Details of Disease

General Information of Disease (ID: DISAVEMK)

Disease Name Thrombocytopenia, anemia, and myelofibrosis
Synonyms THAMY; thrombocytopenia, anemia, and myelofibrosis
Disease Hierarchy
DISYKSRF: Genetic disease
DISAVEMK: Thrombocytopenia, anemia, and myelofibrosis
Disease Identifiers
MONDO ID
MONDO_0044316
UMLS CUI
C4479504
OMIM ID
617441
MedGen ID
1378448

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
MPIG6B OTVNKQWA 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.