Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Pseudohypoaldosteronism, Type I, Autosomal Recessive
0.600 Biomarker disease GENOMICS_ENGLAND Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes. 31018202 2019
Pseudohypoaldosteronism, Type I, Autosomal Recessive
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
Pseudohypoaldosteronism, Type I, Autosomal Recessive
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
Pseudohypoaldosteronism, Type I, Autosomal Recessive
0.600 GermlineCausalMutation disease ORPHANET Clinical and molecular features of type 1 pseudohypoaldosteronism. 19571553 2009
Pseudohypoaldosteronism, Type I, Autosomal Recessive
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
Pseudohypoaldosteronism, Type I, Autosomal Recessive
0.600 GeneticVariation disease UNIPROT Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. 8589714 1996
Pseudohypoaldosteronism, Type I, Autosomal Recessive
0.600 Biomarker disease CTD_human