Disease: Pseudohypoaldosteronism, Type I, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852635
rs137852635
Entrez Id: 6337;107984500
Gene Symbol: SCNN1A;LOC107984500
SCNN1A;LOC107984500
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. 18634878 2008
dbSNP: rs137852635
rs137852635
Entrez Id: 6337;107984500
Gene Symbol: SCNN1A;LOC107984500
SCNN1A;LOC107984500
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. 15853823 2005
dbSNP: rs137852635
rs137852635
Entrez Id: 6337;107984500
Gene Symbol: SCNN1A;LOC107984500
SCNN1A;LOC107984500
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. 10586178 1999
dbSNP: rs137852635
rs137852635
Entrez Id: 6337;107984500
Gene Symbol: SCNN1A;LOC107984500
SCNN1A;LOC107984500
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR