Disease: Liddle Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS. 30977777 2019
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. 28718682 2018
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 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
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 Biomarker disease BEFREE We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome. 25378078 2015
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE The sequence of C-terminus of SCNN1B and SCNN1G were screened in the two families with likely Liddle syndrome. 24474657 2014
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE We screened an adolescent with severe hypertension who was clinically diagnosed with Liddle syndrome for mutations in the C-terminus of the SCNN1B and SCNN1G genes. 22809657 2013
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family. 22613642 2012
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension. 20064610 2010
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome. 18398334 2008
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE In accord, loss of function mutations in ENaC (PHA1) cause hypotension, whereas gain of function mutations (Liddle syndrome) result in hypertension. 18691017 2008
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE The purpose of this study was to determine whether mutations of SCNN1B or SCNN1G were present in a patient clinically suspected to have Liddle syndrome with no familial history of hypertension. 17634077 2007
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GeneticVariation disease BEFREE The SCNN1G gene, located on human chromosome 16p12, encodes the gamma subunit of the amiloride-sensitive epithelial sodium channel, and mutations in SCNN1G can result in Liddle's syndrome or pseudohypoaldosteronism type I. 11463765 2001
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 Biomarker disease BEFREE These results strongly suggest that PHA1 and Liddle's syndrome are allelic variants caused by mutations in genes encoding subunits of this sodium channel. 8824886 1996
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.600 GermlineCausalMutation disease ORPHANET