Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker CTD_human Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. 10566648

1999
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker CTD_human Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. 9177373

1997
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		0.800 Biomarker CTD_human We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. 8265607

1993