Details of Disease

General Information of Disease (ID: DIST1JCO)

Disease Name Dilated cardiomyopathy 2B
Synonyms
cardiomyopathy, dilated, 2B; CMD2B; GATAD1 familial isolated dilated cardiomyopathy; dilated cardiomyopathy type 2B; familial isolated dilated cardiomyopathy caused by mutation in GATAD1; cardiomyopathy, dilated, type 2B; dilated cardiomyopathy 2B
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DIST1JCO: Dilated cardiomyopathy 2B
Disease Identifiers
MONDO ID
MONDO_0013848
UMLS CUI
C3553409
OMIM ID
614672
MedGen ID
766323

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
GATAD1 OT0UZ3EP Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.