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 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

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.600 Biomarker CTD_human Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607

1993

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0002453
Disease: Amenorrhea
Amenorrhea
0.300 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

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0032796
Disease: Postpartum Amenorrhea
Postpartum Amenorrhea
0.300 Biomarker CTD_human Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607

1993

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0242341
Disease: Sexual Infantilism
Sexual Infantilism
0.300 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

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
0.300 Biomarker CTD_human Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607

1993

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1563718
Disease: Genital Infantilism
Genital Infantilism
0.300 Biomarker CTD_human Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. 8265607

1993

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: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.600 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: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
0.400 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: C0020619
Disease: Hypogonadism
Hypogonadism
0.340 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: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
0.310 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: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
0.300 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
Hypogonadism, Isolated Hypogonadotropic
0.300 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 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker CTD_human While aromatase inhibitors are used to treat breast cancer, the treatment has been found to increase the level of aromatase in the breast tissue of some patients. 11850205

2001

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker CTD_human While aromatase inhibitors are used to treat breast cancer, the treatment has been found to increase the level of aromatase in the breast tissue of some patients. 11850205

2001

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.400 Biomarker CTD_human The major promoter usage for aromatase expression in breast tumors (i.e. cAMP-stimulated promoters I.3 and II) is different from that in normal breast tissue (i.e. glucocorticoid-stimulated promoter I.4). 11850205

2001

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
0.300 Biomarker CTD_human Modulation of aromatase expression in human breast tissue. 11850205

2001

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
0.300 Biomarker CTD_human Modulation of aromatase expression in human breast tissue. 11850205

2001

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
0.430 Biomarker CTD_human Recently, aromatase-deficient (ArKO, Ar-/-) mice lacking intrinsic estrogen was developed and the molecular mechanism involved in progression of massive hepatic steatosis in estrogen-deficiency was elucidated; impairment in hepatic fatty acid beta-oxidation of peroxisomes, microsomes and mitochondria. 11929713

2002

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.430 Biomarker CTD_human Recently, aromatase-deficient (ArKO, Ar-/-) mice lacking intrinsic estrogen was developed and the molecular mechanism involved in progression of massive hepatic steatosis in estrogen-deficiency was elucidated; impairment in hepatic fatty acid beta-oxidation of peroxisomes, microsomes and mitochondria. 11929713

2002

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0005974
Disease: Bone Resorption
Bone Resorption
0.300 Biomarker CTD_human Dietary bisphenol A prevents ovarian degeneration and bone loss in female mice lacking the aromatase gene (Cyp19 ). 11985600

2002

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases
0.300 Biomarker CTD_human Dietary bisphenol A prevents ovarian degeneration and bone loss in female mice lacking the aromatase gene (Cyp19 ). 11985600

2002

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
0.300 Biomarker CTD_human Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen. 12970278

2003