CBR1, carbonyl reductase 1, 873

N. diseases: 100; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.350 GeneticVariation disease BEFREE Genetic variation in 15-hydroxyprostaglandin dehydrogenase and colon cancer susceptibility. 23717544 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 GeneticVariation disease BEFREE The study was to investigate the correlation between rs8752 that located in the 3'untranslated region (UTR) of the 15-hydroxyprostaglandin dehydrogenase (<i>HPGD</i>) gene and prostate cancer (PCa) risk. 29187884 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.310 GeneticVariation group BEFREE Among individuals carrying the variant A allele (CBR1:GA/AA and/or CBR3:GA/AA), exposure to low- to moderate-dose anthracyclines (1 to 250 mg/m(2)) did not increase the risk of cardiomyopathy. 22124095 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE MSI was not detected in the UC-CRN group as compared to 5 (16.7%) in the S-CRN group. p53 mutations occurred in 1 (3.3%) of UC-LR, increasing to 6 (27.3%, P<0.05) and 3 (50%, P<0.05) in the UC-HR subgroups without and with neoplasia respectively, as against 10 (33.3%) in sporadic neoplasia group. 22398042 2012
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		0.060 GeneticVariation disease BEFREE A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. 24533558 2015
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		0.060 GeneticVariation disease BEFREE Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. 18500342 2008
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		0.060 GeneticVariation disease BEFREE Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). 20406614 2010
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		0.060 GeneticVariation disease BEFREE Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families affected with primary hypertrophic osteoarthropathy and one family with autosomal-recessive isolated nail clubbing. 19568269 2009
CUI: C0029411
Disease: Osteoarthropathy, Primary Hypertrophic
Osteoarthropathy, Primary Hypertrophic 		0.060 GeneticVariation disease BEFREE Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. 19306095 2009
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.050 GeneticVariation disease BEFREE Genetic variation in 15-hydroxyprostaglandin dehydrogenase and colon cancer susceptibility. 23717544 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 GeneticVariation disease BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 GeneticVariation disease BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.040 GeneticVariation disease BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 GeneticVariation disease BEFREE Our results revealed the high levels of complexities of gene actions and interactions associated with the Setd4/Cbr1-Fam3b/Mx2 region as well as their relationship with developmental cognitive deficits in DS. 26374847 2015
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 GeneticVariation disease BEFREE Our results revealed the high levels of complexities of gene actions and interactions associated with the Setd4/Cbr1-Fam3b/Mx2 region as well as their relationship with developmental cognitive deficits in DS. 26374847 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 GeneticVariation disease BEFREE MSI was not detected in the UC-CRN group as compared to 5 (16.7%) in the S-CRN group. p53 mutations occurred in 1 (3.3%) of UC-LR, increasing to 6 (27.3%, P<0.05) and 3 (50%, P<0.05) in the UC-HR subgroups without and with neoplasia respectively, as against 10 (33.3%) in sporadic neoplasia group. 22398042 2012
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.020 GeneticVariation disease BEFREE To investigate the relationship between IL1B and IL6 gene polymorphisms and histological features of NAFLD in the NASH CRN cohort. 27730688 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 GeneticVariation group BEFREE Our results revealed the high levels of complexities of gene actions and interactions associated with the Setd4/Cbr1-Fam3b/Mx2 region as well as their relationship with developmental cognitive deficits in DS. 26374847 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE However, none of the SNPs showed association to T1D in the complete material, whereas some evidence for association to T1D of variants of the TTC3, OLIG2, KCNE1, and CBR1 genes was observed in conditioned analyses. 15635070 2005
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 GeneticVariation group BEFREE In the stool study, we evaluated candidate methylated genes (vimentin, EYA4, BMP3, NDRG4) in a prospective blinded study on buffered stools from 19 cases with known IBD-CRN and 35 age- and sex-matched IBD controls without CRN. 23347191 2013
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 GeneticVariation disease BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 GeneticVariation disease BEFREE Another SNP located in CBR1 (rs3787728) also showed a significant decreased risk in SCC (OR: 0.4695% CI: 0.26-0.80, P = 0.024) and small cell carcinoma (only in current smokers) (OR: 0.06895% CI: 0.01-0.42, P = 0.028). 24976539 2015
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.010 GeneticVariation disease BEFREE Another SNP located in CBR1 (rs3787728) also showed a significant decreased risk in SCC (OR: 0.4695% CI: 0.26-0.80, P = 0.024) and small cell carcinoma (only in current smokers) (OR: 0.06895% CI: 0.01-0.42, P = 0.028). 24976539 2015
CUI: C0263538
Disease: Clubbing of nail
Clubbing of nail 		0.010 GeneticVariation phenotype BEFREE Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families affected with primary hypertrophic osteoarthropathy and one family with autosomal-recessive isolated nail clubbing. 19568269 2009