EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.4.1.260 | Congenital Disorders of Glycosylation |
11983712 |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. |
causal interaction
unassigned |
4
0 |
| 2.4.1.260 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
11983712 |
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. |
causal interaction
unassigned |
4
0 |
| 2.4.1.260 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
12217961 |
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. |
causal interaction
unassigned |
3
0 |
| 2.4.1.260 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
34092405 |
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. |
causal interaction
unassigned |
3
0 |
| 2.4.1.260 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
34467644 |
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. |
causal interaction
unassigned |
1
0 |
| 2.4.1.260 | Glioma |
23818223 |
Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene. |
ongoing research
unassigned |
3
0 |
| 2.4.1.260 | Hydronephrosis |
34092405 |
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. |
causal interaction
unassigned |
3
0 |
| 2.4.1.260 | Metabolic Diseases |
34467644 |
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. |
causal interaction
unassigned |
1
0 |
