PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Hypertrophic, Familial
0.110 GeneticVariation disease CLINVAR
Cardiomyopathy, Hypertrophic, Familial
0.110 GeneticVariation disease BEFREE We found a heterozygous single nucleotide transition from A to G at -77-bp upstream of the transcription start site in the phospholamban promoter region of one patient with familial hypertrophic cardiomyopathy. 12705874 2003