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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 |
|---|---|---|---|---|---|
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | HK1 | 3098 | hexokinase 1 | P19367 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | TKT | 7086 | transketolase | P29401 |
| C2955673 | Urate nephropathy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2973527 | Dentinogenesis imperfecta without osteogenesis imperfecta | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C2973529 | Leukocytoclastic vasculitis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2973787 | Coxiella burnetii Infection | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C2973787 | Coxiella burnetii Infection | LSS | 4047 | lanosterol synthase | P48449 |
| C2981140 | Glaucoma of childhood | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C2981140 | Glaucoma of childhood | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C2981140 | Glaucoma of childhood | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C2981140 | Glaucoma of childhood | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C2981140 | Glaucoma of childhood | ARSD | 414 | arylsulfatase D | P51689 |
