DisGeNET - a database of gene-disease associations

46,XY Sex Reversal 3, C3489793

Gene: NR5A1 ×

Source: UNIPROT ×

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:

rs104894119

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs104894119

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs104894120

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs104894120

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs104894124

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs104894124

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs104894125

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs104894125

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs104894126

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs104894126

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs121918654

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs121918654

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs886039769

NR5A1

0.800

GeneticVariation

UNIPROT

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

27490115

2017

dbSNP:

rs886039769

NR5A1

0.800

GeneticVariation

UNIPROT

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

28459839

2017

dbSNP:

rs104894119

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs104894120

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs104894124

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs104894125

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs104894126

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs121918654

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs886039769

NR5A1

0.800

GeneticVariation

UNIPROT

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

27378692

2016

dbSNP:

rs104894119

NR5A1

0.800

GeneticVariation

UNIPROT

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

24405868

2014

dbSNP:

rs104894120

NR5A1

0.800

GeneticVariation

UNIPROT

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

24405868

2014

dbSNP:

rs104894124

NR5A1

0.800

GeneticVariation

UNIPROT

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

24405868

2014

dbSNP:

rs104894125

NR5A1

0.800

GeneticVariation

UNIPROT

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

24405868

2014