DisGeNET - a database of gene-disease associations

SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27

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:

rs104894973

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

CausalMutation

CLINVAR

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

28787711

2017

dbSNP:

rs104894973

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

CausalMutation

CLINVAR

Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.

20528776

2010

dbSNP:

rs104894956

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

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

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894957

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894959

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894964

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894966

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894968

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894969

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894971

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894972

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894973

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006

dbSNP:

rs104894974

Entrez Id:	6736
Gene Symbol:	SRY

SRY

CUI:	C2748896
Disease:

46,Xy Gonadal Dysgenesis, Complete, Sry-Related

0.800

GeneticVariation

UNIPROT

Consensus statement on management of intersex disorders.

18947601

2006