Gene: SCNN1A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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