MCID: BSL021
MIFTS: 24

Basal Cell Carcinoma, Somatic malady

Cancer diseases category

Summaries for Basal Cell Carcinoma, Somatic

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46OMIM, 32MalaCards
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MalaCards: Basal Cell Carcinoma, Somatic is related to xeroderma pigmentosum and holoprosencephaly. An important gene associated with Basal Cell Carcinoma, Somatic is PTCH2 (patched 2), and among its related pathways are G-Beta Gamma Signaling and Rho Family GTPases. The compound cyclopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are muscle and limbs/digits/tail.

Description from OMIM:46 605462

Aliases & Classifications for Basal Cell Carcinoma, Somatic

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46OMIM
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Classifications:

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


Aliases & Descriptions:

basal cell carcinoma, somatic 46


Related Diseases for Basal Cell Carcinoma, Somatic

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

idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum10.0PTCH1
2holoprosencephaly10.0PTCH1
3nevoid basal cell carcinoma syndrome10.0PTCH2, PTCH1, SMO
4basal cell carcinoma10.0RASA1, PTCH1, SMO
5medulloblastoma10.0SMO, PTCH1, PTCH2

Graphical network of diseases related to Basal Cell Carcinoma, Somatic:



Diseases related to basal cell carcinoma, somatic

Clinical Features for Basal Cell Carcinoma, Somatic

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46OMIM
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Clinical features from OMIM:

605462

Drugs & Therapeutics for Basal Cell Carcinoma, Somatic

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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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Search NIH Clinical Center for Basal Cell Carcinoma, Somatic

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Genetic Tests for Basal Cell Carcinoma, Somatic

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Anatomical Context for Basal Cell Carcinoma, Somatic

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32MalaCards
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MalaCards organs/tissues related to Basal Cell Carcinoma, Somatic:

32
Skin

Animal Models for Basal Cell Carcinoma, Somatic or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Basal Cell Carcinoma, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5PTCH1, PTCH2, RASA1
2MP:00053718.5RASA1, PTCH1, SMO
3MP:00053828.2RASA1, PTCH1, SMO
4MP:00053818.1SMO, PTCH1, PTCH2, RASA1
5MP:00053858.1SMO, PTCH1, PTCH2, RASA1
6MP:00036317.9SMO, PTCH1, PTCH2, RASA1

Publications for Basal Cell Carcinoma, Somatic

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Genetic Variations for Basal Cell Carcinoma, Somatic

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Basal Cell Carcinoma, Somatic:

62
id Symbol AA change Variation ID SNP ID
1PTCH1p.Arg1114TrpVAR_007847

Expression for genes affiliated with Basal Cell Carcinoma, Somatic

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

Search GEO for disease gene expression data for Basal Cell Carcinoma, Somatic.

Pathways for genes affiliated with Basal Cell Carcinoma, Somatic

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Sources:
51QIAGEN, 37NCBI BioSystems Database, 59Tocris Bioscience, 53Reactome, 4Cell Signaling Technology, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Basal Cell Carcinoma, Somatic

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44Novoseek, 59Tocris Bioscience
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Compounds related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 5910.1SMO, PTCH1

GO Terms for genes affiliated with Basal Cell Carcinoma, Somatic

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16Gene Ontology
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Cellular components related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.1SMO, PTCH1
2primary ciliumGO:0723728.8SMO, PTCH1

Biological processes related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:0610539.3SMO, PTCH1
2renal system developmentGO:0720019.3SMO, PTCH1
3cellular response to cholesterolGO:0713979.3SMO, PTCH1
4mammary gland epithelial cell differentiationGO:0606449.2SMO, PTCH1
5negative regulation of smoothened signaling pathwayGO:0458799.2PTCH2, PTCH1
6heart morphogenesisGO:0030079.1SMO, PTCH1
7epidermis developmentGO:0085449.1PTCH1, PTCH2
8smoothened signaling pathwayGO:0072249.0SMO, PTCH1
9vasculogenesisGO:0015709.0SMO, RASA1

Molecular functions related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smoothened bindingGO:0051199.1PTCH1, PTCH2
2hedgehog receptor activityGO:0081589.1PTCH1, PTCH2
3hedgehog family protein bindingGO:0971089.0PTCH1, PTCH2
4patched bindingGO:0051138.8SMO, PTCH1

Products for genes affiliated with Basal Cell Carcinoma, Somatic

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Sources for Basal Cell Carcinoma, 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
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet