EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
10731680 |
Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
17050284 |
Etiology of vision loss in ganglioside GM3 synthase deficiency. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
22990144 |
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
23436467 |
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
25652401 |
Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
26649472 |
Early growth and development impairment in patients with ganglioside GM3 synthase deficiency. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
27232954 |
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. |
causal interaction diagnostic usage unassigned |
3 3 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
27251946 |
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS. |
causal interaction diagnostic usage unassigned |
2 4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
30185102 |
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. |
causal interaction unassigned |
4 0 |
2.4.1.92 | (n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency |
30209782 |
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency. |
causal interaction ongoing research unassigned |
4 2 0 |