Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503 2019
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
0.200 AlteredExpression disease BEFREE Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome. 31017737 2019
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
0.010 GeneticVariation disease BEFREE Production of recombinant human acid β-glucosidase with high mannose-type N-glycans in rice gnt1 mutant for potential treatment of Gaucher disease. 30822514 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE UGT1 and UGT2 enzymes have important roles in pharmacology and toxicology including contributing to interindividual differences in drug disposition as well as to cancer risk. 30724669 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE UGT1 and UGT2 enzymes have important roles in pharmacology and toxicology including contributing to interindividual differences in drug disposition as well as to cancer risk. 30724669 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.110 GeneticVariation disease GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population. 30621171 2019
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASCAT Very low-depth whole-genome sequencing in complex trait association studies. 30576415 2019
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. 30504769 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 AlteredExpression group BEFREE Finally, we also found that the expression of GnT-I was important for cell survival, resistance to cancer drugs, and increased colony formation. 30307765 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 AlteredExpression group BEFREE Finally, we also found that the expression of GnT-I was important for cell survival, resistance to cancer drugs, and increased colony formation. 30307765 2019
Low density lipoprotein cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.010 AlteredExpression disease BEFREE The results showed expression levels of UDP-glucuronosyltransferase 1-1 (UGT1A1), organic anion-transporting polypeptide 1A4 (OATP1A4), multidrug resistance-associated protein 2 (MRP2), multidrug resistance protein 1, sodium-dependent taurocholate cotransporter, and organic anion-transporting polypeptide 1A2 were significantly inhibited in cholestasis rats, which would account for reducing the drug absorption and the metabolic process of YCHD in cholestatic rats. 29867509 2018
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation disease BEFREE Currently, pharmacogenomic testing of all childhood cancer patients with an indication for doxorubicin or daunorubicin therapy for RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 variants is recommended. 29713898 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation disease BEFREE Meta-analysis of SNPs rs2070959 and rs1105879 in UGT1A6 gene showed interaction between aspirin use and CRC risk (Pinteraction = 0.01 and 0.02, respectively); stratification by aspirin use showed an association for decreased CRC risk for aspirin users having a wild-type genotype (rs2070959 OR = 0.77, 95% CI = 0.68-0.86; rs1105879 OR = 0.77 95% CI = 0.69-0.86) compared to variant allele cariers. 29425227 2018
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation disease BEFREE Individuals with genotype AA of UGT1A6 rs2070959 in the Yi group had a higher risk for HBV infection than in the Yao and Han groups. 29239247 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
0.010 Biomarker disease BEFREE Ugt1a6 was elevated by 1.8-fold in the cortex in both SE and non-response (non-epileptic seizure response) rats, implying that Ugt1a6 induction may be independent from SE. 29131354 2018
CUI: C0036572
Disease: Seizures
Seizures
0.020 GeneticVariation phenotype BEFREE The odds ratio indicated a higher risk of early post-traumatic seizure occurrence in male patients (OR 1.96, 95% CI 1.01-3.81, p = 0.043), age over 65 (OR 2.13, 95% CI 1.01-4.48), and with UGT1A6_19T > G/541A > G/552A > C double heterozygosities (OR 2.38, 95% CI 1.11-5.10, p = 0.02), though the power of the difference was between 0.54 to 0.61. 28841884 2017
CUI: C2921125
Disease: Post traumatic seizures
Post traumatic seizures
0.010 GeneticVariation disease BEFREE UGT1A6_19T > G/541A > G/552A > C double heterozygositie is associated with occurrence of early post-traumatic seizures in addition to patients' age and gender. 28841884 2017
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.060 GeneticVariation disease BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.060 GeneticVariation disease BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838 2017