rs2070074, GALT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.050 GeneticVariation BEFREE These findings suggest that Q188R and N314D mutations are not likely to be associated with an increased risk of endometriosis among Chinese Women. 16416427 2006
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.050 GeneticVariation BEFREE To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. 11704127 2001
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.050 GeneticVariation BEFREE We conclude that the galactose-1-phosphate uridyl transferase N314D polymorphism is unlikely to be associated with endometriosis in the UK population. 10508229 1999
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.050 GeneticVariation BEFREE There were no significant differences observed in the N314D mutation frequency between women with endometriosis (18%) and controls (17%). 9714048 1998
Endometriosis
CUI: C0014175
Disease: Endometriosis
0.050 GeneticVariation BEFREE Compared with endometriosis cases without the N314D allele, those cases with the allele tended to have more advanced disease and a family history of endometriosis. 9238674 1996