Details of Disease

General Information of Disease (ID: DISHG6IF)

Disease Name Fanconi anemia complementation group G
Synonyms
Fanconi anemia, complementation group G; Fanconi anemia complementation group type G; FANCG; Fanconi Anemia, complementation group type G; Fanconi anemia complementation group G; Fanconi anaemia complementation group type G
Definition Fanconi anemia caused by mutations of the FANCG gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISHG6IF: Fanconi anemia complementation group G
Disease Identifiers
MONDO ID
MONDO_0013565
UMLS CUI
C3469527
OMIM ID
614082
MedGen ID
854017

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
FANCG OT7MC8TZ Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.