DisGeNET - a database of gene-disease associations

NR3C1, nuclear receptor subfamily 3 group C member 1, 2908

N. diseases: 590; N. variants: 59

Disease: Hypokalemia ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0020621
Disease:	Hypokalemia

Hypokalemia

0.400

Biomarker

phenotype

CTD_human

Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

2002

CUI:	C0020621
Disease:	Hypokalemia

Hypokalemia

0.400

Biomarker

phenotype

HPO