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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 |
|---|---|---|---|---|---|
| C0340968 | Deficiency of pyruvate kinase | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0342731 | Deficiency of mevalonate kinase | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0268418 | Deficiency of glycerol kinase | GK | 2710 | glycerol kinase | P32189 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | GLA | 2717 | galactosidase alpha | P06280 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| 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 |
| C0268155 | Deficiency of galactokinase | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268155 | Deficiency of galactokinase | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
