DisGeNET - a database of gene-disease associations

HYPERALDOSTERONISM, FAMILIAL, TYPE III, C3150933

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

27099398

2016

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

27099398

2016

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production.

27099398

2016

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

24037882

2013

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

24037882

2013

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.

24037882

2013

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

22315453

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

22203740

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

22628607

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

22275527

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

22308486

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

22848660

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

22628607

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

22315453

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

22308486

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

22203740

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

22848660

2012

dbSNP:

rs587777437

KCNJ5

0.800

GeneticVariation

UNIPROT

Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

22275527

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.

22275527

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

Potassium channel mutant KCNJ5 T158A expression in HAC-15 cells increases aldosterone synthesis.

22315453

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.

22203740

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

22628607

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

22308486

2012

dbSNP:

rs587777438

KCNJ5

0.800

GeneticVariation

UNIPROT

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.

22848660

2012

dbSNP:

rs387906778

KCNJ5

0.800

GeneticVariation

UNIPROT

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

21311022

2011