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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 |
|---|---|---|---|---|---|
| C0278619 | Extramedullary Plasmacytoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3805278 | Extrahepatic Cholangiocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3805278 | Extrahepatic Cholangiocarcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3805278 | Extrahepatic Cholangiocarcinoma | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C3805278 | Extrahepatic Cholangiocarcinoma | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3805278 | Extrahepatic Cholangiocarcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C3805278 | Extrahepatic Cholangiocarcinoma | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C3805278 | Extrahepatic Cholangiocarcinoma | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C3805278 | Extrahepatic Cholangiocarcinoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3805278 | Extrahepatic Cholangiocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C3805278 | Extrahepatic Cholangiocarcinoma | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C3805278 | Extrahepatic Cholangiocarcinoma | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C3805278 | Extrahepatic Cholangiocarcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3805278 | Extrahepatic Cholangiocarcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0279980 | Extra-osseous Ewing's sarcoma | LCT | 3938 | lactase | P09848 |
| C0279980 | Extra-osseous Ewing's sarcoma | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0030422 | Extra-Adrenal Paraganglioma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0030422 | Extra-Adrenal Paraganglioma | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0030422 | Extra-Adrenal Paraganglioma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0030422 | Extra-Adrenal Paraganglioma | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0030422 | Extra-Adrenal Paraganglioma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0015302 | External exotoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
