Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE A study of serum estradiol, progesterone, 17alpha-hydroxy-progesterone, testosterone, dihydrotestosterone, dehydroepiandrosterone (DHA), delta4-androstenedione (delta4-A), FSH, and LH was carried out in one of three sisters having polycystic ovarian disease for a period of 18 days before wedge resection, at the time of surgery, and for 24 days following wedge resection. 144874

1978

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 Biomarker BEFREE Since we have found the presence of high plasma BE concentrations in hereditary angioedema (HANE) during attacks as well as during symptom-free periods, we studied, by means of pelvic ultrasound scanning employed to determine the prevalence of PCO and of MFO, 13 women of reproductive age affected with HANE who were not on oral contraceptives. 1333923

1992

Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker BEFREE The frequency of the human leukocyte antigen DQA1*0501 was 0.50 and 0.26 in subjects with polycystic ovary syndrome and control subjects, respectively (corrected for multiple comparisons, p = 0.067). 1471701

1992

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation BEFREE In addition, a new mutation was found in exon 20 of the insulin receptor gene in a patient with moderate insulin resistance associated with morbid obesity, acanthosis nigricans, and polycystic ovary syndrome. 1563582

1992

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation BEFREE Point mutations in the insulin receptor gene that cause insulin resistance appear to be associated with the PCOD phenotype. 2035966

1991

Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.080 Biomarker BEFREE This article surveys the congenital and late-onset forms of the common steroidogenic enzyme defects of the adrenal cortex--steroid 21-hydroxylase, steroid 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase deficiencies--in connection with the occurrence of polycystic ovarian disease. 3058471

1988

Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker BEFREE This article surveys the congenital and late-onset forms of the common steroidogenic enzyme defects of the adrenal cortex--steroid 21-hydroxylase, steroid 11 beta-hydroxylase, and 3 beta-hydroxysteroid dehydrogenase deficiencies--in connection with the occurrence of polycystic ovarian disease. 3058471

1988

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker BEFREE All females over the age of 5 years with GSD I, III, VI and IX had morphologically polycystic ovaries. 7494404

1995

Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE There was no relationship between the presence of the variant LH and the clinical and hormonal parameter in the PCOS subjects; however, in the controls the presence of the variant LH was associated with a higher serum total testosterone (P = 0.046), oestradiol (P = 0.03) and SHBG (P = 0.002). 7586598

1995

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 AlteredExpression BEFREE Our findings suggest that increased insulin receptor serine phosphorylation decreases its protein tyrosine kinase activity and is one mechanism for the post-binding defect in insulin action characteristic of PCOS. 7635975

1995

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation BEFREE We conclude that mutations involving the tyrosine kinase domain of the insulin receptor gene are a rare cause of insulin resistance in the PCOS. 7836517

1994

Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. 7849715

1994

Entrez Id: 5120
Gene Symbol: PCOS1
PCOS1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.040 Biomarker BEFREE Fourteen Caucasian families with 81 affected individuals have been assessed in which polycystic ovaries/male pattern baldness (PCO/MPB) segregates as an autosomal dominant phenotype (1). 7849715

1994

Entrez Id: 10468
Gene Symbol: FST
FST
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 AlteredExpression BEFREE In both types of follicles, follistatin and alpha-, beta a-, and beta b-subunit cytoplasmic staining were observed in granulosa cells, as were their corresponding messages, with the exception of the undetectable follistatin mRNA signal in the PCOS follicles. 7962340

1994

Entrez Id: 92
Gene Symbol: ACVR2A
ACVR2A
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 AlteredExpression BEFREE ActRII and -IIB mRNAs were not detected in any cell layer in either normal or PCOS follicles. 7962340

1994

Entrez Id: 3623
Gene Symbol: INHA
INHA
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.030 AlteredExpression BEFREE Expression of inhibin alpha, beta A and beta B messenger ribonucleic acids in the normal human ovary and in polycystic ovarian syndrome. 7964311

1994

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker BEFREE We conclude that the insulin resistance in these PCOS women was caused by a defect extrinsic to the insulin receptor. 7990713

1994

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.600 GeneticVariation BEFREE A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). 8200927

1994

Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.600 GeneticVariation BEFREE 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: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker BEFREE Impaired insulin receptor binding and polycystic ovaries are described as part of this syndrome. 8456839

1993

Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation BEFREE This study investigated whether mutations in the insulin receptor gene could explain the insulin resistance in subjects with PCOS. 8626868

1996

Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 Biomarker BEFREE Several differences in FF IGF-I, EGF, inhibin, and TGF-beta 2 concentrations were observed between PCOS and controls. 8654631

1996

Entrez Id: 3479
Gene Symbol: IGF1
IGF1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 Biomarker BEFREE Both IGF-II and IGF-I were reduced in PCOS, confirming a possible role of an IGF imbalance in the development of this disease. 8654631

1996

Entrez Id: 3481
Gene Symbol: IGF2
IGF2
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.080 Biomarker BEFREE Intrafollicular IGF-II was lower in PCOS than in controls. 8654631

1996

Entrez Id: 3479
Gene Symbol: IGF1
IGF1
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.100 AlteredExpression BEFREE Expression of insulin-like growth factor (IGF), IGF-binding protein, and IGF receptor messenger ribonucleic acids in normal and polycystic ovaries. 8772565

1996