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Results 1 - 10 of 74 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Carcinoma, Ovarian Epithelial 11936817 Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). causal interaction
diagnostic usage
unassigned
3
4
0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Cataract 164335 [Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)] unassigned 0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Cataract 12705493 Clinical features of galactokinase deficiency: a review of the literature. causal interaction
diagnostic usage
ongoing research
therapeutic application
4
3
4
1
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Cataract 19418241 Negative screening tests in classical galactosaemia caused by S135L homozygosity. therapeutic application
unassigned
2
0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Cataract 28816213 Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. causal interaction
ongoing research
unassigned
1
3
0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Congenital Disorders of Glycosylation 16037488 Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. unassigned 0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16037488 Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. unassigned 0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Craniosynostoses 24002815 A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities. causal interaction
diagnostic usage
ongoing research
unassigned
3
3
2
0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Endometriosis 9714048 Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis. causal interaction
diagnostic usage
ongoing research
unassigned
3
2
3
0
Show all pathways known for 2.7.7.12Display the word mapDisplay the reaction diagram Show all sequences 2.7.7.12Fanconi Syndrome 6572355 Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. unassigned 0
Results 1 - 10 of 74 > >>