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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 |
|---|---|---|---|---|---|
| C2931002 | Congenital disorder of glycosylation type 1H | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C2931001 | Congenital disorder of glycosylation type 1G | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C2930997 | Congenital disorder of glycosylation type 1C | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C1865145 | Congenital disorder of glycosylation type 1B | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1865145 | Congenital disorder of glycosylation type 1B | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0349653 | Congenital disorder of glycosylation type 1A | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0349653 | Congenital disorder of glycosylation type 1A | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0349653 | Congenital disorder of glycosylation type 1A | OGA | 10724 | O-GlcNAcase | O60502 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C0235833 | Congenital diaphragmatic hernia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0235833 | Congenital diaphragmatic hernia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0235833 | Congenital diaphragmatic hernia | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0235833 | Congenital diaphragmatic hernia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0235833 | Congenital diaphragmatic hernia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0235833 | Congenital diaphragmatic hernia | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0235833 | Congenital diaphragmatic hernia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0235833 | Congenital diaphragmatic hernia | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0235833 | Congenital diaphragmatic hernia | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0235833 | Congenital diaphragmatic hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0235833 | Congenital diaphragmatic hernia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0235833 | Congenital diaphragmatic hernia | SFTPD | 6441 | surfactant protein D | P35247 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0235833 | Congenital diaphragmatic hernia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0235833 | Congenital diaphragmatic hernia | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
