Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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