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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 |
|---|---|---|---|---|---|
| C0751777 | Familial Progressive Myoclonic Epilepsy | PRNP | 5621 | prion protein | P04156 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751778 | Myoclonic Epilepsies, Progressive | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751778 | Myoclonic Epilepsies, Progressive | ARSA | 410 | arylsulfatase A | P15289 |
| C0751778 | Myoclonic Epilepsies, Progressive | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751778 | Myoclonic Epilepsies, Progressive | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751778 | Myoclonic Epilepsies, Progressive | PRNP | 5621 | prion protein | P04156 |
| C0751778 | Myoclonic Epilepsies, Progressive | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751778 | Myoclonic Epilepsies, Progressive | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751779 | Action Myoclonus-Renal Failure Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751780 | Biotin-Responsive Encephalopathy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751780 | Biotin-Responsive Encephalopathy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751780 | Biotin-Responsive Encephalopathy | PRNP | 5621 | prion protein | P04156 |
| C0751780 | Biotin-Responsive Encephalopathy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751780 | Biotin-Responsive Encephalopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0751781 | Dentatorubral-Pallidoluysian Atrophy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
