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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 |
|---|---|---|---|---|---|
| C0270764 | Motor Neuron Disease, Lower | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0270764 | Motor Neuron Disease, Lower | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0521659 | Motor Neuron Disease, Upper | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0026613 | Motor Skills Disorders | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0026613 | Motor Skills Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026636 | Mouth Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0026650 | Movement Disorders | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0026650 | Movement Disorders | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0026650 | Movement Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0026650 | Movement Disorders | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0026650 | Movement Disorders | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0026650 | Movement Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0026650 | Movement Disorders | PSAP | 5660 | prosaposin | P07602 |
| C0026650 | Movement Disorders | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0026650 | Movement Disorders | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0026650 | Movement Disorders | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0026650 | Movement Disorders | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0026650 | Movement Disorders | ACO2 | 50 | aconitase 2 | Q99798 |
| C0026650 | Movement Disorders | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0026650 | Movement Disorders | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0026650 | Movement Disorders | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0026650 | Movement Disorders | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0026650 | Movement Disorders | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0026650 | Movement Disorders | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0026650 | Movement Disorders | FOLR2 | 2350 | folate receptor beta | P14207 |
