PTCH1 wt Allele

Preferred Label : PTCH1 wt Allele;

NCIt synonyms : BCNS; PTCH; HPE7; PTC1; PTC; Patched (Drosophila) Homolog Gene; NBCCS; PTCH wt Allele; Patched Homolog 1 (Drosophila) Gene; Patched Homolog (Drosophila) Gene; Patched 1 wt Allele; Patched, Drosophila, Homolog of, 1 Gene;

NCIt definition : Human PTCH1 wild-type allele is located in the vicinity of 9q22.3 and is approximately 65 kb in length. This allele, which encodes protein patched homolog 1 protein, plays a role in embryonic structure formation and tumor suppression. Mutations of the gene have been associated with several cancers and disease phenotypes, including: nevoid basal cell carcinoma syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, and holoprosencephaly.;

GenBank Accession Number : U43148;

Details

Origin ID

C51720;

UMLS CUI

C1705339;

Automatic exact mappings (from CISMeF team)
- Coagulation factor IX (substance) [SNOMED CT concept]
- Coagulation factor ix [OMIM gene]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Holoprosencephaly 7 [OMIM Phenotype]
- Patched 1 [OMIM gene]
- Taste receptor, type 2, member 38 [OMIM gene]
- Thyroid cancer, nonmedullary, 1 [OMIM Phenotype]
- basal cell nevus syndrome [MeSH Descriptor]
- blood-coagulation factor ix [Substance BNPC]
- coiled-coil domain containing 6 [ORDO Gene]
- factor IX [Blood Transfusion thesaurus concept]
- factor IX [MeSH concept]
- factor IX [MeSH Descriptor]
- holoprosencephaly 7 [DO Concept]
- nevoid basal cell carcinoma syndrome [DO Concept]
- patched 1 [ORDO Gene]
- ret proto-oncogene [ORDO Gene]
False automatic mappings
- Basal cell nevus syndrome 1 [OMIM Phenotype]
OMIM relation
- Patched 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- PTCH Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 9q22.3 [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_is_element_in_pathway
- Axon Guidance Pathway [NCIt concept]
- Basal Cell Carcinoma Pathway [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
- Ptc1 Regulation of Cell Cycle Pathway [NCIt concept]
- Sonic Hedgehog Pathway [NCIt concept]
gene_plays_role_in_process
- Embryogenesis [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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