MCID: BSL021
MIFTS: 25

Basal Cell Carcinoma, Somatic malady

Genetic diseases (common), Cancer diseases categories
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Summaries for Basal Cell Carcinoma, Somatic

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MalaCards based summary: Basal Cell Carcinoma, Somatic is related to basal cell carcinoma and medulloblastoma, and has symptoms including 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 Development Hedgehog and PTH signaling pathways in bone and cartilage development. 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:46 605462

Aliases & Classifications for Basal Cell Carcinoma, Somatic

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Basal Cell Carcinoma, Somatic, Aliases & Descriptions:

Name: Basal Cell Carcinoma, Somatic 46


Classifications:

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


Related Diseases for Basal Cell Carcinoma, Somatic

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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 carcinoma9.6SMO, PTCH1, RASA1
2medulloblastoma9.6SMO, PTCH2, PTCH1
3nevoid basal cell carcinoma syndrome9.6SMO, PTCH2, PTCH1

Symptoms for Basal Cell Carcinoma, Somatic

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Clinical features from OMIM:

605462

HPO human phenotypes related to Basal Cell Carcinoma, Somatic:

id Description Frequency HPO Source Accession
1 basal cell carcinoma HP:0002671

Drugs & Therapeutics for Basal Cell Carcinoma, Somatic

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Drug clinical trials:

Search ClinicalTrials for Basal Cell Carcinoma, Somatic

Search NIH Clinical Center 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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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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MGI Mouse Phenotypes related to Basal Cell Carcinoma, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8SMO, RASA1, PTCH1
2MP:00053828.7SMO, RASA1, PTCH1
3MP:00053808.5RASA1, PTCH1, SMO
4MP:00028738.5SMO, PTCH2, PTCH1
5MP:00053818.2SMO, PTCH2, PTCH1, RASA1
6MP:00053698.1SMO, PTCH2, RASA1, PTCH1
7MP:00053858.1RASA1, PTCH1, SMO, PTCH2
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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UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Carcinoma, Somatic:

64
id Symbol AA change Variation ID SNP ID
1PTCH1p.Arg1114TrpVAR_007847

Expression for genes affiliated with Basal Cell Carcinoma, Somatic

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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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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
29.3SMO, PTCH1
39.3PTCH1, SMO
4
Show member pathways
9.1SMO, PTCH2
59.0PTCH2, PTCH1
6
Show member pathways
8.6SMO, PTCH2, RASA1
7
Show member pathways
8.5SMO, PTCH2, PTCH1
8
Show member pathways
8.5PTCH1, PTCH2, SMO
98.5PTCH1, PTCH2, SMO
10
Show member pathways
8.5PTCH1, PTCH2, SMO
118.5PTCH1, PTCH2, SMO
12
Show member pathways
8.5PTCH1, PTCH2, SMO
13
Show member pathways
8.0RASA1, PTCH1, SMO, PTCH2

Compounds for genes affiliated with Basal Cell Carcinoma, Somatic

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Sources:
44Novoseek, 61Tocris Bioscience
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Compounds related to Basal Cell Carcinoma, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 6110.3PTCH1, SMO

GO Terms for genes affiliated with Basal Cell Carcinoma, Somatic

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

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet