Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. 20453518 2010
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE However, several kindreds with clinical signs of PHA1 but without NR3C2 gene mutations or deletions are reported. 17317952 2007
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease UNIPROT Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 16972228 2007
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Mutations in the mineralocorticoid receptor gene (MR) cause adPHA1, but the long-term consequences of MR deficiency in humans are not known. 16611713 2006
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GermlineCausalMutation disease ORPHANET Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. 16757525 2006
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease UNIPROT Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 16954160 2006
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 16954160 2006
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. 16757525 2006
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. 15126534 2004
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease UNIPROT Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 12788847 2003
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 Biomarker disease GENOMICS_ENGLAND Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. 12483305 2003
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease BEFREE Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. 12679457 2003
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 GeneticVariation disease UNIPROT A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. 11134129 2000
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Dominant 		0.670 Biomarker disease CTD_human
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 Biomarker disease GENOMICS_ENGLAND Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population. 19325532 2009
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 GeneticVariation disease UNIPROT Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension. 15908963 2005
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 GeneticVariation disease UNIPROT A ligand-mediated hydrogen bond network required for the activation of the mineralocorticoid receptor. 15967794 2005
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 Biomarker disease GENOMICS_ENGLAND Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. 12483305 2003
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 GeneticVariation disease UNIPROT Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. 10884226 2000
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 Biomarker disease CTD_human
CUI: C1854631
Disease: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 		0.600 GermlineCausalMutation disease ORPHANET
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.510 Biomarker disease MGD Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. 9689096 1998
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.510 GeneticVariation disease BEFREE Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. 7593448 1995
CUI: C1449843
Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.510 Biomarker disease CTD_human