Disease: Progressive Familial Heart Block, Type Ib ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 Biomarker disease GENOMICS_ENGLAND Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block. 30021168 2018
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 GeneticVariation disease UNIPROT Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. 21887725 2012
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 GeneticVariation disease UNIPROT Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. 20562447 2010
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 GeneticVariation disease UNIPROT Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 19726882 2009
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 GeneticVariation disease CLINVAR
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 Biomarker disease CTD_human
CUI: C1970298
Disease: Progressive Familial Heart Block, Type Ib
Progressive Familial Heart Block, Type Ib 		0.700 CausalMutation disease CLINVAR