MCID: SQM009
MIFTS: 18

Squamous Cell Carcinoma, Head and Neck, Somatic malady

Genetic diseases (common), Cancer diseases categories

Summaries for Squamous Cell Carcinoma, Head and Neck, Somatic

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48OMIM, 34MalaCards
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MalaCards: Squamous Cell Carcinoma, Head and Neck, Somatic is related to brain cancer and stomach cancer. An important gene associated with Squamous Cell Carcinoma, Head and Neck, Somatic is PTEN (phosphatase and tensin homolog), and among its related pathways is Senescence and Autophagy. The compounds cisplatin and etoposide have been mentioned in the context of this disorder.

Description from OMIM:48 275355

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

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48OMIM
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Classifications:

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


Aliases & Descriptions:

squamous cell carcinoma, head and neck, somatic 48


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

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18GeneCards, 19GeneDecks
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Diseases related to Squamous Cell Carcinoma, Head and Neck, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brain cancer10.0PTEN, ING1
2stomach cancer10.0PTEN, ING1
3colorectal cancer10.0PTEN, ING1
4malignant glioma9.9PTEN, ING1
5hepatocellular carcinoma9.9PTEN, ING1
6squamous cell carcinoma of the head and neck9.9PTEN, ING3, ING1

Graphical network of 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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48OMIM
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Clinical features from OMIM:

275355

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Squamous Cell Carcinoma, Head and Neck, Somatic:

65
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1TNFRSF10BTNFRSF10B, 2-BP INSinsertionPathogenic
2PTENNM_000314.4(PTEN): c.362C> G (p.Ala121Gly)single nucleotide variantPathogenicrs121909237GRCh37Chr 10, 89692878: 89692878
3ING1NM_198217.2(ING1): c.512G> C (p.Cys171Ser)single nucleotide variantPathogenicrs121909250GRCh37Chr 13, 111372083: 111372083
4ING1NM_198217.2(ING1): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs121909251GRCh37Chr 13, 111372086: 111372086
5ING1NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 39NCBI BioSystems Database
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Pathways related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PTEN, ING1

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

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46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank
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Compounds related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cisplatin46 52 62 1212.0PTEN, ING1
2etoposide46 52 62 1211.9PTEN, ING1
3paclitaxel46 52 1210.7PTEN, ING1

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

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17Gene Ontology
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Biological processes related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:0082859.0PTEN, ING1
2positive regulation of apoptotic processGO:0430659.0PTEN, ING3

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

idNameGO IDScoreTop Affiliating Genes
1methylated histone residue bindingGO:0350649.1ING3, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet