rs2070074, GALT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.050 GeneticVariation BEFREE The N314D allele of the GALT gene has been associated with low GALT activity and with an increased risk of ovarian cancer. 12869412 2003
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.050 GeneticVariation BEFREE We found no effect of N314D GALT genotype on the risk of borderline ovarian cancer (odds ratio (OR)=0.91; 95% confidence interval (CI)=0.54-1.6) or invasive ovarian cancer (OR=0.78; 95% CI= 0.53-1.2). 11936817 2002
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.050 GeneticVariation BEFREE Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer. 12370157 2002
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.050 GeneticVariation BEFREE The difference was most evident for endometrioid and clear cell types of ovarian cancer, in which 3.9% of cases were found to be homozygous for N314D compared with 0.4% of controls, yielding an odds ratio and 95% confidence interval of 14.17 (2.62-76.60). 10667469 2000
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.050 GeneticVariation BEFREE Our results support previous reports of an association of impaired galactose metabolism with serous and undifferentiated ovarian cancers but contradict previous findings of increased N314D mutation frequencies among women with endometriosis and endometrioid and clear cell sub-types ovarian cancer. 9714048 1998