Details of Disease

General Information of Disease (ID: DISW4351)

Disease Name Atrial septal defect 6
Synonyms ASD6; atrial heart septal defect caused by mutation in TLL1; atrial heart septal defect type 6; TLL1 atrial heart septal defect; atrial septal defect type 6; atrial septal defect 6
Definition Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.
Disease Hierarchy
DISJT76B: Atrial septal defect
DISW4351: Atrial septal defect 6
Disease Identifiers
MONDO ID
MONDO_0013123
MESH ID
C567764
UMLS CUI
C2751315
OMIM ID
613087
MedGen ID
414348

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
TLL1 OTK9NM7G Limited 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.