DisGeNET - a database of gene-disease associations

46,Xy Gonadal Dysgenesis, Complete, Sry-Related, C2748896

Gene: SRY ×

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:

rs104894956

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894957

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894959

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894964

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894966

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894968

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894969

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894971

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894972

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894973

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894974

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894976

SRY

0.800

GeneticVariation

UNIPROT

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

17063144

2007

dbSNP:

rs104894956

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894957

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894959

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894964

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894966

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894968

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894969

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894971

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894972

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894973

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894974

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894976

SRY

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894956

SRY

0.800

GeneticVariation

UNIPROT

True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.

12793612

2003