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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 |
|---|---|---|---|---|---|
| C0030421 | Paraganglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0030421 | Paraganglioma | CHGA | 1113 | chromogranin A | P10645 |
| C0030421 | Paraganglioma | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0030421 | Paraganglioma | FH | 2271 | fumarate hydratase | P07954 |
| C0030421 | Paraganglioma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0030421 | Paraganglioma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0030421 | Paraganglioma | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0030421 | Paraganglioma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0030421 | Paraganglioma | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0030421 | Paraganglioma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0030421 | Paraganglioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0030421 | Paraganglioma | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0030421 | Paraganglioma | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0030421 | Paraganglioma | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0030421 | Paraganglioma | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0030421 | Paraganglioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0030421 | Paraganglioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0030421 | Paraganglioma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0267725 | Paraesophageal hernia | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0267725 | Paraesophageal hernia | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0267725 | Paraesophageal hernia | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0267725 | Paraesophageal hernia | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0030409 | Paracoccidioidomycosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0030409 | Paracoccidioidomycosis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0030409 | Paracoccidioidomycosis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
