MCID: LRY018
MIFTS: 47

Laryngeal Squamous Cell Carcinoma malady

Summaries for Laryngeal Squamous Cell Carcinoma

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33MalaCards
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MalaCards: Laryngeal Squamous Cell Carcinoma, also known as epidermoid carcinoma of the larynx, is related to squamous cell carcinoma and papillary carcinoma. An important gene associated with Laryngeal Squamous Cell Carcinoma is BIRC5 (baculoviral IAP repeat containing 5), and among its related pathways are Pathways in cancer and Rho Family GTPases. The compounds retinoic acid and oligonucleotide have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and immune system.

Aliases & Classifications for Laryngeal Squamous Cell Carcinoma

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT
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Aliases & Descriptions:

laryngeal squamous cell carcinoma 8 10 45 61
epidermoid carcinoma of the larynx 8
squamous cell carcinoma of larynx 8


External Ids:

Disease Ontology8 DOID:2876
SNOMED-CT57 405822008
NCIt40 C4044

Related Diseases for Laryngeal Squamous Cell Carcinoma

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

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma32.4NME1, EIF4E, MKI67, CCND1
2papillary carcinoma30.6NME1, MKI67, VEGFC, IFI27
3adenocarcinoma30.3GSTT1, BCL2, PTEN, TERT, SKP2, BIRC5
4parathyroid carcinoma30.3MKI67, CCND1
5anal squamous cell carcinoma10.9
6squamous cell papilloma10.9
7hypoxia10.5
8h. pylori infection10.5
9laryngeal small cell carcinoma10.5
10small cell carcinoma10.5
11skin squamous cell carcinoma10.5
12oral squamous cell carcinoma10.5
13papillary squamous carcinoma10.4
14fanconi's anemia10.2
15larynx squamous papilloma10.2
16colon squamous cell carcinoma10.2
17sarcocystosis10.2
18kindler syndrome10.2
19melanoma10.0GSTT1, BCL2, PTEN, TERT, SKP2, BIRC5
20hepatocellular carcinoma10.0GSTT1, BCL2, PTEN, TERT, SKP2, BIRC5
21stomach cancer10.0BCL2, PTEN, TERT, SKP2, BIRC5, NME1
22colorectal cancer10.0BCL2, PTEN, TERT, SKP2, BIRC5, NME1
23adenoma10.0GSTT1, BCL2, TERT, SKP2, BIRC5, NME1
24leukemia10.0GSTT1, BCL2, TERT, SKP2, BIRC5, NME1
25ovarian cancer10.0BCL2, PTEN, TERT, SKP2, BIRC5, NME1
26prostate cancer10.0GSTT1, BCL2, PTEN, TERT, SKP2, BIRC5
27retinoblastoma10.0BCL2, TERT, SKP2, BIRC5, NME1, PCNA
28non-small cell lung carcinoma10.0BCL2, TERT, SKP2, BIRC5, NME1, PCNA
29cervical cancer10.0GSTT1, BCL2, TERT, SKP2, BIRC5, NME1
30squamous cell carcinoma of the head and neck10.0GSTT1, BCL2, BIRC5, NME1, MMP13, EIF4E
31burkitt's lymphoma10.0BCL2, SKP2, BIRC5, EIF4E, CDKN2B, CDKN2A
32transitional cell carcinoma10.0GSTT1, BIRC5, NME1, NAT2, PCNA, CDKN2B
33oral cancer10.0GSTT1, TERT, SKP2, BIRC5, PCNA, CDKN2A
34gastric adenocarcinoma10.0GSTT1, BCL2, BIRC5, NME1, MMP13, NAT2
35bladder carcinoma10.0GSTT1, TERT, BIRC5, NAT2, CDKN2B, CDKN2A
36lung adenocarcinoma10.0GSTT1, BCL2, TERT, SKP2, BIRC5, CDKN2A
37kidney cancer10.0GSTT1, BIRC5, NME1, PCNA, MKI67, VEGFC
38esophageal cancer10.0NME1, MMP13, PCNA, CDKN2B, CDKN2A, VEGFC
39laryngeal carcinoma10.0GSTT1, TERT, NME1, NAT2, PCNA, MKI67
40nasopharynx carcinoma10.0GSTT1, BCL2, TERT, NME1, NAT2, PCNA
41b-cell lymphomas10.0BCL2, SKP2, BIRC5, CDKN2B, CDKN2A, MKI67
42malignant glioma10.0BCL2, PTEN, TERT, BIRC5, PCNA, CDKN2B
43cervical intraepithelial neoplasia10.0TERT, BIRC5, NME1, CDKN2A, MKI67, VEGFC
44breast cancer, invasive ductal10.0BCL2, NME1, PCNA, MKI67, VEGFC, CTSD
45astrocytoma10.0GSTT1, PTEN, PCNA, CDKN2B, CDKN2A, MKI67
46thyroid cancer10.0PTEN, TERT, SKP2, NME1, VEGFC, CTSD
47non-hodgkin lymphoma10.0GSTT1, BCL2, SKP2, BIRC5, NAT2, CDKN2B
48colon cancer10.0BCL2, TERT, BIRC5, NME1, EIF4E, CTSD
49lung cancer10.0BCL2, TERT, BIRC5, NME1, PCNA, VEGFC
50glioblastoma multiforme10.0PTEN, TERT, BIRC5, EIF4E, CDKN2B, CDKN2A

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



Diseases related to laryngeal squamous cell carcinoma

Clinical Features for Laryngeal Squamous Cell Carcinoma

Drugs & Therapeutics for Laryngeal Squamous Cell Carcinoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Laryngeal Squamous Cell Carcinoma

Drug clinical trials:

Search ClinicalTrials for Laryngeal Squamous Cell Carcinoma

Search NIH Clinical Center for Laryngeal Squamous Cell Carcinoma

Search CenterWatch for Laryngeal Squamous Cell Carcinoma

Genetic Tests for Laryngeal Squamous Cell Carcinoma

Anatomical Context for Laryngeal Squamous Cell Carcinoma

Animal Models for Laryngeal Squamous Cell Carcinoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Laryngeal Squamous Cell Carcinoma

Sources:
51PubMed
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Articles related to Laryngeal Squamous Cell Carcinoma:

(show top 50)    (show all 605)
idTitleAuthorsYear
1
MicroRNA-205 suppresses proliferation and promotes apoptosis in laryngeal squamous cell carcinoma. (24297308)
2014
2
Significance of MDM2-309 Polymorphisms and Induced Corresponding Plasma MDM2 Levels in Susceptibility to Laryngeal Squamous Cell Carcinoma. (24325471)
2013
3
Intracellular CTLA4 and regulatory T cells in patients with laryngeal squamous cell carcinoma. (23252863)
2013
4
A strategy for supraclavicular lymph node dissection using recurrent laryngeal nerve lymph node status in thoracic esophageal squamous cell carcinoma. (23642437)
2013
5
The prognostic value of tumor-stroma proportion in laryngeal squamous cell carcinoma. (23354793)
2013
6
Expression of BMI1 and p16 in laryngeal squamous cell carcinoma. (22730165)
2013
7
Papillary thyroid carcinoma and laryngeal squamous cell carcinoma manifesting as a collision tumor of the neck: A case report. (24260054)
2013
8
The cadherin-catenin complex in laryngeal squamous cell carcinoma. (22197995)
2012
9
Analysis on expression of survivin and PTEN in vocal cords polyps, papilloma of larynx and laryngeal squamous cell carcinoma]. (23167185)
2012
10
WNT pathway in laryngeal squamous cell carcinoma and nasopharyngeal carcinoma. (22767974)
2012
11
The role of IL-8 in the SDF-1I+/CXCR4-induced angiogenesis of laryngeal and hypopharyngeal squamous cell carcinoma. (22366438)
2012
12
The expression of c-myc in the tissues of human laryngeal squamous cell carcinoma and the effect of siRNA-mediated inhibition of c-myc on proliferation in laryngeal carcinoma Hep-2 cells]. (22010341)
2011
13
The role of tumor cells in the modification of T lymphocytes activity--the expression of the early CD69+, CD71+ and the late CD25+, CD26+, HLA/DR+ activation markers on T CD4+ and CD8+ cells in squamous cell laryngeal carcinoma. Part I. (22252752)
2011
14
Prognostic value of the immunological phenomena and relationship with clinicopathological characteristics of the tumor--the expression of the early CD69+, CD71+ and the late CD25+, CD26+, HLA/DR+ activation markers on T CD4+ and CD8+ lymphocytes in squamous cell laryngeal carcinoma. Part II. (22252753)
2011
15
The expression of DNMT1 in laryngeal squamous cell carcinoma and its clinical significance]. (21395176)
2010
16
The cytoskeleton and immigration of laryngeal squamous carcinoma cell affected by Fascin-1 expression]. (21089665)
2010
17
Usefulness and efficiency of formalin-fixed paraffin-embedded specimens from laryngeal squamous cell carcinoma in HPV detection by IHC and PCR/DEIA. (21071345)
2010
18
DJ-1 expression in laryngeal squamous cell carcinoma and its relationship with tumor recurrence and metastasis]. (21055329)
2010
19
Expression and significance of signal transducer and activator of transcription 3 and c-myc in laryngeal squamous cell carcinoma]. (20873543)
2010
20
Cucurbitacin B, a small molecule inhibitor of the Stat3 signaling pathway, enhances the chemosensitivity of laryngeal squamous cell carcinoma cells to cisplatin. (20483353)
2010
21
Overexpression of mitogen-activated protein kinase kinase 4 and nuclear factor-kappaB in laryngeal squamous cell carcinoma: a potential indicator for poor prognosis. (19513509)
2009
22
Overexpression of Cap43 gene in supraglottic laryngeal squamous cell carcinoma. (19847997)
2009
23
Radiation enhances suicide gene therapy in radioresistant laryngeal squamous cell carcinoma via activation of a tumor-specific promoter. (19375219)
2009
24
Characterization of homozygous deletions in laryngeal squamous cell carcinoma cell lines. (18558287)
2008
25
SELDI-TOF MS profiling of serum for detection of laryngeal squamous cell carcinoma and the progression to lymph node metastasis. (18202856)
2008
26
Possible prognostic role of p53 expression in laryngeal squamous cell carcinoma of non-smokers, non-alcoholic patients. (18607961)
2008
27
NKG2D ligands expression and NKG2D-mediated cytotoxicity in human laryngeal squamous carcinoma cells. (18312485)
2008
28
The relationship between the activation of ERK and the up-regulation of uPA in laryngeal squamous cell carcinoma]. (17634019)
2007
29
Association of CDK4 and CCND1 mRNA overexpression in laryngeal squamous cell carcinomas occurs without CDK4 amplification. (17139501)
2007
30
Significance and mechanism of microsatellite instability in laryngeal squamous cell carcinoma. (17711772)
2007
31
The expression and significance of HIF-1alpha and COX-2 in laryngeal squamous cell carcinoma]. (18062281)
2007
32
Prognostic significance of stomatin-like protein 2 overexpression in laryngeal squamous cell carcinoma: clinical, histologic, and immunohistochemistry analyses with tissue microarray. (17306333)
2007
33
Expression and significance of ErbB3 and ErbB4 in patients with laryngeal squamous cell carcinomas]. (17969526)
2007
34
The expression of tumor necrosis factor related apoptosis induce ligand in human laryngeal squamous cell carcinoma]. (17357513)
2006
35
Expression of telomerase reverse transcriptase and its relationship with expression of c-myc in laryngeal squamous cell carcinomas]. (17219990)
2006
36
Laryngeal squamous cell carcinoma with infradiaphragmatic presentation of skin metastases. (16487102)
2006
37
Molecular assessment of neck dissections supports preserving level IIB lymph nodes in selective neck dissection for laryngeal squamous cell carcinoma with a clinically negative neck. (16465073)
2006
38
The expression and role of VEGF-C and its receptor FLT-4 in laryngeal and hypopharyngeal squamous cell carcinoma metastasis]. (16375119)
2005
39
Immunohistochemical demonstration of multiple HPV types in laryngeal squamous cell carcinoma. (15924277)
2005
40
Cyclin D3 immunoreactivity is an independent predictor of survival in laryngeal squamous cell carcinoma. (15671552)
2005
41
Glutathione S-transferase M1, T1, and P1 gene polymorphism in laryngeal squamous cell carcinoma. (15334395)
2004
42
Controversies in the management of advanced laryngeal squamous cell carcinoma. (15241816)
2004
43
p63 in laryngeal squamous cell carcinoma: evidence for a role of TA-p63 down-regulation in tumorigenesis and lack of prognostic implications of p63 immunoreactivity. (12379767)
2002
44
Thymidine labeling index in laryngeal squamous cell carcinoma in correlation with pTNM, age, histological grade and recurrence. (12232471)
2002
45
Human papillomavirus infection and cyclin D1 gene amplification in laryngeal squamous cell carcinoma: biologic function and clinical significance. (12112558)
2002
46
Homozygous deletion of p16 and p15 genes in laryngeal squamous cell carcinoma]. (11836682)
2002
47
Cyclin-dependent kinase inhibitor p27 is related to cell proliferation and prognosis in laryngeal squamous cell carcinomas. (11410133)
2001
48
Immunohistochemical analysis and prognostic value of cathepsin D determination in laryngeal squamous cell carcinoma. (10850757)
2000
49
Hyponatremia associated with laryngeal squamous cell carcinoma. (8080640)
1994
50
Protein tyrosine kinase activity in laryngeal squamous cell carcinoma. (8442941)
1993

Genetic Variations for Laryngeal Squamous Cell Carcinoma

Expression for genes affiliated with Laryngeal Squamous Cell Carcinoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Laryngeal Squamous Cell Carcinoma

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

Pathways for genes affiliated with Laryngeal Squamous Cell Carcinoma

Sources:
30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Laryngeal Squamous Cell Carcinoma according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
111.0BIRC5, PTEN, BCL2, SKP2, CDKN2B, CDKN2A
2
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11.0CDKN2B, PTEN, BCL2, CCND1, FLT4, CDKN2A
3
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11.0TERT, BCL2, PTEN, EIF4E, FLT4, VEGFC
410.9CDKN2B, PCNA, NME1, PTEN, BCL2, CCND1
5
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10.9VEGFC, EIF4E, CCND1, FLT4, PTEN, BCL2
610.9CCND1, VEGFC, FLT4, PTEN, EIF4E, BCL2
7
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10.9MKI67, SKP2, CCND1, AURKA, CDKN2A, PCNA
810.8TERT, PCNA, CDKN2B, CCND1, CDKN2A
910.8BCL2, SKP2, CDKN2B, CCND1, PTEN
10
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10.8CDKN2A, CDKN2B, CCND1, SKP2, PCNA
11
Cell cycle Cell cycle (generic schema)
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10.8PCNA, CDKN2B, CDKN2A, SKP2, CCND1
12
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10.8BCL2, PTEN, BIRC5, PCNA, CCND1
13
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10.8BCL2, CCND1, PCNA, PTEN, BIRC5
14
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10.8CCND1, VEGFC, FLT4, PTEN, BCL2
1510.8BIRC5, NME1, EIF4E, TERT
1610.8CCND1, CDKN2B, SKP2, CDKN2A
17
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10.8SKP2, CDKN2B, CDKN2A, CCND1
1810.8PTEN, AURKA, CCND1, BCL2
19
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10.8FLT4, VEGFC, CDKN2B, MMP13
20
Hide members
10.8BCL2, PTEN, CDKN2A, CCND1
2110.8BCL2, CCND1, CDKN2A, PTEN
2210.8PCNA, PTEN, BCL2, CTSD
2310.8CDKN2A, PCNA, PTEN, BCL2
2410.7CDKN2B, BCL2, CCND1
2510.7CCND1, SKP2, BIRC5
26
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10.7PTEN, CDKN2A, CCND1
2710.7CDKN2A, CCND1, PTEN
2810.7PTEN, FLT4, EIF4E
29
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10.7CCND1, PCNA, PTEN
30
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10.7CDKN2A, SKP2, PCNA
31
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10.6FLT4, VEGFC
32
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10.6CDKN2B
33
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10.5AURKA

Compounds for genes affiliated with Laryngeal Squamous Cell Carcinoma

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
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Compounds related to Laryngeal Squamous Cell Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 151)
idCompoundScoreTop Affiliating Genes
1retinoic acid45 2413.1BCL2, IFI27, CCND1, CTSD, FLT4, VEGFC
2oligonucleotide4512.0EIF4E, NAT2, PCNA, VEGFC, IFI27, CCND1
3paraffin4512.0VEGFC, MKI67, CDKN2A, PCNA, MMP13, NME1
4vegf4512.0BCL2, PTEN, TERT, BIRC5, NME1, MMP13
5progesterone45 60 29 11 2415.9BCL2, PTEN, SKP2, BIRC5, NME1, EIF4E
6cisplatin45 50 60 1114.8MKI67, CTSD, IFI27, CCND1, CDKN2A, TERT
7oxygen45 2412.8CDKN2A, CTSD, IFI27, FLT4, GSTT1, BCL2
8paclitaxel45 50 1113.6BCL2, PTEN, CTSD, CDKN2A, AURKA, IFI27
9nitric oxide45 11 2413.6CDKN2A, NAT2, EIF4E, MMP13, NME1, BIRC5
10phosphatidylinositol4511.6BCL2, EIF4E, TERT, CTSD, IFI27, CCND1
11pd 98,0594511.6CDKN2B, CCND1, IFI27, VEGFC, EIF4E, MMP13
12ly2940024511.6TERT, BCL2, PTEN, SKP2, BIRC5, EIF4E
13doxorubicin45 50 1113.6IFI27, CTSD, CDKN2A, MKI67, BIRC5, TERT
14genistein45 29 60 2 11 2416.6BCL2, PCNA, CTSD, IFI27, CCND1, TERT
15thymidine45 2412.6CTSD, BIRC5, NME1, PCNA, MKI67, VEGFC
16arsenite45 2412.5CDKN2A, CCND1, PTEN, BCL2, TERT, BIRC5
17testosterone45 60 11 2414.5PTEN, TERT, BIRC5, PCNA, CDKN2A, MKI67
185fluorouracil4511.5CDKN2A, PCNA, NME1, BIRC5, BCL2, TERT
19rapamycin4511.5CCND1, IFI27, FLT4, EIF4E, BIRC5, SKP2
20threonine4511.5TERT, BIRC5, IFI27, EIF4E, MKI67, CDKN2B
21steroid4511.5GSTT1, BIRC5, NME1, EIF4E, CTSD, IFI27
22thymidylate4511.5CCND1, BCL2, TERT, BIRC5, PCNA, CDKN2A
23p0024511.5IFI27, GSTT1, CTSD, BIRC5, SKP2, NME1
24mg 13245 6012.4EIF4E, PCNA, BCL2, IFI27, BIRC5, PTEN
25dexamethasone45 50 29 1114.4NME1, MMP13, NAT2, PCNA, CDKN2A, VEGFC
26tyrosine4511.4CDKN2B, TERT, PTEN, BIRC5, NME1, EIF4E
27n acetylcysteine4511.4BIRC5, TERT, BCL2, PCNA, CDKN2A, IFI27
28tamoxifen45 50 29 1114.4CCND1, PTEN, BIRC5, BCL2, PCNA, MKI67
29serine4511.3AURKA, NME1, MMP13, EIF4E, CDKN2B, MKI67
30eb 108945 6012.3CCND1, PTEN, SKP2, IFI27, BCL2, PCNA
31roscovitine4511.3CDKN2A, PCNA, CCND1, BIRC5, IFI27, BCL2
32methotrexate45 50 1113.2BIRC5, PCNA, MKI67, NAT2, CDKN2A, CDKN2B
33trastuzumab45 50 1113.2CCND1, IFI27, CTSD, VEGFC, BIRC5, PTEN
34agar4511.2CCND1, CDKN2A, PTEN, BIRC5, NME1, EIF4E
35norcantharidin4511.2MKI67, IFI27, CCND1, BIRC5, PCNA
36estradiol45 11 2413.2BIRC5, MKI67, PTEN, CTSD, VEGFC
37adpribose4511.2PCNA, BIRC5, TERT, IFI27, CCND1, BCL2
38etoposide45 50 60 1114.2TERT, EIF4E, CTSD, BCL2
39p000014511.1CCND1, VEGFC, MKI67, CDKN2A, BIRC5
40crcs4511.1BIRC5, PTEN, CCND1, CDKN2A, NME1
41indole-3-carbinol4511.1IFI27, BCL2, CCND1, PTEN, BIRC5
42dutp4511.0CCND1, MKI67, PCNA, BIRC5, BCL2
43sulindac45 1112.0CCND1, IFI27, PCNA, BIRC5, BCL2
44adriamycin4511.0CTSD, BIRC5, TERT, BCL2, CDKN2A, CCND1
45troglitazone45 29 60 1114.0BIRC5, BCL2, PTEN, SKP2, IFI27, CCND1
46cyclophosphamide45 50 1112.9PTEN, CTSD, MKI67, PCNA, GSTT1, BCL2
47vincristine45 50 1112.8MKI67, CCND1
48olomoucine45 1111.8CCND1, PCNA, BCL2, CDKN2A
49chi 24510.7MKI67, NME1, GSTT1, IFI27
50nimbolide4510.4CCND1, PCNA, BIRC5

GO Terms for genes affiliated with Laryngeal Squamous Cell Carcinoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Laryngeal Squamous Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.3GSTT1, AURKA, CDKN2A, CDKN2B, NAT2, EIF4E

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

idNameGO IDScoreTop Affiliating Genes
1mitotic cell cycleGO:00027811.0CCND1, AURKA, CDKN2A, CDKN2B, PCNA, BIRC5
2response to drugGO:04249310.8GSTT1, BCL2, VEGFC, CCND1
3regulation of protein stabilityGO:03164710.8AURKA, CDKN2A, PTEN, BCL2
4G1/S transition of mitotic cell cycleGO:00008210.7SKP2, PCNA
5replicative senescenceGO:09039910.5CDKN2A, TERT
6response to iron ionGO:01003910.3CCND1, BCL2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551511.6FLT4, CCND1, AURKA, CTSD, VEGFC, MKI67
2protein kinase bindingGO:01990110.8CCND1, AURKA, PTEN, NME1, CDKN2B, CDKN2A
3cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00486110.6CDKN2A, CDKN2B
4identical protein bindingGO:04280210.5NME1, BIRC5, SKP2, BCL2, PCNA

Products for genes affiliated with Laryngeal Squamous Cell Carcinoma

  • Antibodies
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Sources for Laryngeal Squamous Cell Carcinoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet