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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 |
|---|---|---|---|---|---|
| C0751039 | Cockayne Syndrome, Type I | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0751039 | Cockayne Syndrome, Type I | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751039 | Cockayne Syndrome, Type I | ANXA5 | 308 | annexin A5 | P08758 |
| C0751039 | Cockayne Syndrome, Type I | CAT | 847 | catalase | P04040 |
| C0751039 | Cockayne Syndrome, Type I | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0751039 | Cockayne Syndrome, Type I | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0751038 | Cockayne Syndrome, Type II | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0751038 | Cockayne Syndrome, Type II | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0265252 | Coffin-Lowry syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0265252 | Coffin-Lowry syndrome | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0265252 | Coffin-Lowry syndrome | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0265252 | Coffin-Lowry syndrome | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0265338 | Coffin-Siris syndrome | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0265338 | Coffin-Siris syndrome | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0265338 | Coffin-Siris syndrome | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0265338 | Coffin-Siris syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0265338 | Coffin-Siris syndrome | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0265338 | Coffin-Siris syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0265338 | Coffin-Siris syndrome | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0086774 | Cold paroxysmal hemoglobinuria | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0086774 | Cold paroxysmal hemoglobinuria | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0009319 | Colitis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009319 | Colitis | CHST4 | 10164 | carbohydrate sulfotransferase 4 | Q8NCG5 |
| C0009319 | Colitis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0009319 | Colitis | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
