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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 |
|---|---|---|---|---|---|
| C4551675 | Keratoderma, Palmoplantar | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C4551675 | Keratoderma, Palmoplantar | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C4551675 | Keratoderma, Palmoplantar | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C4551675 | Keratoderma, Palmoplantar | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C4551675 | Keratoderma, Palmoplantar | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C4551675 | Keratoderma, Palmoplantar | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C4551675 | Keratoderma, Palmoplantar | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C4551675 | Keratoderma, Palmoplantar | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C4551675 | Keratoderma, Palmoplantar | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C4551675 | Keratoderma, Palmoplantar | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4551675 | Keratoderma, Palmoplantar | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C4551675 | Keratoderma, Palmoplantar | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4551675 | Keratoderma, Palmoplantar | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C4551647 | Long QT Syndrome 1 | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C4551637 | Erythrocytosis familial, 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C4551630 | Ichthyosis Congenita I | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C4551630 | Ichthyosis Congenita I | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C4551627 | Granulocytopenic disorder | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C4551627 | Granulocytopenic disorder | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4551595 | Biliary Cirrhosis, Primary, 1 | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C4551568 | Joubert syndrome 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551552 | Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4551546 | Refractory Hairy Cell Leukemia | CD22 | 933 | CD22 molecule | P20273 |
| C4551538 | refractory multiple myeloma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
