Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GeneticVariation disease BEFREE However, several kindreds with clinical signs of PHA1 but without NR3C2 gene mutations or deletions are reported. 17317952 2007
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GeneticVariation disease UNIPROT Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. 16972228 2007
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GeneticVariation disease UNIPROT Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 16954160 2006
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GeneticVariation disease BEFREE Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. 16954160 2006
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 GeneticVariation disease UNIPROT Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. 12788847 2003
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.670 Biomarker disease CTD_human
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		0.300 Biomarker disease CTD_human Phosphatidylinositol 3-kinase/Akt signaling pathway activates the WNK-OSR1/SPAK-NCC phosphorylation cascade in hyperinsulinemic db/db mice. 22949526 2012
Entrez Id: 26249
Gene Symbol: KLHL3
KLHL3 		0.300 Biomarker disease CTD_human KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. 22406640 2012
Entrez Id: 65266
Gene Symbol: WNK4
WNK4 		0.300 Biomarker disease CTD_human Phosphatidylinositol 3-kinase/Akt signaling pathway activates the WNK-OSR1/SPAK-NCC phosphorylation cascade in hyperinsulinemic db/db mice. 22949526 2012
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.300 Biomarker disease CTD_human Association of a sodium channel alpha subunit promoter variant with blood pressure. 11752024 2002
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.300 Biomarker disease CTD_human A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. 8640238 1996
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.300 Biomarker disease CTD_human
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.300 Biomarker disease CTD_human
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1 		0.300 Biomarker disease CTD_human
Entrez Id: 8675
Gene Symbol: STX16
STX16 		0.300 Biomarker disease CTD_human
Entrez Id: 8452
Gene Symbol: CUL3
CUL3 		0.100 GeneticVariation disease CLINVAR