EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.7.7.12 | Carcinoma, 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 |
2.7.7.12 | Cataract |
164335 |
[Activity of enzymes of galactose metabolism in so-called congenital cataract (author's transl)] |
unassigned |
0 |
2.7.7.12 | Cataract |
12705493 |
Clinical features of galactokinase deficiency: a review of the literature. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 3 4 1 |
2.7.7.12 | Cataract |
19418241 |
Negative screening tests in classical galactosaemia caused by S135L homozygosity. |
therapeutic application unassigned |
2 0 |
2.7.7.12 | Cataract |
28816213 |
Association of presenile cataract with galactose-1-phosphate uridyl transferase gene mutations. |
causal interaction ongoing research unassigned |
1 3 0 |
2.7.7.12 | Congenital Disorders of Glycosylation |
16037488 |
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. |
unassigned |
0 |
2.7.7.12 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
16037488 |
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. |
unassigned |
0 |
2.7.7.12 | Craniosynostoses |
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 |
2.7.7.12 | Endometriosis |
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 |
2.7.7.12 | Fanconi Syndrome |
6572355 |
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. |
unassigned |
0 |