EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.4.1.143 | Anemia, Dyserythropoietic, Congenital |
2136385 |
HEMPAS disease: genetic defect of glycosylation. |
causal interaction therapeutic application unassigned |
1 1 0 |
2.4.1.143 | Anemia, Dyserythropoietic, Congenital |
2217175 |
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. |
causal interaction diagnostic usage ongoing research therapeutic application |
1 1 1 1 |
2.4.1.143 | Anemia, Dyserythropoietic, Congenital |
2495036 |
Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase. |
causal interaction unassigned |
1 0 |
2.4.1.143 | Anemia |
2953718 |
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. |
causal interaction therapeutic application unassigned |
4 2 0 |
2.4.1.143 | Anemia, Dyserythropoietic, Congenital |
2953718 |
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. |
causal interaction therapeutic application unassigned |
4 2 0 |
2.4.1.143 | alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency |
7607254 |
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). |
unassigned |
0 |
2.4.1.143 | Congenital Disorders of Glycosylation |
7607254 |
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). |
unassigned |
0 |
2.4.1.143 | Intellectual Disability |
8577056 |
[Carbohydrate-deficient glycoprotein syndrome] |
causal interaction unassigned |
3 0 |
2.4.1.143 | Peripheral Nervous System Diseases |
8577056 |
[Carbohydrate-deficient glycoprotein syndrome] |
causal interaction unassigned |
3 0 |
2.4.1.143 | alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency |
9455908 |
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 2 1 0 |