DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Pseudovaginal Perineoscrotal Hypospadias ×

Variant: rs9332961 ×

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:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.

25899528

2015

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.

24665940

2014

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.

23329752

2012

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

21147889

2011

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.

21540559

2011

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Diagnosis of 5alpha-reductase 2 deficiency: a local experience.

19342739

2009

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Mutation analysis of five candidate genes in Chinese patients with hypospadias.

15266301

2004

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency.

9135696

1997

dbSNP:

rs9332961

SRD5A2

CUI:	C0268297
Disease:	Pseudovaginal Perineoscrotal Hypospadias

Pseudovaginal Perineoscrotal Hypospadias

0.700

CausalMutation

CLINVAR

Tension leads to increased neutrophil accumulation and decreased laparotomy wound strength.

2154055

1990