Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 GeneticVariation BEFREE Indeed, we identified an L2483R mutation in the ryanodine receptor type 2 (RyR2) in a 2-month-old male patient with VSD with HF. 30308486

2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 AlteredExpression BEFREE We observed a significantly lower expression of PLN and SLN in TOF patients, while there was no difference between the expression of SERCA2a and RyR2 in TOF and VSD. 17515962

2007