Gene: SCNN1B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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