Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 Biomarker disease GENOMICS_ENGLAND Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel. 26537344 2015
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 Biomarker disease GENOMICS_ENGLAND A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. 17634077 2007
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 GermlineCausalMutation disease ORPHANET Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. 11231969 2001
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 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: 6340
Gene Symbol: SCNN1G
SCNN1G 		0.700 CausalMutation disease CLINVAR
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GermlineCausalMutation disease ORPHANET Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1. 23762408 2013
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GermlineCausalMutation disease ORPHANET Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. 23416952 2013
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GeneticVariation disease BEFREE Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1. 23416952 2013
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GeneticVariation disease UNIPROT Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. 18634878 2008
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GeneticVariation disease UNIPROT Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. 15853823 2005
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 Biomarker disease CTD_human Association of a sodium channel alpha subunit promoter variant with blood pressure. 11752024 2002
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 Biomarker disease GENOMICS_ENGLAND Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. 10586178 1999
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A 		0.610 GeneticVariation disease UNIPROT Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. 10586178 1999
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 Biomarker disease GENOMICS_ENGLAND Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes. 31018202 2019
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 Biomarker disease GENOMICS_ENGLAND Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. 23837941 2014
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 GermlineCausalMutation disease ORPHANET A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1. 23426840 2012
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 Biomarker disease GENOMICS_ENGLAND Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. 15483078 2005
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 GeneticVariation disease UNIPROT Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. 8589714 1996
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B 		0.600 Biomarker disease CTD_human
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.510 Biomarker disease MGD Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. 9689096 1998
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		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
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2 		0.510 Biomarker disease CTD_human