BVES, blood vessel epicardial substance, 11149

N. diseases: 43; N. variants: 5
Disease: Adverse Event Associated with Cardiac Arrhythmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.020 AlteredExpression phenotype BEFREE Consistent with its predominant expression in striated muscle, Popdc1 and Popdc2 null mutants in mouse and zebrafish develop cardiac arrhythmia and muscular dystrophy. 31197601 2019
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.020 GeneticVariation phenotype BEFREE Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases. 26642364 2016