DisGeNET - a database of gene-disease associations

NR5A1, nuclear receptor subfamily 5 group A member 1, 2516

N. diseases: 255; N. variants: 38

Disease: PREMATURE OVARIAN FAILURE 7 (disorder) ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918655

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in NR5A1 associated with ovarian insufficiency.

19246354

2009

dbSNP:

rs121918655

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894118

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

26523528

2016

dbSNP:

rs104894119

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

26523528

2016

dbSNP:

rs200749741

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

Mutations in NR5A1 associated with ovarian insufficiency.

19246354

2009

dbSNP:

rs104894118

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

11038323

2000

dbSNP:

rs104894119

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.

11038323

2000

dbSNP:

rs121918656

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs200163795

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs606231206

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs606231207

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs606231208

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

CUI:	C2751825
Disease:

PREMATURE OVARIAN FAILURE 7 (disorder)

0.700

CausalMutation

CLINVAR