Details of Disease

General Information of Disease (ID: DISCD3U7)

Disease Name Fanconi anemia complementation group I
Synonyms
Fanconi Anemia, complementation Group 1; Fanconi anemia, complementation group I; Fanconi anemia complementation group type I; Fanconi anaemia complementation group type I; Fanconi Anemia, complementation group type 1; FANCI; Fanconi anemia complementation group I
Definition Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISCD3U7: Fanconi anemia complementation group I
Disease Identifiers
MONDO ID
MONDO_0012186
UMLS CUI
C1836861
OMIM ID
609053
MedGen ID
323016

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FANCI OTW8E3SC Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.