PTCH1 Gene Mutation

Preferred Label : PTCH1 Gene Mutation;

NCIt synonyms : Patched 1 Gene Mutation; PTC Gene Mutation; PTCH Gene Mutation; PTC1 Gene Mutation; Patched Homolog 1 Gene Mutation; Patched Homolog (Drosophila) Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the PTCH1 gene.;

NCI Metathesaurus CUI : CL520472;

Détails

Origin ID

C133669;

UMLS CUI

C4524808;

Molecular abnormality of diseases
- Medulloblastoma, SHH-4 [NCIt concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- Odontogenic Keratocyst [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Pediatric Oncology Target Molecular Abnormalities Terminology [NCIt concept]
is_molecular_abnormality_of_disease
- Classic Rhabdomyoma [NCIt concept]
- Fetal Rhabdomyoma [NCIt concept]
- Intermediate Rhabdomyoma [NCIt concept]
is_not_molecular_abnormality_of_disease
- Aggravated Neurofibromatosis [NCIt concept]
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas [NCIt concept]
- Neurofibromatosis Type 2 [NCIt concept]
- Phakomatosis [NCIt concept]
- Recurrent Neurofibromatosis Type 1 [NCIt concept]
- Refractory Neurofibromatosis Type 1 [NCIt concept]
- Sturge-Weber Syndrome [NCIt concept]
- Tuberous Sclerosis [NCIt concept]
- Tuberous Sclerosis 1 [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- PTCH1 Gene [NCIt concept]

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