rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
BEFREE
We reported novel candidate genes (BMPR1B, GNAS, GHR) and regions of copy number variants outside the expected DSD genotype-phenotype correlation, and determined a founder mutation (SRD5A2 p.R227Q ) in patients with 5α-reductase deficiency .
31277073
2019
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
GeneticVariation
CLINVAR
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
25899528
2015
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
25605705
2015
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
25899528
2015
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
22453073
2012
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
20736251
2011
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
19342739
2009
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
15770495
2005
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
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
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
16181229
2005
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
15064320
2004
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
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
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.
14594182
2004
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
GeneticVariation
CLINVAR
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
15064320
2004
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
12843198
2003
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
12843198
2003
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
10718838
2000
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
GeneticVariation
CLINVAR
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
10898110
2000
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
T
0.810
CausalMutation
CLINVAR
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
10898110
2000
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
10898110
2000
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
10999800
2000
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
9745434
1998
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
9843052
1998
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).
9208814
1997
rs9332964
×
Entrez Id:
6716
Gene Symbol:
SRD5A2
SRD5A2
Pseudovaginal Perineoscrotal Hypospadias
0.810
GeneticVariation
UNIPROT
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.
8768837
1996