Details of Disease

General Information of Disease (ID: DISH59M7)

Disease Name Atrioventricular septal defect, susceptibility to, 2
Synonyms
AVSD2; susceptibility to atrioventricular septal defect 2; atrioventricular septal defect, partial, with heterotaxy syndrome; atrioventricular septal defect, susceptibility to, 2; atrioventricular septal defect caused by mutation in CRELD1; CRELD1 atrioventricular septal defect; atrioventricular septal defect, susceptibility to, type 2
Definition Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISH59M7: Atrioventricular septal defect, susceptibility to, 2
Disease Identifiers
MONDO ID
MONDO_0011650
UMLS CUI
C1853508
OMIM ID
606217
MedGen ID
381193

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
CRELD1 OTBSPZFP Strong Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.