Details of Disease

General Information of Disease (ID: DIS6FI1C)

Disease Name Atrial fibrillation, familial, 11
Synonyms ATFB11; atrial fibrillation, familial, 11; GJA5 familial atrial fibrillation; familial atrial fibrillation caused by mutation in GJA5; atrial fibrillation, familial, type 11
Definition Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.
Disease Hierarchy
DISL4AGF: Familial atrial fibrillation
DIS6FI1C: Atrial fibrillation, familial, 11
Disease Identifiers
MONDO ID
MONDO_0013544
UMLS CUI
C3279693
OMIM ID
614049
MedGen ID
481323

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
GJA5 TTFQKZ7 Strong Autosomal dominant [1]
GJA5 TTFQKZ7 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJA5 OTRMZVO6 Strong Autosomal dominant [1]
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References

1 Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med. 2006 Jun 22;354(25):2677-88. doi: 10.1056/NEJMoa052800.
2 Novel connexin40 missense mutations in patients with familial atrial fibrillation. Europace. 2010 Oct;12(10):1421-7. doi: 10.1093/europace/euq274. Epub 2010 Jul 21.