Fanconi Anemia, Complementation Group E

Preferred Label : Fanconi Anemia, Complementation Group E;

NCIt definition : Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.;

Details

Origin ID

C125709;

UMLS CUI

C3160739;

Currated CISMeF NLP mapping
- Fanconi anemia complementation group E [DO Concept]
- Fanconi anemia, complementation group e [OMIM Phenotype]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- FA complementation group E [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia complementation group E [DO Concept]
- Fanconi anemia, complementation group e [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_disease
- Anemia [NCIt concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- FANCE Gene Mutation [NCIt concept]
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_mapped_to_gene
- FANCE Gene [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- FANCE Gene [NCIt concept]
- FANCE wt Allele [NCIt concept]
related_to_genetic_biomarker
- FANCE Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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