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 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 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 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 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 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 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 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 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 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 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: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 GeneticVariation disease BEFREE Syndromes of aldosterone resistance have been also characterized molecularly and mutations in the gene MLR, encoding mineralocorticoid receptor, and in the genes SNCC1A, SNCC1B, and SCNN1G, encoding subunits of the epithelial Na+ channel, have been found in dominant and recessive forms of pseudohypoaldosteronism type 1, respectively. 11045400 2000
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 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: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 GeneticVariation disease BEFREE Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). 23416952 2013
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 GeneticVariation disease BEFREE Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is a rare Mendelian disorder characterised by end-organ unresponsiveness to mineralocorticoids. 8824886 1996
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 GeneticVariation disease BEFREE Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids. 8640238 1996
CUI: C0268436
Disease: Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I 		0.560 GeneticVariation disease BEFREE Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. 21750640 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE Liddle's syndrome of hypertension and pseudoaldosteronism has been shown to arise from mutations in SCNN1B and SCNN1G. 8824886 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group LHGDN Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension. 15661075 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.500 GeneticVariation group BEFREE The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes. 15198480 2004
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 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: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 GeneticVariation disease LHGDN Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. 12107247 2002
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism 		0.430 GeneticVariation disease BEFREE One girl showed pseudohypoaldosteronism related to mutations of the SCNN1G gene encoding for the epithelial sodium channel. 27485500 2016