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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 |
|---|---|---|---|---|---|
| C0026650 | Movement Disorders | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0026650 | Movement Disorders | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0026650 | Movement Disorders | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026650 | Movement Disorders | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0026650 | Movement Disorders | PRNP | 5621 | prion protein | P04156 |
| C0026650 | Movement Disorders | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0026650 | Movement Disorders | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0026650 | Movement Disorders | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0026650 | Movement Disorders | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0026650 | Movement Disorders | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0026650 | Movement Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0026650 | Movement Disorders | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0026650 | Movement Disorders | PRNP | 5621 | prion protein | F7VJQ1 |
| C0026650 | Movement Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026650 | Movement Disorders | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C1856113 | Mowat-Wilson syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0026654 | Moyamoya Disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0026654 | Moyamoya Disease | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0026654 | Moyamoya Disease | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0026654 | Moyamoya Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C2931384 | Moyamoya disease 1 | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0007130 | Mucinous Adenocarcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0007130 | Mucinous Adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0007130 | Mucinous Adenocarcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0007130 | Mucinous Adenocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
