Details of Disease | DrugMAP

General Information of Disease (ID: DIS9UW4J)

Disease Name	Fanconi anemia, complementation group S
Synonyms	Fanconi anemia, complementation GROUP S; FANCS; Fanconi anemia, complementation group S
Disease Hierarchy	DISGW6Q8: Fanconi's anemia DIS9UW4J: Fanconi anemia, complementation group S
Disease Identifiers	MONDO ID MONDO_0054748 UMLS CUI C4554406 OMIM ID 617883 MedGen ID 1632414

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
BRCA1	OT5BN6VH	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.