|
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 |
|
Micropenis
|
|
0.710 |
GeneticVariation
|
BEFREE |
The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.
|
12843198 |
2003 |
|
Prostate carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
To provide etiological clues, we evaluated the relationships of four polymorphic markers in the SRD5A2 gene, specifically, A49T (a substitution of threonine for alanine at codon 49), V89L (a substitution of leucine for valine at codon 89), R227Q (a substitution of glutamine for arginine at codon 227), and a (TA)n dinucleotide repeat, with prostate cancer risk in a population-based case-control study in China, a population with the lowest reported prostate cancer incidence rate in the world.
|
11588134 |
2001 |
|
Malignant neoplasm of prostate
|
|
0.020 |
GeneticVariation
|
BEFREE |
To provide etiological clues, we evaluated the relationships of four polymorphic markers in the SRD5A2 gene, specifically, A49T (a substitution of threonine for alanine at codon 49), V89L (a substitution of leucine for valine at codon 89), R227Q (a substitution of glutamine for arginine at codon 227), and a (TA)n dinucleotide repeat, with prostate cancer risk in a population-based case-control study in China, a population with the lowest reported prostate cancer incidence rate in the world.
|
11588134 |
2001 |
|
Malignant neoplasm of prostate
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Prostate carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Hypospadias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
5-Alpha Reductase Deficiency
|
|
0.010 |
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 |
|
Penis agenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.
|
12843198 |
2003 |
|
Benign Prostatic Hyperplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The SRD5A2 polymorphisms A49T, V89L and R227Q, the androgen receptor CAG and GGN repeats and sex hormone status was investigated in men with prostate cancer (CaP) (n=89), benign prostate hyperplasia (n=45) and healthy military conscripts (n=223).
|
16039774 |
2005 |
|
Penile hypospadias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17).
|
28663096 |
2017 |
|
Sex Differentiation Disorders
|
|
0.010 |
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 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
|
19342739 |
2009 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
|
25605705 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
|
22453073 |
2012 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.
|
14594182 |
2004 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
|
20736251 |
2011 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.
|
10898110 |
2000 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
|
25899528 |
2015 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
CausalMutation
|
CLINVAR |
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
|
12843198 |
2003 |
|
Pseudovaginal Perineoscrotal Hypospadias
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
|
15064320 |
2004 |
|
Micropenis
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |