| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. | 16181229 | 2005 | |||||
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 | |||||
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 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | 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 | |||||
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 | |||||
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 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. | 10898110 | 2000 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. | 10718838 | 2000 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Uniparental disomy in steroid 5alpha-reductase 2 deficiency. | 10999800 | 2000 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. | 9843052 | 1998 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. | 9745434 | 1998 | |||||
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 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. | 8768837 | 1996 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | 5 alpha-reductase-2 gene mutations in the Dominican Republic. | 8626825 | 1996 | |||||
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 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of steroid 5 alpha-reductase 2 deficiency. | 1522235 | 1992 | |||||
Pseudovaginal Perineoscrotal Hypospadias
|
0.800 | CausalMutation | CLINVAR |