SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT Molecular genetics of steroid 5 alpha-reductase 2 deficiency. 1522235 1992
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. 9745434 1998
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. 16181229 2005
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. 10898110 2000
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT 5 alpha-reductase-2 gene mutations in the Dominican Republic. 8626825 1996
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.810 GeneticVariation UNIPROT Uniparental disomy in steroid 5alpha-reductase 2 deficiency. 10999800 2000
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs9332964
rs9332964
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
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
dbSNP: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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: rs121434244
rs121434244
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