MCID: BSL021
MIFTS: 21

Basal Cell Carcinoma, Somatic malady

Cancer category

Summaries for Basal Cell Carcinoma, Somatic

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47OMIM, 33MalaCards
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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:47 605462

Aliases & Classifications for Basal Cell Carcinoma, Somatic

Sources:
47OMIM
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Classifications:

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


Aliases & Descriptions:

basal cell carcinoma, somatic 47


Related Diseases for Basal Cell Carcinoma, Somatic

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

605462

Drugs & Therapeutics for Basal Cell Carcinoma, Somatic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Basal Cell Carcinoma, Somatic

Drug clinical trials:

Search ClinicalTrials for Basal Cell Carcinoma, Somatic

Search NIH Clinical Center for Basal Cell Carcinoma, Somatic

Search CenterWatch for Basal Cell Carcinoma, Somatic

Genetic Tests for Basal Cell Carcinoma, Somatic

Anatomical Context for Basal Cell Carcinoma, Somatic

Sources:
33MalaCards
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MalaCards organs/tissues related to Basal Cell Carcinoma, Somatic:

33
Skin

Animal Models for Basal Cell Carcinoma, Somatic or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Basal Cell Carcinoma, Somatic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5PTCH1, PTCH2, RASA1
2MP:00053718.5RASA1, PTCH1, SMO
3MP:00053828.2PTCH1, SMO, RASA1
4MP:00053818.1RASA1, PTCH2, PTCH1, SMO
5MP:00053858.1SMO, PTCH1, RASA1, PTCH2
6MP:00036317.9PTCH1, SMO, PTCH2, RASA1

Publications for Basal Cell Carcinoma, Somatic

Sources:
51PubMed
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Articles related to Basal Cell Carcinoma, Somatic:

idTitleAuthorsYear
1
Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. (16204023)
2005
2
Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. (15656799)
2005

Genetic Variations for Basal Cell Carcinoma, Somatic

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Basal Cell Carcinoma, Somatic:

63
id Symbol AA change Variation SNP ID
1PTCH1p.Arg1114TrpVAR_007847

Expression for genes affiliated with Basal Cell Carcinoma, Somatic

Sources:
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 60Tocris Bioscience, 54Reactome, 4Cell Signaling Technology, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Basal Cell Carcinoma, Somatic

Sources:
45Novoseek, 60Tocris Bioscience
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Compounds related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine45 6010.1SMO, PTCH1

GO Terms for genes affiliated with Basal Cell Carcinoma, Somatic

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Basal Cell Carcinoma, Somatic

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