KEGG   VARIANT: 3762v1Help
Entry
3762v1                      Variant                                

Name
KCNJ5 mutation
Gene
KCNJ5  potassium inwardly rectifying channel subfamily J member 5 [KO:K04999]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600734
Network
nt06316  Angiotensin-aldosterone signaling
  Element
N00303  Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
Reference
  Authors
Dutta RK, Soderkvist P, Gimm O
  Title
Genetics of primary hyperaldosteronism.
  Journal
Endocr Relat Cancer 23:R437-54 (2016)
DOI:10.1530/ERC-16-0055
Reference
  Authors
Zennaro MC, Jeunemaitre X, Boulkroun S
  Title
Integrating genetics and genomics in primary aldosteronism.
  Journal
Hypertension 60:580-8 (2012)
DOI:10.1161/HYPERTENSIONAHA.111.188250
Reference
  Authors
Al-Salameh A, Cohen R, Desailloud R
  Title
Overview of the genetic determinants of primary aldosteronism.
  Journal
Appl Clin Genet 7:67-79 (2014)
DOI:10.2147/TACG.S45620
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