MCID: SQM009
MIFTS: 28

Squamous Cell Carcinoma, Head and Neck, Somatic malady

Genetic diseases (common), Cancer diseases categories
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Summaries for Squamous Cell Carcinoma, Head and Neck, Somatic

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MalaCards based summary: Squamous Cell Carcinoma, Head and Neck, Somatic is related to gemistocytic astrocytoma and gliosarcoma. An important gene associated with Squamous Cell Carcinoma, Head and Neck, Somatic is PTEN (phosphatase and tensin homolog), and among its related pathways are Senescence and Autophagy and p53 Signaling. The compounds panitumumab and gw9662 have been mentioned in the context of this disorder. Related mouse phenotypes are hematopoietic system and tumorigenesis.

Description from OMIM:46 275355

Aliases & Classifications for Squamous Cell Carcinoma, Head and Neck, Somatic

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Squamous Cell Carcinoma, Head and Neck, Somatic, Aliases & Descriptions:

Name: Squamous Cell Carcinoma, Head and Neck, Somatic 46


Classifications:

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


Related Diseases for Squamous Cell Carcinoma, Head and Neck, Somatic

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Graphical network of the top 20 diseases related to Squamous Cell Carcinoma, Head and Neck, Somatic:



Diseases related to squamous cell carcinoma, head and neck, somatic

Symptoms for Squamous Cell Carcinoma, Head and Neck, Somatic

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Clinical features from OMIM:

275355

Drugs & Therapeutics for Squamous Cell Carcinoma, Head and Neck, Somatic

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Drug clinical trials:

Search ClinicalTrials for Squamous Cell Carcinoma, Head and Neck, Somatic

Search NIH Clinical Center for Squamous Cell Carcinoma, Head and Neck, Somatic

Genetic Tests for Squamous Cell Carcinoma, Head and Neck, Somatic

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Anatomical Context for Squamous Cell Carcinoma, Head and Neck, Somatic

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Animal Models for Squamous Cell Carcinoma, Head and Neck, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Squamous Cell Carcinoma, Head and Neck, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.6EGFR, PTEN, TNFRSF10B, ING1
2MP:00020068.3EGFR, PTEN, TNFRSF10B, ING1

Publications for Squamous Cell Carcinoma, Head and Neck, Somatic

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Variations for Squamous Cell Carcinoma, Head and Neck, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Squamous Cell Carcinoma, Head and Neck, Somatic:

64
id Symbol AA change Variation ID SNP ID
1ING1p.Ala335AspVAR_017420
2ING1p.Cys358SerVAR_017421
3ING1p.Asn359SerVAR_017422
4ING3p.Asp20GlyVAR_021263
5PTENp.Ala121GlyVAR_018103

Clinvar genetic disease variations for Squamous Cell Carcinoma, Head and Neck, Somatic:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NM_005228.3(EGFR): c.2327G> A (p.Arg776His)single nucleotide variantdrug responsers483352806GRCh37Chr 7, 55249029: 55249029
2EGFRNM_005228.3(EGFR): c.2471G> A (p.Gly824Asp)single nucleotide variantdrug responsers483352808GRCh38Chr 7, 55191720: 55191720
3EGFRNM_005228.3(EGFR): c.2188C> G (p.Leu730Val)single nucleotide variantdrug responsers121913434GRCh37Chr 7, 55242418: 55242418
4NM_005228.3(EGFR): c.2393T> A (p.Leu798His)single nucleotide variantdrug responsers483352807GRCh38Chr 7, 55181402: 55181402
5EGFRNM_005228.3(EGFR): c.2176G> A (p.Val726Met)single nucleotide variantdrug responsers483352805GRCh37Chr 7, 55241728: 55241728
6EGFRNM_005228.3(EGFR): c.2155G> C (p.Gly719Arg)single nucleotide variantLikely pathogenicrs28929495GRCh37Chr 7, 55241707: 55241707
7TNFRSF10BTNFRSF10B, 2-BP INSinsertionPathogenic
8PTENNM_000314.4(PTEN): c.362C> G (p.Ala121Gly)single nucleotide variantPathogenicrs121909237GRCh37Chr 10, 89692878: 89692878
9ING1NM_198217.2(ING1): c.512G> C (p.Cys171Ser)single nucleotide variantPathogenicrs121909250GRCh37Chr 13, 111372083: 111372083
10ING1NM_198217.2(ING1): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs121909251GRCh37Chr 13, 111372086: 111372086
11ING1NM_198217.2(ING1): c.443C> A (p.Ala148Asp)single nucleotide variantPathogenicrs121909252GRCh37Chr 13, 111372014: 111372014

Expression for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Expression patterns in normal tissues for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

Search GEO for disease gene expression data for Squamous Cell Carcinoma, Head and Neck, Somatic.

Pathways for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Pathways related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PTEN, ING1
2
Show member pathways
9.5TNFRSF10B, PTEN
3
Show member pathways
DNA damage response37
9.5TNFRSF10B, PTEN
4
Show member pathways
Signal transduction PTEN pathway60
9.5EGFR, PTEN
5
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5EGFR, PTEN
69.5EGFR, PTEN
79.5EGFR, PTEN
8
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.5EGFR, PTEN
99.5EGFR, PTEN
109.5EGFR, PTEN
11
Show member pathways
9.0TNFRSF10B, PTEN, EGFR
12
Show member pathways
9.0EGFR, PTEN, TNFRSF10B
139.0EGFR, PTEN, TNFRSF10B
14
Show member pathways
9.0TNFRSF10B, PTEN, EGFR

Compounds for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Compounds related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1panitumumab44 50 1111.9EGFR, PTEN
2gw966244 2810.9PTEN, TNFRSF10B
3taxane449.9EGFR, PTEN
4cetuximab44 50 1111.9EGFR, PTEN
5bicalutamide44 61 1111.8PTEN, EGFR
6erlotinib44 50 1111.8EGFR, PTEN
7trastuzumab44 50 1111.7EGFR, PTEN
8topotecan44 1110.7EGFR, TNFRSF10B
9suberoylanilide hydroxamic acid449.7EGFR, TNFRSF10B
10oxaliplatin44 50 1111.7TNFRSF10B, EGFR
11amiloride44 28 1111.7TNFRSF10B, EGFR
12gefitinib44 50 1111.7EGFR, PTEN
13flavopiridol44 1110.7EGFR, TNFRSF10B
14celecoxib44 61 28 50 24 1114.6EGFR, TNFRSF10B
15imatinib44 50 1111.5EGFR, PTEN
16irinotecan44 50 1111.5EGFR, TNFRSF10B
17adpribose449.4TNFRSF10B, EGFR
18etoposide44 50 61 1112.4ING1, TNFRSF10B, PTEN
19bortezomib44 50 1111.4EGFR, PTEN, TNFRSF10B
20gemcitabine44 50 1111.4EGFR, PTEN, TNFRSF10B
21mg 13244 6110.4TNFRSF10B, PTEN, EGFR
225fluorouracil449.4EGFR, PTEN, TNFRSF10B
23doxorubicin44 50 1111.3EGFR, PTEN, TNFRSF10B
24cycloheximide449.2TNFRSF10B, PTEN, EGFR
25paclitaxel44 50 1110.9EGFR, PTEN, TNFRSF10B, ING1
26cisplatin44 50 61 1111.9ING1, TNFRSF10B, PTEN, EGFR
27vegf448.9EGFR, PTEN, TNFRSF10B
28estrogen448.8EGFR, PTEN, ING1

GO Terms for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Biological processes related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1learning or memoryGO:0076119.5EGFR, PTEN
2cell surface receptor signaling pathwayGO:0071669.4EGFR, TNFRSF10B
3cellular response to mechanical stimulusGO:0712609.3EGFR, TNFRSF10B
4phosphatidylinositol-mediated signalingGO:0480159.2EGFR, PTEN

Molecular functions related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1methylated histone residue bindingGO:0350649.4ING3, ING1

Products for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Sources for Squamous Cell Carcinoma, Head and Neck, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet