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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 |
|---|---|---|---|---|---|
| C4551538 | refractory multiple myeloma | SDC1 | 6382 | syndecan 1 | P18827 |
| C4551538 | refractory multiple myeloma | CD38 | 952 | CD38 molecule | P28907 |
| C4551538 | refractory multiple myeloma | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C4551538 | refractory multiple myeloma | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C4551527 | Focal segmental glomerulosclerosis 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551511 | X-linked sideroblastic anemia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C4551507 | Buphthalmos | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C4551506 | Paroxysmal Nonkinesigenic Dyskinesia 1 | CD14 | 929 | CD14 molecule | P08571 |
| C4551506 | Paroxysmal Nonkinesigenic Dyskinesia 1 | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
| C4551506 | Paroxysmal Nonkinesigenic Dyskinesia 1 | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C4551504 | Oculocutaneous albinism type 1A | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C4551497 | Ehlers-Danlos syndrome kyphoscoliotic type | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C4551496 | Hyperuricemic Nephropathy, Familial Juvenile 1 | UMOD | 7369 | uromodulin | P07911 |
| C4551484 | Leopard Syndrome 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4551482 | Adams-Oliver syndrome 1 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C4551479 | Schwartz-Jampel Syndrome, Type 1 | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C4551479 | Schwartz-Jampel Syndrome, Type 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | GLA | 2717 | galactosidase alpha | P06280 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | LGALS3 | 3958 | galectin 3 | P17931 |
