DisGeNET - a database of gene-disease associations

SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55

Disease: Pseudovaginal Perineoscrotal Hypospadias ×

Variant: rs121434251 ×

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:

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:

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:

rs121434251

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:

rs121434251

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:

rs121434251

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:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.

15528927

2004

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

15064320

2004

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

12843198

2003

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.

10898110

2000

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Uniparental disomy in steroid 5alpha-reductase 2 deficiency.

10999800

2000

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.

10718838

2000

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

9843052

1998

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

9745434

1998

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

9745434

1998

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).

9208814

1997

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.

8768837

1996

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.

8706317

1996

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

GeneticVariation

UNIPROT

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

8626825

1996

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.

8723114

1996

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

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:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.

7608269

1995

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

8110760

1994

dbSNP:

rs121434251

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

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

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

1522235

1992