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 |
---|---|---|---|---|---|
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 |
C0027831 | Neurofibromatosis 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0027831 | Neurofibromatosis 1 | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
C0027831 | Neurofibromatosis 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0027831 | Neurofibromatosis 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0027831 | Neurofibromatosis 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
C0027831 | Neurofibromatosis 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0027831 | Neurofibromatosis 1 | CNTN2 | 6900 | contactin 2 | Q02246 |
C0162678 | Neurofibromatoses | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0162678 | Neurofibromatoses | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
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 |
C1853578 | Neuroferritinopathy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
C1853578 | Neuroferritinopathy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C1853578 | Neuroferritinopathy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
C0206754 | Neuroendocrine Tumors | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C0206754 | Neuroendocrine Tumors | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
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Last updated: August 19, 2024