MCID: BSL021
MIFTS: 31

Basal Cell Carcinoma, Somatic malady

Genetic diseases (common), Cancer diseases categories

Summaries for Basal Cell Carcinoma, Somatic

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OMIM:47 Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009).... (605462) more...

MalaCards based summary: Basal Cell Carcinoma, Somatic, also known as basal cell carcinoma, susceptibility to, 1, is related to basal cell carcinoma and medulloblastoma, and has symptoms including basal cell carcinoma 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.

Aliases & Classifications for Basal Cell Carcinoma, Somatic

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Basal Cell Carcinoma, Somatic, Aliases & Descriptions:

Name: Basal Cell Carcinoma, Somatic 47
Basal Cell Carcinoma, Susceptibility to, 1 11
 
Basal Cell Carcinoma 1 47


Classifications:

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


External Ids:

OMIM47 605462

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 carcinoma9.9SMO, PTCH1, RASA1
2medulloblastoma9.9SMO, PTCH2, PTCH1
3basal cell nevus syndrome9.9SMO, 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:

33
Skin

Animal Models for Basal Cell Carcinoma, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Basal Cell Carcinoma, Somatic:

37
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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UniProtKB/Swiss-Prot genetic disease variations for Basal Cell Carcinoma, Somatic:

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

Cosmic variations for Basal Cell Carcinoma, Somatic:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144925TP53skin,NS,carcinoma,basal cell carcinoma3
244310TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
544167TP53skin,NS,carcinoma,basal cell carcinoma3
643665TP53skin,NS,carcinoma,basal cell carcinoma3
744071TP53skin,NS,carcinoma,basal cell carcinoma3
843702TP53skin,NS,carcinoma,basal cell carcinoma3
910771TP53skin,NS,carcinoma,basal cell carcinoma3
1045015TP53skin,NS,carcinoma,basal cell carcinoma3
1110704TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1344074TP53skin,NS,carcinoma,basal cell carcinoma3
1444096TP53skin,NS,carcinoma,basal cell carcinoma3
1544606TP53skin,NS,carcinoma,basal cell carcinoma3
1643608TP53skin,NS,carcinoma,basal cell carcinoma3
1743616TP53skin,NS,carcinoma,basal cell carcinoma3
1843635TP53skin,NS,carcinoma,basal cell carcinoma3
1910648TP53skin,NS,carcinoma,basal cell carcinoma3
2043700TP53skin,NS,carcinoma,basal cell carcinoma3
2143585TP53skin,NS,carcinoma,basal cell carcinoma3
2243592TP53skin,NS,carcinoma,basal cell carcinoma3
2343577TP53skin,NS,carcinoma,basal cell carcinoma3
2410812TP53skin,NS,carcinoma,basal cell carcinoma3
2510656TP53skin,NS,carcinoma,basal cell carcinoma3
2645420TP53skin,NS,carcinoma,basal cell carcinoma3
2744226TP53skin,NS,carcinoma,basal cell carcinoma3
2810768TP53skin,NS,carcinoma,basal cell carcinoma3
2944603TP53skin,NS,carcinoma,basal cell carcinoma3
306932TP53skin,NS,carcinoma,basal cell carcinoma3
3143582TP53skin,NS,carcinoma,basal cell carcinoma3
3210659TP53skin,NS,carcinoma,basal cell carcinoma3
3343584TP53skin,NS,carcinoma,basal cell carcinoma3
3445739TP53skin,NS,carcinoma,basal cell carcinoma3
3543581TP53skin,NS,carcinoma,basal cell carcinoma3
3645423TP53skin,NS,carcinoma,basal cell carcinoma3
3744097TP53skin,NS,carcinoma,basal cell carcinoma3
3810988TP53skin,NS,carcinoma,basal cell carcinoma3
3944068TP53skin,NS,carcinoma,basal cell carcinoma3
406549TP53skin,NS,carcinoma,basal cell carcinoma3
4110749TP53skin,NS,carcinoma,basal cell carcinoma3
4245424TP53skin,NS,carcinoma,basal cell carcinoma3
4310662TP53skin,NS,carcinoma,basal cell carcinoma3
4410794TP53skin,NS,carcinoma,basal cell carcinoma3
4543837TP53skin,NS,carcinoma,basal cell carcinoma3
4610650TP53skin,NS,carcinoma,basal cell carcinoma3
4710867TP53skin,NS,carcinoma,basal cell carcinoma3
4896963PTCH1skin,NS,carcinoma,basal cell carcinoma3
4924851PTCH1skin,NS,carcinoma,basal cell carcinoma3
5029349PTCH1skin,NS,carcinoma,basal cell carcinoma3
5117547PTCH1skin,NS,carcinoma,basal cell carcinoma3
5217454PTCH1skin,NS,carcinoma,basal cell carcinoma3
5317434PTCH1skin,NS,carcinoma,basal cell carcinoma3
5429348PTCH1skin,NS,carcinoma,basal cell carcinoma3
5517481PTCH1skin,NS,carcinoma,basal cell carcinoma3
5617592PTCH1skin,NS,carcinoma,basal cell carcinoma3
5796960PTCH1skin,NS,carcinoma,basal cell carcinoma3
5896959PTCH1skin,NS,carcinoma,basal cell carcinoma3
5926361PTCH1skin,NS,carcinoma,basal cell carcinoma3
6096957PTCH1skin,NS,carcinoma,basal cell carcinoma3
6196958PTCH1skin,NS,carcinoma,basal cell carcinoma3
6226365PTCH1skin,NS,carcinoma,basal cell carcinoma3
631651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
6426372PTCH1skin,NS,carcinoma,basal cell carcinoma3
65483HRASskin,NS,carcinoma,basal cell carcinoma3
66490HRASskin,NS,carcinoma,basal cell carcinoma3
67486HRASskin,NS,carcinoma,basal cell carcinoma3
6812476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
695662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
70553KRASskin,NS,carcinoma,basal cell carcinoma3
7113146SMOskin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Basal Cell Carcinoma, Somatic

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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
29.3PTCH1, 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:
45Novoseek, 61Tocris Bioscience
See all sources

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

idCompoundScoreTop Affiliating Genes
1cyclopamine45 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:00432319.3PTCH1, SMO
2primary ciliumGO:00723729.2PTCH1, SMO
3caveolaGO:00059019.0PTCH1, SMO

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1somite developmentGO:00610539.5PTCH1, SMO
2renal system developmentGO:00720019.5PTCH1, SMO
3mammary gland epithelial cell differentiationGO:00606449.5PTCH1, SMO
4cellular response to cholesterolGO:00713979.4PTCH1, SMO
5heart morphogenesisGO:00030079.3PTCH1, SMO
6smoothened signaling pathwayGO:00072249.2PTCH1, SMO
7vasculogenesisGO:00015709.1RASA1, SMO
8negative regulation of smoothened signaling pathwayGO:00458799.1PTCH2, PTCH1
9epidermis developmentGO:00085449.0PTCH1, PTCH2

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

idNameGO IDScoreTop Affiliating Genes
1smoothened bindingGO:00051199.0PTCH1, PTCH2
2patched bindingGO:00051139.0PTCH1, SMO
3hedgehog receptor activityGO:00081589.0PTCH1, PTCH2
4hedgehog family protein bindingGO:00971088.9PTCH1, PTCH2

Products for genes affiliated with Basal Cell Carcinoma, Somatic

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Basal Cell Carcinoma, Somatic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet