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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 |
|---|---|---|---|---|---|
| C0015300 | Exophthalmos | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015230 | Exanthema | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0015230 | Exanthema | ENO1 | 2023 | enolase 1 | P06733 |
| C0015230 | Exanthema | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0015230 | Exanthema | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0015230 | Exanthema | LDHB | 3945 | lactate dehydrogenase B | P07195 |
| C0015230 | Exanthema | LGALS9 | 3965 | galectin 9 | O00182 |
| C0015230 | Exanthema | LYZ | 4069 | lysozyme | P61626 |
| C0015230 | Exanthema | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0015230 | Exanthema | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0015230 | Exanthema | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C0015230 | Exanthema | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0015230 | Exanthema | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0015230 | Exanthema | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015230 | Exanthema | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0015230 | Exanthema | LGALS3 | 3958 | galectin 3 | P17931 |
| C0015230 | Exanthema | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0015230 | Exanthema | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0015230 | Exanthema | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0015230 | Exanthema | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0015230 | Exanthema | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0015230 | Exanthema | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0015230 | Exanthema | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0015230 | Exanthema | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0015230 | Exanthema | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
