Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.040 Biomarker BEFREE A loss of estrogen signaling in the aromatase deficient mouse penis results in mild hypospadias. 31520742

2020
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.040 GeneticVariation BEFREE Notably, mutations in AR, SRD5A2, MAMLD1, WT1, and MAP3K1 have led to hypospadias and only one CYP19A1 mutation caused aromatase deficiency was reported to date. 30550360

2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.040 GeneticVariation BEFREE Interestingly, her older brother presented with mild hypospadias and bilateral cryptorchidism and was found to carry the same homozygous CYP19A1 mutation. 24705274

2014
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.040 GeneticVariation BEFREE In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1, CYP1A2, CYP1B1, CYP2B6, CYP3A4, CYP17A1 and CYP19A1) and risk of cryptorchidism (CO) and hypospadias (HS) in 334 Japanese (JPN) males (141 controls, 95 CO and 98 HS) and 187 Italian (ITA) males (129 controls and 58 CO). 22648180

2012