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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 |
|---|---|---|---|---|---|
| C1384666 | hearing impairment | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1384666 | hearing impairment | TECTA | 7007 | tectorin alpha | O75443 |
| C1384666 | hearing impairment | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1384666 | hearing impairment | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1384666 | hearing impairment | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C1384666 | hearing impairment | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C1384666 | hearing impairment | GCK | 2645 | glucokinase | P35557 |
| C1384666 | hearing impairment | GPC3 | 2719 | glypican 3 | P51654 |
| C1384666 | hearing impairment | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1384666 | hearing impairment | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1384666 | hearing impairment | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1384666 | hearing impairment | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1384666 | hearing impairment | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1384666 | hearing impairment | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1384666 | hearing impairment | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C1384666 | hearing impairment | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1384666 | hearing impairment | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1384666 | hearing impairment | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1384666 | hearing impairment | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C1384666 | hearing impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1384666 | hearing impairment | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1384666 | hearing impairment | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1384666 | hearing impairment | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1384666 | hearing impairment | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1384666 | hearing impairment | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
