Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 Biomarker group BEFREE Loss of the largest isoform Nesprin-2 Giant in mice is associated with a skin phenotype and altered wound healing, loss of C-terminal isoforms in mice leads to cardiomyopathies and neurological defects. 30220251 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 GeneticVariation group BEFREE To test this, we analyzed RNA-Seq datasets, finding novel isoforms or isoform tissue-specificity for: Lap2, linked to cardiomyopathy; Nesprin 2, linked to Emery-Dreifuss muscular dystrophy and Lmo7, that regulates the Emery-Dreifuss muscular dystrophy linked emerin gene. 29912636 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.120 Biomarker group HPO