SMAD4 Gene Mutation

Preferred Label : SMAD4 Gene Mutation;

NCIt synonyms : MADH4 Gene Mutation; MYHRS Gene Mutation; DPC4 Gene Mutation; Mothers Against Decapentaplegic Homolog 4 Gene Mutation; SMAD Family Member 4 Gene Mutation; JIP Gene Mutation; SMAD4/DPC4 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the SMAD4 gene.;

NCI Metathesaurus CUI : CL1412734;

Details

Origin ID

C175395;

UMLS CUI

C5446489;

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]
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
- SMAD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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