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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 |
|---|---|---|---|---|---|
| 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 |
| C4551482 | Adams-Oliver syndrome 1 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C4551484 | Leopard Syndrome 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4551496 | Hyperuricemic Nephropathy, Familial Juvenile 1 | UMOD | 7369 | uromodulin | P07911 |
| C4551497 | Ehlers-Danlos syndrome kyphoscoliotic type | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C4551504 | Oculocutaneous albinism type 1A | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| 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 |
| C4551507 | Buphthalmos | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C4551511 | X-linked sideroblastic anemia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C4551527 | Focal segmental glomerulosclerosis 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4551538 | refractory multiple myeloma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| 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 |
| C4551546 | Refractory Hairy Cell Leukemia | CD22 | 933 | CD22 molecule | P20273 |
| C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4551552 | Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C4551568 | Joubert syndrome 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551595 | Biliary Cirrhosis, Primary, 1 | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C4551627 | Granulocytopenic disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
