TP63
4cellular response to UVGO:0346449.8TP63, MYC, BAX
5activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.7CDKN1B, CDKN2A, BAX
6odontogenesis of dentin-containing toothGO:0424759.6CTNNA1, BAX, TP63
7apoptotic mitochondrial changesGO:0086379.6BCL2L1, CDKN2A, BAX
8ovarian follicle developmentGO:0015419.6BCL2L1, BAX, CTNNA1
9cell junction assemblyGO:0343299.5KRT14, CDH1, CTNNA1
10negative regulation of apoptotic processGO:0430668.9CTNNA1, MYC, CDKN1B, BIRC5, BCL2L1, TP63
11apoptotic processGO:0069158.8BAX, CDH1, GJA1, BIRC5, BCL2L1, TP63

Molecular functions related to Basaloid Squamous Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor, cytoplasmic mediator activityGO:00507210.1ENG, CDKN1B
2gamma-catenin bindingGO:04529510.0CDH1, CTNNA1
3cyclin-dependent protein serine/threonine kinase inhibitor activityGO:0048619.7CDKN1B, CDKN2A
4BH3 domain bindingGO:0514349.6BAX, BCL2L1
5identical protein bindingGO:0428028.4S100A1, BAX, PCNA, BIRC5, BCL2L1, TP63
6protein bindingGO:0055155.5TP63, S100A1, CTNNA1, BAX, MKI67, MYC

Products for genes affiliated with Basaloid Squamous Cell Carcinoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
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36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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