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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C4316812 | Fibrinogen Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C4316899 | Cystinosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4316899 | Cystinosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C4316899 | Cystinosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C4317091 | Trisomy 18 Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C4317091 | Trisomy 18 Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C4317224 | Congenital disorder of glycosylation type 1q | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C4317224 | Congenital disorder of glycosylation type 1q | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C4317224 | Congenital disorder of glycosylation type 1q | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C4317224 | Congenital disorder of glycosylation type 1q | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C4317224 | Congenital disorder of glycosylation type 1q | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4317224 | Congenital disorder of glycosylation type 1q | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C4317224 | Congenital disorder of glycosylation type 1q | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C4317224 | Congenital disorder of glycosylation type 1q | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C4317295 | Congenital disorder of glycosylation type 1s | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C4317295 | Congenital disorder of glycosylation type 1s | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C4317295 | Congenital disorder of glycosylation type 1s | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C4317295 | Congenital disorder of glycosylation type 1s | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C4317295 | Congenital disorder of glycosylation type 1s | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
