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:

rs121434246

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:

rs121434247

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:

rs121434247

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:

rs121434247

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:

rs121434249

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:

rs121434249

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:

rs121434249

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:

rs121434250

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:

rs121434250

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:

rs121434250

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

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:

rs121434252

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:

rs121434252

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:

rs121434252

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:

rs121434253

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:

rs121434253

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:

rs121434253

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:

rs368386747

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:

rs368386747

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:

rs368386747

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:

rs368386747

Entrez Id:	6716
Gene Symbol:	SRD5A2

SRD5A2

CUI:	C0268297
Disease:

Pseudovaginal Perineoscrotal Hypospadias

0.800

CausalMutation

CLINVAR

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

15770495

2005

dbSNP:

rs756853742

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:

rs756853742

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