Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 GeneticVariation disease BEFREE In conclusion, we identified new and known variants in CACNA1D in five Pakistani families with SANDD. 30498240 2019
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease GENOMICS_ENGLAND Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D. 30054272 2018
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease GENOMICS_ENGLAND Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease GENOMICS_ENGLAND Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease CLINGEN Retrocochlear function of the peripheral deafness gene Cacna1d. 22678062 2012
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease CLINGEN We describe a human channelopathy (termed SANDD syndrome, sinoatrial node dysfunction and deafness) with a cardiac and auditory phenotype that closely resembles that of Cacna1d(-/-) mice. 21131953 2011
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 GermlineCausalMutation disease ORPHANET We describe a human channelopathy (termed SANDD syndrome, sinoatrial node dysfunction and deafness) with a cardiac and auditory phenotype that closely resembles that of Cacna1d(-/-) mice. 21131953 2011
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease BEFREE We describe a human channelopathy (termed SANDD syndrome, sinoatrial node dysfunction and deafness) with a cardiac and auditory phenotype that closely resembles that of Cacna1d(-/-) mice. 21131953 2011
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease CLINGEN Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 CausalMutation disease CLINVAR
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease GENOMICS_ENGLAND