PTCH1 Gene - CISMeF

Preferred Label : PTCH1 Gene;

NCIt synonyms : Patched Homolog 1 Gene; PTCH Gene;

NCIt related terms : PTCH1;

CISMeF acronym : PTCH1;

NCIt definition : This gene is involved in tumor suppression and mutations in this gene have been associated with several cancers and cancer related diseases.;

Details

Origin ID

C18255;

UMLS CUI

C1826732;

Automatic exact mappings (from CISMeF team)
- PTCH gene [LOINC component]
- Patched 1 [OMIM gene]
- patched 1 [ORDO Gene]
HGNC gene
- patched 1 [HGNC gene]
OMIM relation
- Patched 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Patched 1 [OMIM gene]
- patched 1 [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Protein Patched Homolog 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- PTCH Gene Inactivation [NCIt concept]
gene_involved_in_molecular_abnormality
- PTCH Gene Inactivation [NCIt concept]
- PTCH1 Gene Deletion [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTCH1 Gene Rearrangement [NCIt concept]
- PTCH1 NM_000264.4:c.3583A>T [NCIt concept]
- PTCH1 NP_000255.2:p.T1195S [NCIt concept]
- PTCH1 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fetal Rhabdomyoma [NCIt concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
gene_mapped_to_disease
- Anal Margin Basal Cell Carcinoma [NCIt concept]
- Classic Rhabdomyoma [NCIt concept]
- External Ear Basal Cell Carcinoma [NCIt concept]
- Eyelid Basal Cell Carcinoma [NCIt concept]
- Fetal Rhabdomyoma [NCIt concept]
- Intermediate Rhabdomyoma [NCIt concept]
- Lip Basal Cell Carcinoma [NCIt concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- Penile Basal Cell Carcinoma [NCIt concept]
- Recurrent Lip Basal Cell Carcinoma [NCIt concept]
- Scrotal Basal Cell Carcinoma [NCIt concept]
- Skin Adamantinoid Basal Cell Carcinoma [NCIt concept]
- Skin Adenoid Basal Cell Carcinoma [NCIt concept]
- Skin Basal Cell Carcinoma [NCIt concept]
- Skin Basal Cell Carcinoma with Adnexal Differentiation [NCIt concept]
- Skin Basal Cell Carcinoma with Sarcomatoid Differentiation [NCIt concept]
- Skin Basal Cell Carcinoma with Sebaceous Differentiation [NCIt concept]
- Skin Basosquamous Cell Carcinoma [NCIt concept]
- Skin Clear Cell Basal Cell Carcinoma [NCIt concept]
- Skin Cystic Basal Cell Carcinoma [NCIt concept]
- Skin Fibroepithelial Basal Cell Carcinoma [NCIt concept]
- Skin Follicular Basal Cell Carcinoma [NCIt concept]
- Skin Infiltrating Basal Cell Carcinoma [NCIt concept]
- Skin Infundibulocystic Basal Cell Carcinoma [NCIt concept]
- Skin Keratotic Basal Cell Carcinoma [NCIt concept]
- Skin Metatypical Carcinoma [NCIt concept]
- Skin Micronodular Basal Cell Carcinoma [NCIt concept]
- Skin Nodular Basal Cell Carcinoma [NCIt concept]
- Skin Nodular Solid Basal Cell Carcinoma [NCIt concept]
- Skin Nodulo-Ulcerative Basal Cell Carcinoma [NCIt concept]
- Skin Pigmented Basal Cell Carcinoma [NCIt concept]
- Skin Sclerosing/Morphoeic Basal Cell Carcinoma [NCIt concept]
- Skin Signet Ring Cell Basal Cell Carcinoma [NCIt concept]
- Stage 0 Lip Basal Cell Carcinoma AJCC v6 and v7 [NCIt concept]
- Stage I Lip Basal Cell Carcinoma [NCIt concept]
- Stage II Lip Basal Cell Carcinoma [NCIt concept]
- Stage III Lip Basal Cell Carcinoma [NCIt concept]
- Stage IV Lip Basal Cell Carcinoma [NCIt concept]
- Stage IVA Basal Cell Lip Carcinoma [NCIt concept]
- Stage IVB Basal Cell Lip Carcinoma [NCIt concept]
- Stage IVC Basal Cell Lip Carcinoma [NCIt concept]
- Superficial Basal Cell Carcinoma [NCIt concept]
- Superficial Multifocal Basal Cell Carcinoma [NCIt concept]
- Unresectable Skin Basal Cell Carcinoma [NCIt concept]
- Vulvar Basal Cell Carcinoma [NCIt concept]
gene_plays_role_in_process
- Embryogenesis [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Receptor Signaling [NCIt concept]
genetic_biomarker_related_to
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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