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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 | 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 |
| C0600241 | heroin abuse | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0600241 | heroin abuse | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0600241 | heroin abuse | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0848548 | hypertensive nephropathy | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0848548 | hypertensive nephropathy | CHGA | 1113 | chromogranin A | P10645 |
| C0848548 | hypertensive nephropathy | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0848548 | hypertensive nephropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0848548 | hypertensive nephropathy | UMOD | 7369 | uromodulin | P07911 |
| C0848548 | hypertensive nephropathy | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C0848548 | hypertensive nephropathy | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0021670 | insulinoma | HK1 | 3098 | hexokinase 1 | P19367 |
| C0021670 | insulinoma | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
