Details of Disease

General Information of Disease (ID: DISB1IL9)

Disease Name Fanconi anemia complementation group P
Synonyms
Fanconi anemia, complementation group P; Slx4 Fanconi anaemia; Fanconi anaemia caused by mutation in SLX4; Fanconi anemia caused by mutation in SLX4; Fanconi anaemia complementation group type P; Fanconi anemia complementation group type P; SLX4 Fanconi anemia; Fanconi Anemia, complementation group type P; Slx4 Fanconi anemia; SLX4 Fanconi anaemia; Fanconi anaemia caused by mutation in Slx4; FANCP; Fanconi anemia caused by mutation in Slx4
Definition Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.
Disease Hierarchy
DISGW6Q8: Fanconi's anemia
DISB1IL9: Fanconi anemia complementation group P
Disease Identifiers
MONDO ID
MONDO_0013499
UMLS CUI
C3469542
OMIM ID
613951
MedGen ID
854020

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
SLX4 OTF6236I 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.