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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 |
|---|---|---|---|---|---|
| C0751093 | Dystonia, Limb | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0751093 | Dystonia, Limb | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0751122 | Infantile Severe Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751122 | Infantile Severe Myoclonic Epilepsy | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0751173 | Glycogen Storage Disease Type II, Infantile | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0751173 | Glycogen Storage Disease Type II, Infantile | SI | 6476 | sucrase-isomaltase | P14410 |
| C0751173 | Glycogen Storage Disease Type II, Infantile | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0751177 | Cancer of Head | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751177 | Cancer of Head | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0751177 | Cancer of Head | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0751177 | Cancer of Head | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0751202 | Cystathionine beta-Synthase Deficiency Disease | CAT | 847 | catalase | P04040 |
| C0751202 | Cystathionine beta-Synthase Deficiency Disease | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0751208 | Juvenile Huntington Disease | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751229 | Hypersomnolence | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | P04156 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751265 | Learning Disabilities | KL | 9365 | klotho | Q9UEF7 |
| C0751265 | Learning Disabilities | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751265 | Learning Disabilities | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
