Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.520 GeneticVariation disease BEFREE Carrying the HSD3B1 1245C allele and overweight are associated with the presence of female pattern hair loss in women with polycystic ovary syndrome. 31056381 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 Biomarker disease BEFREE HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond. 31271415 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond. 31271415 2019
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.060 GeneticVariation disease BEFREE Herein, we review current knowledge of the mechanisms conferred by HSD3B1 genotype to alter androgen physiology and accelerate development of castration-resistant disease and its associations with clinical PCa outcomes. 31271415 2019
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.060 GeneticVariation disease BEFREE The variant allele 1245C of the HSD3B1 gene is present in approximately one-half of patients with CRPC; however, it is not associated with oncologic outcomes. 31331867 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE This study presents a comprehensive assessment of germline variants in androgen metabolism genes and highlights HSD3B1 polymorphisms as prognostic of OS after ADT and associated with an aggressive gene expression tumor profile in mCRPC. 31745256 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Recently, we demonstrated that the expression of 3β-hydroxysteroid dehydrogenase type 1 (HSD3B1) in breast cancer is associated with shorter recurrence-free survival, and genetic or pharmacologic inhibition of HSD3B1 reduced colony formation and xenograft growth.However, the mechanisms are unclear. 31004874 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE Recently, we demonstrated that the expression of 3β-hydroxysteroid dehydrogenase type 1 (HSD3B1) in breast cancer is associated with shorter recurrence-free survival, and genetic or pharmacologic inhibition of HSD3B1 reduced colony formation and xenograft growth.However, the mechanisms are unclear. 31004874 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation phenotype BEFREE Consistent with this mechanism, this adrenal-permissive HSD3B1(1245C) genotype is associated with inferior outcomes after androgen deprivation therapy for advanced PCa, and increased sensitivity to pharmacologic blockade of adrenal precursors in metastatic disease. 31271415 2019
Metastatic castration-resistant prostate cancer
0.020 GeneticVariation disease BEFREE This study presents a comprehensive assessment of germline variants in androgen metabolism genes and highlights HSD3B1 polymorphisms as prognostic of OS after ADT and associated with an aggressive gene expression tumor profile in mCRPC. 31745256 2019
CUI: C0002170
Disease: Alopecia
Alopecia
0.010 GeneticVariation disease BEFREE Carrying the HSD3B1 1245C allele and overweight are associated with the presence of female pattern hair loss in women with polycystic ovary syndrome. 31056381 2019
CUI: C0747845
Disease: early pregnancy
early pregnancy
0.010 AlteredExpression phenotype BEFREE The mRNA expression of cytochrome P450 family 11 subfamily A member 1 and hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 was analyzed using real-time PCR, while progesterone concentration in culture medium was assessed by radioimmunoassay.Dynamic changes of prostacyclin synthase and prostacyclin receptor expression were observed in porcine luteal tissue during the estrous cycle and early pregnancy. 30481284 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 Biomarker disease BEFREE AR Signaling in Prostate Cancer Regulates a Feed-Forward Mechanism of Androgen Synthesis by Way of HSD3B1 Upregulation. 29850791 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 GeneticVariation disease BEFREE In this study, the HSD3B1 (1245C) allele was associated with more rapid development of metastases in men treated with ADT for biochemical recurrence after primary radiation therapy for prostate cancer. 29049492 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 GeneticVariation disease BEFREE We hypothesized that the HSD3B1 (1245C) variant predicts response to treatment with abiraterone acetate (AA) and can help personalize treatment in men with advanced prostate cancer. 29674118 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 Biomarker disease BEFREE HSD3B1 status as a biomarker of androgen deprivation resistance and implications for prostate cancer. 29231195 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.400 GeneticVariation disease BEFREE HSD3B1(1245A>C) variant regulates dueling abiraterone metabolite effects in prostate cancer. 29939161 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE We hypothesized that the HSD3B1 (1245C) variant predicts response to treatment with abiraterone acetate (AA) and can help personalize treatment in men with advanced prostate cancer. 29674118 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE HSD3B1 status as a biomarker of androgen deprivation resistance and implications for prostate cancer. 29231195 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 Biomarker disease BEFREE AR Signaling in Prostate Cancer Regulates a Feed-Forward Mechanism of Androgen Synthesis by Way of HSD3B1 Upregulation. 29850791 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE In this study, the HSD3B1 (1245C) allele was associated with more rapid development of metastases in men treated with ADT for biochemical recurrence after primary radiation therapy for prostate cancer. 29049492 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.100 GeneticVariation disease BEFREE HSD3B1(1245A>C) variant regulates dueling abiraterone metabolite effects in prostate cancer. 29939161 2018
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.060 GeneticVariation disease BEFREE To determine whether the HSD3B1 (1245C) genotype is predictive of clinical response to extragonadal androgen ablation with nonsteroidal 17α-hydroxylase/17,20-lyase (CYP17A1) inhibition in men with metastatic CRPC. 29049452 2018
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.060 GeneticVariation disease BEFREE The HSD3B1 (1245C) variant also predicts longer duration of response to ketoconazole in men with castration-resistant prostate cancer (CRPC). 29674118 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE In addition, inheritance of the HSD3B1 variant is associated with extended responses to 17α-hydroxylase/17,20-lyase (CYP17A1) inhibition with a nonsteroidal agent, adding to evidence of increased tumour dependence on extragonadal androgens in patients who inherited the HSD3B1 variant. 29231195 2018