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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 |
|---|---|---|---|---|---|
| C0270922 | Peripheral demyelinating neuropathy | PRNP | 5621 | prion protein | P04156 |
| C0270922 | Peripheral demyelinating neuropathy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270922 | Peripheral demyelinating neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0270922 | Peripheral demyelinating neuropathy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0270922 | Peripheral demyelinating neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0235025 | Peripheral motor neuropathy | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0235025 | Peripheral motor neuropathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0235025 | Peripheral motor neuropathy | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C1377610 | Peritoneal Mesothelioma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1377610 | Peritoneal Mesothelioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1377610 | Peritoneal Mesothelioma | SDC1 | 6382 | syndecan 1 | P18827 |
| C1377610 | Peritoneal Mesothelioma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0041325 | Peritonitis, Tuberculous | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0041325 | Peritonitis, Tuberculous | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C1868720 | Periventricular Nodular Heterotopia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C1868720 | Periventricular Nodular Heterotopia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1868720 | Periventricular Nodular Heterotopia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1868720 | Periventricular Nodular Heterotopia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1868720 | Periventricular Nodular Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1849678 | Peroxisomal ACYL-COA oxidase deficiency | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0282528 | Peroxisomal Disorders | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0282528 | Peroxisomal Disorders | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0282528 | Peroxisomal Disorders | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
