Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE The hypospadias phenotype was almost identical to that reported for the estrogen receptor α (ERα) knockout confirming that ERα is the predominant receptor for mediating estrogen action during development of the mouse penis. 31520742 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE Similar to single nucleotide polymorphism analysis, different ESR1 haplotypes were associated with risk of hypospadias in nonHispanic white and Hispanic subjects. 25463985 2015
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE For rs6932902 in ESR1 only maternally derived alleles appeared to increase hypospadias risk in offspring. 23088992 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 Biomarker disease BEFREE Neonatal DHT treatment also induced hypospadias in both Esr1(-/-) and Esr1(+/+) mice. 19864317 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE We did not replicate the associations of the SNPs in SRD5A2 and ESR1 with hypospadias. 20215396 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE These findings suggest that the G allele containing variants of ESR1 XbaI and the G allele containing variants of ESR2 2681-4A>G may decrease the risk of hypospadias, whereas the ESR1 C-A haplotype may increase its risk. 18375409 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease LHGDN Genetic polymorphisms of ESR1 and ESR2 that may influence estrogen activity and the risk of hypospadias. 18375409 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 AlteredExpression disease LHGDN Expression of estrogen and androgen receptors in children with hypospadias: preliminary report. 17453687 2007
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.080 GeneticVariation disease BEFREE We screened 60 boys with hypospadias for mutations in the coding regions of ESR1 and ESR2 genes, by denaturing high-performance liquid chromatography and automated sequence analysis. 16553027 2006