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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 |
|---|---|---|---|---|---|
| C0085584 | Encephalopathies | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0085584 | Encephalopathies | FH | 2271 | fumarate hydratase | P07954 |
| C0085584 | Encephalopathies | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0085584 | Encephalopathies | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0085584 | Encephalopathies | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0085584 | Encephalopathies | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0085584 | Encephalopathies | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0085584 | Encephalopathies | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0085584 | Encephalopathies | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0085584 | Encephalopathies | PRNP | 5621 | prion protein | P04156 |
| C0085584 | Encephalopathies | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0085584 | Encephalopathies | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0085584 | Encephalopathies | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0085584 | Encephalopathies | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0085584 | Encephalopathies | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0085584 | Encephalopathies | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0085584 | Encephalopathies | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0085584 | Encephalopathies | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0085584 | Encephalopathies | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0085584 | Encephalopathies | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0085584 | Encephalopathies | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0085584 | Encephalopathies | AMT | 275 | aminomethyltransferase | P48728 |
| C0085584 | Encephalopathies | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0085584 | Encephalopathies | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0085584 | Encephalopathies | PRNP | 5621 | prion protein | F7VJQ1 |
