Annotation Detail

Information
Associated Genes
GALT
Associated Variants
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
GALT p.Asn314Asp (p.N314D) ( ENST00000378842.8, ENST00000450095.6 )
Associated Disease
endometriosis
Source Database
DisGeNET
Description
Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population.
Pubmed
10508229
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00900118904036822
Year of publication
1999
Drugs