EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.1.50 | Porencephaly |
30822656 |
Collagen glycosylation. |
causal interaction
unassigned |
4
0 |
| 2.4.1.50 | Porencephaly |
33709034 |
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. |
causal interaction
unassigned |
2
0 |
| 2.4.1.50 | procollagen galactosyltransferase deficiency |
33865898 |
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
4
0 |
| 2.4.1.50 | Pulmonary Fibrosis |
6200953 |
Enzymes of collagen synthesis in lung tissues of bleomycin-induced pulmonary fibrosis. |
unassigned |
0 |
| 2.4.1.50 | Refractive Errors |
27320698 |
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. |
causal interaction
unassigned |
4
0 |
| 2.4.1.50 | Retinal Detachment |
27320698 |
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. |
causal interaction
unassigned |
4
0 |
| 2.4.1.50 | Retinoblastoma |
33590792 |
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. |
unassigned |
0 |
| 2.4.1.50 | Sarcoma |
33590792 |
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells. |
unassigned |
0 |
| 2.4.1.50 | Strabismus |
27320698 |
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. |
causal interaction
unassigned |
4
0 |
