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Fanconi anemia complementation group E
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Disease Ontology Description A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.
Mondo Term and Equivalent IDs
MONDO:0010953: Fanconi anemia complementation group E
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111084
NCIT:C125709
OMIM:600901
UMLS:C3160739
MONDO:0010953
High level summary of knowledge for a disease, including descriptions and datasource references.