DisGeNET - a database of gene-disease associations

Pseudohypoaldosteronism, Type I, Autosomal Dominant, C1449842

Variant: rs121912563 ×

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:

rs121912563

NR3C2

0.800

GeneticVariation

UNIPROT

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

16972228

2007

dbSNP:

rs121912563

NR3C2

0.800

GeneticVariation

UNIPROT

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

16954160

2006

dbSNP:

rs121912563

NR3C2

0.800

GeneticVariation

UNIPROT

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

12788847

2003

dbSNP:

rs121912563

NR3C2

0.800

GeneticVariation

UNIPROT

A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

11134129

2000

dbSNP:

rs121912563

NR3C2

0.800

CausalMutation

CLINVAR