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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 |
|---|---|---|---|---|---|
| C0751674 | Lymphangioleiomyomatosis | SELL | 6402 | selectin L | P14151 |
| C0751674 | Lymphangioleiomyomatosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0751674 | Lymphangioleiomyomatosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0751674 | Lymphangioleiomyomatosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0751674 | Lymphangioleiomyomatosis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0751674 | Lymphangioleiomyomatosis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0751674 | Lymphangioleiomyomatosis | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0751674 | Lymphangioleiomyomatosis | PLAAT3 | 11145 | phospholipase A and acyltransferase 3 | P53816 |
| C0751674 | Lymphangioleiomyomatosis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0751674 | Lymphangioleiomyomatosis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0751674 | Lymphangioleiomyomatosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751651 | Mitochondrial Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C0751651 | Mitochondrial Diseases | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0751651 | Mitochondrial Diseases | CS | 1431 | citrate synthase | O75390 |
| C0751651 | Mitochondrial Diseases | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0751651 | Mitochondrial Diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0751651 | Mitochondrial Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0751651 | Mitochondrial Diseases | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0751651 | Mitochondrial Diseases | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751651 | Mitochondrial Diseases | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0751651 | Mitochondrial Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751651 | Mitochondrial Diseases | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0751651 | Mitochondrial Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0751651 | Mitochondrial Diseases | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0751651 | Mitochondrial Diseases | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
