PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE PPA2 encodes a mitochondrially located inorganic pyrophosphatase implicated in progressive and lethal cardiomyopathies. 31705601 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 Biomarker group BEFREE These findings confirm the pathogenicity of PPA2 mutations and suggest that PPA2 is a cardiomyopathy-associated protein, which has a greater physiological importance in mitochondrial function than previously recognized. 27523597 2016