BCO1, beta-carotene oxygenase 1, 53630

N. diseases: 29; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676023
Disease: Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 		0.600 GermlineCausalMutation disease ORPHANET Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 17951468 2007
CUI: C2676023
Disease: Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease UNIPROT Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 17951468 2007
CUI: C2676023
Disease: Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 		0.600 Biomarker disease CTD_human
CUI: C2676024
Disease: CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.300 GermlineCausalMutation phenotype ORPHANET Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. 17951468 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C3815172
Disease: Interleukin 1 Beta Measurement
Interleukin 1 Beta Measurement 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies protein quantitative trait loci (pQTLs). 18464913 2008
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.100 Biomarker group HPO
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Thus, our results demonstrate new chemotherapeutic roles for BCO1 in malignant NB that mediate suppression of cancer stemness and metastasis. 31048207 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 Biomarker disease BEFREE BCX feeding mitigates HRCD-induced NAFLD in both WT and DKO mice through different mechanisms in the liver-MAT axis, depending on the presence or absence of BCO1/BCO2. 31212314 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Thus, our results demonstrate new chemotherapeutic roles for BCO1 in malignant NB that mediate suppression of cancer stemness and metastasis. 31048207 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 Biomarker disease BEFREE In the present study, we investigated the effect of ablation of both BCO1/BCO2 in the development of non-alcoholic fatty liver disease (NAFLD) and its underlying molecular mechanism(s). 30006135 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 Biomarker disease BEFREE We investigate the effects of tomato powder (TP containing substantial lycopene (2.3 mg/g)) on NAFLD development and gut microbiome in the absence of both BCO1 and BCO2 in mice. 29266812 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE For example, administration of 3-keto-HPR instead of fenretinide may be preferential if inhibition of SCD1 or DES1 activity is the goal (cancer), while MPR may be better for BCO1 modulation (carotenoid metabolism). 28448568 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE For example, administration of 3-keto-HPR instead of fenretinide may be preferential if inhibition of SCD1 or DES1 activity is the goal (cancer), while MPR may be better for BCO1 modulation (carotenoid metabolism). 28448568 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE These novel associations suggest a critical role for BCMO1 in cancer and provide a mechanism for the proposed antitumor effects of β-carotene. 23803888 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE These novel associations suggest a critical role for BCMO1 in cancer and provide a mechanism for the proposed antitumor effects of β-carotene. 23803888 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 GeneticVariation disease BEFREE Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer. 30801647 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 GeneticVariation disease BEFREE Single Nucleotide Polymorphisms in β-Carotene Oxygenase 1 are Associated with Plasma Lycopene Responses to a Tomato-Soy Juice Intervention in Men with Prostate Cancer. 30801647 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 GeneticVariation disease BEFREE We used unconditional logistic regression to test four SNPs in BCMO1 for associations with breast cancer risk in 9,226 cases and 10,420 controls from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). 23515144 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 GeneticVariation disease BEFREE We used unconditional logistic regression to test four SNPs in BCMO1 for associations with breast cancer risk in 9,226 cases and 10,420 controls from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). 23515144 2013
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE The association between BCO1 polymorphisms and risk of coronary atherosclerosis were analyzed with logistic regression, and the effect of gene-behaviors interaction on the risk of coronary atherosclerosis were determined with crossover analysis. 30896431 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE In vivo, BCO1 reduced the metastatic incidence and volumes of metastatic tumors and downregulated the expression of CSCs markers, MMPs, and HIF-1α in tumor tissues of a mouse xenograft model. 31048207 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE Moreover, BCO1 inhibited the metastatic potential of NB cells and suppressed the enzymatic activity and expression of MMPs, as well as expression of HIF-1α and its downstream targets. 31048207 2019
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 GeneticVariation group BEFREE This study investigated the association between BCO1 polymorphisms and the risk of coronary atherosclerosis in dyslipidemia participants, and analyzed the influence of personal behaviors on coronary atherosclerosis. 30896431 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE Moreover, BCO1 inhibited the metastatic potential of NB cells and suppressed the enzymatic activity and expression of MMPs, as well as expression of HIF-1α and its downstream targets. 31048207 2019