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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 |
|---|---|---|---|---|---|
| C0751713 | Inclusion Body Myopathy, Sporadic | ACLY | 47 | ATP citrate lyase | P53396 |
| C0751713 | Inclusion Body Myopathy, Sporadic | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751748 | Nonketotic Hyperglycinemia | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0751748 | Nonketotic Hyperglycinemia | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0751748 | Nonketotic Hyperglycinemia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0751748 | Nonketotic Hyperglycinemia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0751748 | Nonketotic Hyperglycinemia | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0751748 | Nonketotic Hyperglycinemia | AMT | 275 | aminomethyltransferase | P48728 |
| C0751748 | Nonketotic Hyperglycinemia | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | CAT | 847 | catalase | P04040 |
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751772 | REM Sleep Behavior Disorder | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0751772 | REM Sleep Behavior Disorder | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | P04156 |
| C0751772 | REM Sleep Behavior Disorder | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751776 | Atypical Inclusion-Body Disease | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751776 | Atypical Inclusion-Body Disease | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751776 | Atypical Inclusion-Body Disease | PRNP | 5621 | prion protein | P04156 |
| C0751776 | Atypical Inclusion-Body Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751776 | Atypical Inclusion-Body Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751777 | Familial Progressive Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
