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
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 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: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 GeneticVariation disease BEFREE Germline mutations in CACNA1D, which codes for an L-type calcium channel, have so far only been found in 2 cases with a syndrome of primary aldosteronism, seizures, and neurologic abnormalities. 26445452 2015
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 GeneticVariation disease CLINVAR Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 Biomarker disease GENOMICS_ENGLAND Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 GermlineCausalMutation disease ORPHANET Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 Biomarker disease GENOMICS_ENGLAND Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 GeneticVariation disease UNIPROT Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		0.710 CausalMutation disease CLINVAR
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.410 GeneticVariation disease BEFREE Compared with patients without KCNJ5, ATPase, or CACNA1D mutations (wild type), ATPase mutations tended to have more severe hyperaldosteronism and smaller tumors; those with CACNA1D mutations had clinical characteristics and tumor sizes similar to those with wild-type genes. 26606680 2016
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.410 Biomarker disease CTD_human Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. 23913001 2013
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.410 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.400 Biomarker phenotype CTD_human G protein-gated IKACh channels as therapeutic targets for treatment of sick sinus syndrome and heart block. 26831068 2016
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.400 Biomarker phenotype HPO
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE A zona glomerulosa-like APA harbored a known CACNA1D G403R somatic mutation, whereas a zona reticularis-like adenoma, which was grossly black in pigmentation with histologic characteristics more associated with cortisol-producing adenomas, expressed CYP11B2, CYP17, and DHEA-ST by immunohistochemistry (IHC) and harbored no known somatic mutations. 28368480 2017