DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Congestive heart failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 GeneticVariation disease BEFREE Desmoplakin mutation carriers experienced more than four-fold occurrence of left ventricular dysfunction (40%) and HF (13%) than PKP2 carriers. 25616645 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 GeneticVariation disease BEFREE This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. 21789513 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 AlteredExpression disease BEFREE Besides the reported upregulation of beta-adrenergic receptor kinase-1 in heart failure, we observed new gene expression patterns, such as the upregulation of fas-activated serine/threonine kinase (FAST) or reduced expression of desmoplakin. 18649053 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 Biomarker disease BEFREE Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.140 GeneticVariation disease CLINVAR