EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.1.313 | Breast Neoplasms |
24285400 |
Involvement of B3GALNT2 overexpression in the cell growth of breast cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
3
3
0 |
| 2.4.1.313 | Carcinoma, Hepatocellular |
29618368 |
Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
2
4
1 |
| 2.4.1.313 | Hydrocephalus |
26452345 |
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. |
causal interaction
unassigned |
2
0 |
| 2.4.1.313 | Hydrocephalus |
30705458 |
Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2. |
causal interaction
therapeutic application
unassigned |
1
3
0 |
| 2.4.1.313 | Intellectual Disability |
29273094 |
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 2.4.1.313 | Muscular Dystrophies |
23453667 |
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of ?-Dystroglycan. |
causal interaction
unassigned |
2
0 |
| 2.4.1.313 | Muscular Dystrophies |
23929950 |
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. |
causal interaction
unassigned |
4
0 |
| 2.4.1.313 | Muscular Dystrophies |
24084573 |
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. |
causal interaction
unassigned |
3
0 |
| 2.4.1.313 | Muscular Dystrophies |
25353622 |
Integrative data mining highlights candidate genes for monogenic myopathies. |
unassigned |
0 |
| 2.4.1.313 | Muscular Dystrophies |
28303321 |
Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation. |
causal interaction
unassigned |
3
0 |
