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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 |
|---|---|---|---|---|---|
| C4290140 | recurrent myocardial infarction | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C4290140 | recurrent myocardial infarction | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| 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 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | ALDH1B1 | 219 | aldehyde dehydrogenase 1 family member B1 | P30837 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0039101 | synovial sarcoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0039101 | synovial sarcoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0039101 | synovial sarcoma | ENO2 | 2026 | enolase 2 | P09104 |
| C0039101 | synovial sarcoma | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0039101 | synovial sarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0039101 | synovial sarcoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0039101 | synovial sarcoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0039101 | synovial sarcoma | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0039101 | synovial sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0039101 | synovial sarcoma | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0039101 | synovial sarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0039101 | synovial sarcoma | SELE | 6401 | selectin E | P16581 |
| C0039101 | synovial sarcoma | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0039101 | synovial sarcoma | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0039101 | synovial sarcoma | GLO1 | 2739 | glyoxalase I | Q04760 |
