FKBP1B, FKBP prolyl isomerase 1B, 2281

N. diseases: 17; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
0.210 Biomarker disease BEFREE In calstabin-2-deficient mice, we have now documented diastolic SR Ca2+ leak, monophasic action potential alternans, and bidirectional VT. Calstabin-deficient cardiomyocytes exhibited SR Ca2+ leak-induced aberrant transient inward currents in diastole consistent with delayed after-depolarizations. 16672364 2006
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular
0.210 Biomarker disease MGD