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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 |
|---|---|---|---|---|---|
| C0007131 | Non-Small Cell Lung Carcinoma | GFPT2 | 9945 | glutamine-fructose-6-phosphate transaminase 2 | O94808 |
| C1335060 | Non-Small Cell Adenocarcinoma | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1335029 | Non-Neoplastic Peripheral Nervous System Disorder | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0338078 | Non-Functioning Pituitary Gland Neoplasm | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0334424 | Nodular melanoma | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0152268 | Nodular Sclerosis Classical Hodgkin Lymphoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0152268 | Nodular Sclerosis Classical Hodgkin Lymphoma | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C1334968 | Nodular Lymphocyte Predominant Hodgkin Lymphoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1334968 | Nodular Lymphocyte Predominant Hodgkin Lymphoma | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1334968 | Nodular Lymphocyte Predominant Hodgkin Lymphoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0018023 | Nodular Goiter | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0018023 | Nodular Goiter | LGALS3 | 3958 | galectin 3 | P17931 |
| C0018023 | Nodular Goiter | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C0018023 | Nodular Goiter | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0264893 | Nodal rhythm disorder | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C0264893 | Nodal rhythm disorder | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0398791 | Nijmegen Breakage Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0398791 | Nijmegen Breakage Syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
