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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 |
|---|---|---|---|---|---|
| C4551627 | Granulocytopenic disorder | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4551630 | Ichthyosis Congenita I | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C4551630 | Ichthyosis Congenita I | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C4551637 | Erythrocytosis familial, 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C4551647 | Long QT Syndrome 1 | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C4551675 | Keratoderma, Palmoplantar | FKTN | 2218 | fukutin | O75072 |
| C4551675 | Keratoderma, Palmoplantar | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| 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 |
| C4551685 | Paralysis of diaphragm | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C4551686 | Malignant neoplasm of soft tissue | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C4551686 | Malignant neoplasm of soft tissue | HPSE | 10855 | heparanase | Q9Y251 |
| C4551686 | Malignant neoplasm of soft tissue | OGA | 10724 | O-GlcNAcase | O60502 |
| C4551686 | Malignant neoplasm of soft tissue | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
