Details of Disease | DrugMAP

General Information of Disease (ID: DISFBN2G)

Disease Name	Congenital heart defects and ectodermal dysplasia
Synonyms	CHDED; congenital heart defects and ectodermal dysplasia
Disease Hierarchy	DISYKSRF: Genetic disease DISFBN2G: Congenital heart defects and ectodermal dysplasia
Disease Identifiers	MONDO ID MONDO_0044303 UMLS CUI C4479250 OMIM ID 617364 MedGen ID 1387409

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKD1	TTSLUMT	moderate	Genetic Variation	[1]
PRKD1	TTSLUMT	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKD1	OTXIOYD2	Strong	Autosomal dominant	[2]
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References

1	Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.
2	14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet. 2009 Mar-Jun;52(2-3):148-52. doi: 10.1016/j.ejmg.2009.03.004. Epub 2009 Mar 19.