Details of Disease

General Information of Disease (ID: DISWZRYW)

Disease Name Congenital heart defects, multiple types
Synonyms CHTD
Definition Genetic heterogeneity of OMIM:306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease.
Disease Hierarchy
DISQBA23: Congenital heart disease
DISWZRYW: Congenital heart defects, multiple types

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKRD11 OTV0V70M Limited Autosomal dominant [1]
ASB17 OT6ZHIC8 Limited Autosomal dominant [1]
DLC1 OTP8LMCR Limited Autosomal dominant [1]
CITED2 OT812TV7 Moderate Autosomal dominant [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.