Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041182
Disease: Trophoblastic Neoplasms
Trophoblastic Neoplasms
0.010 Biomarker group LHGDN HSD3B1 immunoreactivity was detected in intermediate trophoblast and syncytiotrophoblast in 21 early placentas, 18 complete hydatidiform moles, 67 trophoblastic tumors, including placental site trophoblastic tumors, epithelioid trophoblastic tumors, and choriocarcinomas, and 28 tumorlike lesions including placental site nodules and exaggerated placental site. 18223326 2008
CUI: C0041182
Disease: Trophoblastic Neoplasms
Trophoblastic Neoplasms
0.010 Biomarker group BEFREE HSD3B1 as a novel trophoblast-associated marker that assists in the differential diagnosis of trophoblastic tumors and tumorlike lesions. 18223326 2008
CUI: C1333482
Disease: Exaggerated placental site
Exaggerated placental site
0.010 Biomarker disease BEFREE HSD3B1 immunoreactivity was detected in intermediate trophoblast and syncytiotrophoblast in 21 early placentas, 18 complete hydatidiform moles, 67 trophoblastic tumors, including placental site trophoblastic tumors, epithelioid trophoblastic tumors, and choriocarcinomas, and 28 tumorlike lesions including placental site nodules and exaggerated placental site. 18223326 2008
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.520 Biomarker disease RGD Disruption in the expression and immunolocalisation of steroid receptors and steroidogenic enzymes in letrozole-induced polycystic ovaries in rat. 19698287 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 GeneticVariation disease BEFREE To estimate the prostate cancer risk conferred by individual single nucleotide polymorphisms (SNPs), SNP-SNP interactions, and/or cumulative SNP effects, we evaluated the association between prostate cancer risk and the genetic variants of 12 key genes within the steroid hormone pathway (CYP17, HSD17B3, ESR1, SRD5A2, HSD3B1, HSD3B2, CYP19, CYP1A1, CYP1B1, CYP3A4, CYP27B1, and CYP24A1). 19505920 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.210 Biomarker group RGD Delayed puberty in spontaneously hypertensive rats involves a primary ovarian failure independent of the hypothalamic KiSS-1/GPR54/GnRH system. 19228890 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE To estimate the prostate cancer risk conferred by individual single nucleotide polymorphisms (SNPs), SNP-SNP interactions, and/or cumulative SNP effects, we evaluated the association between prostate cancer risk and the genetic variants of 12 key genes within the steroid hormone pathway (CYP17, HSD17B3, ESR1, SRD5A2, HSD3B1, HSD3B2, CYP19, CYP1A1, CYP1B1, CYP3A4, CYP27B1, and CYP24A1). 19505920 2009
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE The genetic polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes were found to be significantly different (p<0.05) between the uremic and non-uremic diabetes group. 19148546 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE The genetic polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes were found to be significantly different (p<0.05) between the uremic and non-uremic diabetes group. 19148546 2009
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE In 8-Br-cAMP-treated hESF from eutopic endometrium of women with endometriosis, the balance in estradiol (E2) and P4 biosynthetic and metabolizing enzymes is disturbed (decreased HSD3B1 and HSD17B2, and increased HSD17B1 and aromatase), with the equilibrium being shifted towards an E2-enriched milieu. 18815356 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 AlteredExpression disease BEFREE We hypothesized that activation of AR in prostate cancer by DHEA and A5diol requires their conversion via 3betaHSD to androstenedione and testosterone, respectively. 20534728 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 AlteredExpression disease BEFREE We hypothesized that activation of AR in prostate cancer by DHEA and A5diol requires their conversion via 3betaHSD to androstenedione and testosterone, respectively. 20534728 2010
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.060 Biomarker disease BEFREE Furthermore, this work suggests that 3betaHSD may be exploited as a pharmacologic target in the treatment of CRPC. 20534728 2010
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation disease BEFREE rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for EH, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level. 20660004 2010
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.010 GeneticVariation disease BEFREE We performed a haplotype- and diplotype-based case-control study to investigate the association between the HSD3B gene variations and essential hypertension (EH), aldosterone level, and left ventricular hypertrophy (LVH). 20660004 2010
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
0.010 GeneticVariation disease BEFREE We also investigated associations between SNPs in genes (HSD3B1, SRD5A1/2, and AKR1C2) involved in the conversion of testosterone to DHT, and in DHT metabolism and PCA risk. 20056642 2010
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.010 GeneticVariation disease BEFREE An MDR analysis corroborated the synergistic genotype association and demonstrated that synergistic interaction between rs6203 (HSD3B1), rs10046 (CYP19A1), and sex might confer susceptibility to high myopia (p=0.019). 21921981 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.520 Biomarker disease CTD_human The expression of sex steroid synthesis and inactivation enzymes in subcutaneous adipose tissue of PCOS patients. 22381227 2012
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
0.300 Biomarker disease CTD_human The expression of sex steroid synthesis and inactivation enzymes in subcutaneous adipose tissue of PCOS patients. 22381227 2012
Malignant neoplasm of urinary bladder
0.010 Biomarker disease BEFREE HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. 23284679 2012
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker disease BEFREE HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. 23284679 2012
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 Biomarker disease BEFREE HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. 23284679 2012
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.010 GeneticVariation phenotype BEFREE The aim of this haplotype-based case-control study was to estimate whether polymorphisms of the maternal estrogen synthesis genes (CYP19A1, HSD3B1 and HSD3B2) are associated with preeclampsia (PE) and gestational hypertension (GH). 22638611 2012
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 GeneticVariation disease BEFREE This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. 24157973 2013
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
0.010 Biomarker disease BEFREE Further analysis suggested that increased expression of HSD3B1 and reduced expression of androgen receptor (AR) promoted adaptation to androgen-abundant conditions, as indicated by the increased conversion of DHT into 3β-diol by HSD3B1 and AR signal reduction. 23780684 2013