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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 |
|---|---|---|---|---|---|
| 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 |
| C3281084 | Congenital disorder of glycosylation type 1r | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| 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 |
| C4317295 | Congenital disorder of glycosylation type 1s | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C4317295 | Congenital disorder of glycosylation type 1s | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C4317295 | Congenital disorder of glycosylation type 1s | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C4317295 | Congenital disorder of glycosylation type 1s | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4317295 | Congenital disorder of glycosylation type 1s | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C4317295 | Congenital disorder of glycosylation type 1s | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C3810062 | Congenital disorder of glycosylation type 1w | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C2931008 | Congenital disorder of glycosylation type 2A | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
