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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 |
|---|---|---|---|---|---|
| C0162678 | Neurofibromatoses | CD38 | 952 | CD38 molecule | P28907 |
| C0162678 | Neurofibromatoses | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0162678 | Neurofibromatoses | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0162678 | Neurofibromatoses | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0162678 | Neurofibromatoses | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0162678 | Neurofibromatoses | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0162678 | Neurofibromatoses | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0027831 | Neurofibromatosis 1 | ENO2 | 2026 | enolase 2 | P09104 |
| C0027831 | Neurofibromatosis 1 | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0027831 | Neurofibromatosis 1 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0027831 | Neurofibromatosis 1 | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0027831 | Neurofibromatosis 1 | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0027831 | Neurofibromatosis 1 | CD38 | 952 | CD38 molecule | P28907 |
| C0027831 | Neurofibromatosis 1 | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0027831 | Neurofibromatosis 1 | FH | 2271 | fumarate hydratase | P07954 |
| C0027831 | Neurofibromatosis 1 | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0027831 | Neurofibromatosis 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0027831 | Neurofibromatosis 1 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0027831 | Neurofibromatosis 1 | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0027831 | Neurofibromatosis 1 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0027831 | Neurofibromatosis 1 | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0027831 | Neurofibromatosis 1 | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0027831 | Neurofibromatosis 1 | CD14 | 929 | CD14 molecule | P08571 |
| C0027831 | Neurofibromatosis 1 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0027831 | Neurofibromatosis 1 | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
