DisGeNET - a database of gene-disease associations

SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55

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:

rs9332964

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.810

GeneticVariation

UNIPROT

5 alpha-reductase-2 gene mutations in the Dominican Republic.

8626825

1996

dbSNP:

rs9332964

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.810

GeneticVariation

UNIPROT

A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.

7554313

1995

dbSNP:

rs9332964

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.810

GeneticVariation

UNIPROT

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

1522235

1992

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

28544750

2017

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

27070133

2016

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.

26446026

2016

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

27899157

2016

dbSNP:

rs368386747

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

27070133

2016

dbSNP:

rs121434249

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.

23633205

2013

dbSNP:

rs368386747

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

22272144

2011

dbSNP:

rs368386747

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

21631525

2011

dbSNP:

rs767564684

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

21631525

2011

dbSNP:

rs767564684

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.

20019388

2011

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

20190539

2010

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.

20493473

2010

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.

19492581

2009

dbSNP:

rs767564684

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

17609295

2008

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

16181229

2005

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

16098368

2005

dbSNP:

rs121434244

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

15770495

2005

dbSNP:

rs121434245

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

16181229

2005

dbSNP:

rs121434245

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

15770495

2005

dbSNP:

rs121434245

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

16098368

2005

dbSNP:

rs121434246

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

16181229

2005

dbSNP:

rs121434246

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

16098368

2005