MCID: BSL021
MIFTS: 25

Basal Cell Carcinoma, Somatic malady

Genetic diseases (common), Cancer diseases categories

Summaries for Basal Cell Carcinoma, Somatic

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48OMIM, 34MalaCards
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MalaCards: Basal Cell Carcinoma, Somatic is related to basal cell carcinoma and medulloblastoma. An important gene associated with Basal Cell Carcinoma, Somatic is RASA1 (RAS p21 protein activator (GTPase activating protein) 1), and among its related pathways are Hedgehog signaling events mediated by Gli proteins and Proteoglycans in cancer. The compound cyclopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Description from OMIM:48 605462

Aliases & Classifications for Basal Cell Carcinoma, 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:

basal cell carcinoma, somatic 48


Related Diseases for Basal Cell Carcinoma, Somatic

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Sources:
18GeneCards, 19GeneDecks
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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
1basal cell carcinoma9.9SMO, PTCH1, RASA1
2medulloblastoma9.9PTCH1, PTCH2, SMO
3nevoid basal cell carcinoma syndrome9.9PTCH1, PTCH2, SMO

Symptoms for Basal Cell Carcinoma, Somatic

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48OMIM
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Clinical features from OMIM:

605462

Drugs & Therapeutics for Basal Cell Carcinoma, Somatic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Basal Cell Carcinoma, Somatic

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34MalaCards
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MalaCards organs/tissues related to Basal Cell Carcinoma, Somatic:

34
Skin

Animal Models for Basal Cell Carcinoma, Somatic or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Basal Cell Carcinoma, Somatic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8RASA1, PTCH1, SMO
2MP:00053828.7SMO, PTCH1, RASA1
3MP:00053808.5RASA1, PTCH1, SMO
4MP:00028738.5PTCH1, PTCH2, SMO
5MP:00053818.2RASA1, PTCH1, PTCH2, SMO
6MP:00053698.1SMO, PTCH2, PTCH1, RASA1
7MP:00053858.1RASA1, PTCH1, PTCH2, SMO
8MP:00036318.1SMO, PTCH2, PTCH1, RASA1

Publications for Basal Cell Carcinoma, Somatic

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Variations for Basal Cell Carcinoma, Somatic

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Carcinoma, Somatic:

65
id Symbol AA change Variation ID SNP ID
1PTCH1p.Arg1114TrpVAR_007847

Expression for genes affiliated with Basal Cell Carcinoma, Somatic

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 54QIAGEN, 5Cell Signaling Technology, 62Tocris Bioscience, 56Reactome, 52PharmGKB
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Pathways related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SMO, PTCH1
29.3PTCH1, SMO
39.3PTCH1, SMO
4
Show member pathways
9.1PTCH2, SMO
59.0PTCH2, PTCH1
6
Show member pathways
8.6RASA1, PTCH2, SMO
7
Show member pathways
8.5PTCH1, PTCH2, SMO
8
Show member pathways
8.5PTCH1, PTCH2, SMO
9
Show member pathways
8.5SMO, PTCH2, PTCH1
108.5PTCH1, PTCH2, SMO
118.5PTCH1, PTCH2, SMO
12
Show member pathways
8.5PTCH1, PTCH2, SMO
13
Show member pathways
8.0SMO, PTCH2, PTCH1, RASA1

Compounds for genes affiliated with Basal Cell Carcinoma, Somatic

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Sources:
46Novoseek, 62Tocris Bioscience
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Compounds related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine46 6210.3PTCH1, SMO

GO Terms for genes affiliated with Basal Cell Carcinoma, Somatic

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17Gene Ontology
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Cellular components related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.3PTCH1, SMO
2primary ciliumGO:0723729.2PTCH1, SMO
3caveolaGO:0059019.0PTCH1, SMO

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:0610539.5SMO, PTCH1
2renal system developmentGO:0720019.5SMO, PTCH1
3mammary gland epithelial cell differentiationGO:0606449.5SMO, PTCH1
4cellular response to cholesterolGO:0713979.4SMO, PTCH1
5heart morphogenesisGO:0030079.3SMO, PTCH1
6smoothened signaling pathwayGO:0072249.2SMO, PTCH1
7vasculogenesisGO:0015709.1SMO, RASA1
8negative regulation of smoothened signaling pathwayGO:0458799.1PTCH2, PTCH1
9epidermis developmentGO:0085449.0PTCH2, PTCH1

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

idNameGO IDScoreTop Affiliating Genes
1smoothened bindingGO:0051199.0PTCH1, PTCH2
2patched bindingGO:0051139.0PTCH1, SMO
3hedgehog receptor activityGO:0081589.0PTCH1, PTCH2
4hedgehog family protein bindingGO:0971088.9PTCH1, PTCH2

Products for genes affiliated with Basal Cell Carcinoma, Somatic

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Basal Cell Carcinoma, 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