POMT1, protein O-mannosyltransferase 1, 10585

N. diseases: 223; N. variants: 32
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 GeneticVariation group BEFREE The report on the patients described here has widened the clinical spectrum associated with POMT1 mutations to include cardiomyopathy. 22549409 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.110 Biomarker group HPO