KEGG   VARIANT: 1829v1
Entry
1829v1                      Variant                                
Name
DSG2 mutation
Type
Loss of function
Gene
DSG2  desmoglein-2 preproprotein [KO:K07597]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125671
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
nt06549  Cadherin signaling
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H00294  Dilated cardiomyopathy
Reference
PMID:16773573
  Authors
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP
  Title
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.
  Journal
Am J Hum Genet 79:136-42 (2006)
DOI:10.1086/504393
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