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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0206729 | Neurofibrosarcoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0005697 | Neurogenic Urinary Bladder | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0005697 | Neurogenic Urinary Bladder | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0005697 | Neurogenic Urinary Bladder | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0005697 | Neurogenic Urinary Bladder | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0005697 | Neurogenic Urinary Bladder | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0005697 | Neurogenic Urinary Bladder | CD38 | 952 | CD38 molecule | P28907 |
