Disease: Brugada Syndrome 2 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552291
rs72552291
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C2673193
Disease:
Brugada Syndrome 2 		0.800 GeneticVariation UNIPROT GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. 19666841 2009
dbSNP: rs72552291
rs72552291
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C2673193
Disease:
Brugada Syndrome 2 		0.800 GeneticVariation UNIPROT Cardiac Na+ current regulation by pyridine nucleotides. 19745168 2009
dbSNP: rs72552291
rs72552291
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C2673193
Disease:
Brugada Syndrome 2 		0.800 GeneticVariation UNIPROT Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. 17967976 2007
dbSNP: rs72552291
rs72552291
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C2673193
Disease:
Brugada Syndrome 2 		0.800 GeneticVariation UNIPROT Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 17967977 2007
dbSNP: rs72552291
rs72552291
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L
CUI: C2673193
Disease:
Brugada Syndrome 2 		T 0.800 CausalMutation CLINVAR