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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0027832 | Neurofibromatosis 2 | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
C0027832 | Neurofibromatosis 2 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0027832 | Neurofibromatosis 2 | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0027832 | Neurofibromatosis 2 | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
C0027832 | Neurofibromatosis 2 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0027832 | Neurofibromatosis 2 | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C0027832 | Neurofibromatosis 2 | FASN | 2194 | fatty acid synthase | P49327 |
C0027832 | Neurofibromatosis 2 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0027832 | Neurofibromatosis 2 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0027832 | Neurofibromatosis 2 | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
C0027832 | Neurofibromatosis 2 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
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 |
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Last updated: August 19, 2024