rs2070074, GALT

N. diseases: 12
Disease: Endometriosis ×
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 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
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 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 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 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