Basal Cell Carcinoma Pathway

Preferred Label : Basal Cell Carcinoma Pathway;

NCIt related terms : Basal cell carcinoma;

Alternative definition : KEGG: The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. Normally, ligand-dependent signaling by Hedgehog (Hh) homologs proceeds through binding to the Patched receptor. This binding relieves the Patched-mediated inhibition of signaling through the Smoothened (SMOH) gene product. This signaling ultimately results in the dissociation of the Gli1 transcription factor from an inhibitory complex in the cytoplasm, its subsequent translocation to the nucleus, and activation of target gene expression. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency ( 50%) in sporadic BCC.;

KEGG ID : hsa05217;

Details

Origin ID

C91513;

UMLS CUI

C2984322;

Automatic exact mappings (from CISMeF team)
- BASAL CELL CARCINOMA [WHO-ART Preferred Term]
- Basal cell carcinoma [PASCAL descriptor]
- Basal cell carcinoma [MedDRA Preferred Term]
- Basal cell carcinoma [HPO term]
- Basal cell carcinoma (morphologic abnormality) [SNOMED CT concept]
- CARCINOMA BASAL CELL [WHO-ART Included Term]
- Carcinoma basal cell [MedDRA LLT]
- basal cell carcinoma [DO Concept]
- carcinoma, basal cell [MeSH Descriptor]
- carcinoma, basal cell [MeSH concept]
- skin cancer [MedlinePlus Topic]
Semantic type(s)
- Functional Concept [UMLS semantic type]
has_gene_product_element
- Adenomatous Polyposis Coli Protein [NCIt concept]
- Adenomatous Polyposis Coli Protein 2 [NCIt concept]
- Axin-1 [NCIt concept]
- Bone Morphogenetic Protein 2 [NCIt concept]
- Bone Morphogenetic Protein 4 [NCIt concept]
- Catenin Beta-1 [NCIt concept]
- Frizzled-1 [NCIt concept]
- Frizzled-2 [NCIt concept]
- Frizzled-3 [NCIt concept]
- Frizzled-4 [NCIt concept]
- Frizzled-6 [NCIt concept]
- Frizzled-7 [NCIt concept]
- Frizzled-8 [NCIt concept]
- Frizzled-9 [NCIt concept]
- Glycogen Synthase Kinase-3 Beta [NCIt concept]
- Hedgehog-Interacting Protein [NCIt concept]
- Kinesin-Like Protein KIF7 [NCIt concept]
- Lymphoid Enhancer-Binding Factor 1 [NCIt concept]
- Protein Patched Homolog 1 [NCIt concept]
- Protein Patched Homolog 2 [NCIt concept]
- Protein Wnt-10a [NCIt concept]
- Protein Wnt-10b [NCIt concept]
- Protein Wnt-11 [NCIt concept]
- Protein Wnt-16 [NCIt concept]
- Protein Wnt-2 [NCIt concept]
- Protein Wnt-2b [NCIt concept]
- Protein Wnt-4 [NCIt concept]
- Protein Wnt-5a [NCIt concept]
- Protein Wnt-5b [NCIt concept]
- Protein Wnt-6 [NCIt concept]
- Protein Wnt-7a [NCIt concept]
- Protein Wnt-9a [NCIt concept]
- Proto-Oncogene Wnt-1 [NCIt concept]
- Proto-Oncogene Wnt-3 [NCIt concept]
- Segment Polarity Protein Dishevelled Homolog DVL-1 [NCIt concept]
- Smoothened Homolog [NCIt concept]
- Sonic Hedgehog Protein [NCIt concept]
- Suppressor of Fused Homolog [NCIt concept]
- Transcription Factor 7 [NCIt concept]
- Transcription Factor 7-Like 1 [NCIt concept]
- Transcription Factor 7-Like 2 [NCIt concept]
- Zinc Finger Protein GLI1 [NCIt concept]
- Zinc Finger Protein GLI2 [NCIt concept]
pathway_has_gene_element
- APC wt Allele [NCIt concept]
- APC2 wt Allele [NCIt concept]
- AXIN1 wt Allele [NCIt concept]
- AXIN2 wt Allele [NCIt concept]
- BMP2 wt Allele [NCIt concept]
- BMP4 wt Allele [NCIt concept]
- CTNNB1 wt Allele [NCIt concept]
- DVL1 wt Allele [NCIt concept]
- FZD1 wt Allele [NCIt concept]
- FZD2 wt Allele [NCIt concept]
- FZD3 wt Allele [NCIt concept]
- FZD4 wt Allele [NCIt concept]
- FZD6 wt Allele [NCIt concept]
- FZD7 wt Allele [NCIt concept]
- FZD8 wt Allele [NCIt concept]
- FZD9 wt Allele [NCIt concept]
- GLI1 wt Allele [NCIt concept]
- GLI2 wt Allele [NCIt concept]
- GSK3B wt Allele [NCIt concept]
- HHIP wt Allele [NCIt concept]
- KIF7 wt Allele [NCIt concept]
- LEF1 wt Allele [NCIt concept]
- PTCH1 wt Allele [NCIt concept]
- PTCH2 wt Allele [NCIt concept]
- SHH wt Allele [NCIt concept]
- SMO wt Allele [NCIt concept]
- SUFU wt Allele [NCIt concept]
- TCF7 wt Allele [NCIt concept]
- TCF7L1 wt Allele [NCIt concept]
- TCF7L2 wt Allele [NCIt concept]
- WNT1 wt Allele [NCIt concept]
- WNT10A wt Allele [NCIt concept]
- WNT10B wt Allele [NCIt concept]
- WNT11 wt Allele [NCIt concept]
- WNT16 wt Allele [NCIt concept]
- WNT2 wt Allele [NCIt concept]
- WNT2B wt Allele [NCIt concept]
- WNT3 wt Allele [NCIt concept]
- WNT4 wt Allele [NCIt concept]
- WNT5A wt Allele [NCIt concept]
- WNT5B wt Allele [NCIt concept]
- WNT6 wt Allele [NCIt concept]
- WNT7A wt Allele [NCIt concept]
- WNT9A wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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