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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 |
|---|---|---|---|---|---|
| C0024814 | Marinesco-Sjogren syndrome | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0024814 | Marinesco-Sjogren syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0024814 | Marinesco-Sjogren syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0024814 | Marinesco-Sjogren syndrome | FASN | 2194 | fatty acid synthase | P49327 |
| C0024814 | Marinesco-Sjogren syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0024814 | Marinesco-Sjogren syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0029438 | Massive Osteolyses | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029438 | Massive Osteolyses | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0029438 | Massive Osteolyses | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0029438 | Massive Osteolyses | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0029438 | Massive Osteolyses | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0029438 | Massive Osteolyses | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0029438 | Massive Osteolyses | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0029438 | Massive Osteolyses | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0029438 | Massive Osteolyses | SI | 6476 | sucrase-isomaltase | P14410 |
| C0029438 | Massive Osteolyses | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0029438 | Massive Osteolyses | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0029438 | Massive Osteolyses | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0334664 | Mast Cell Neoplasm | HS2ST1 | 9653 | heparan sulfate 2-O-sulfotransferase 1 | Q7LGA3 |
| C0334664 | Mast Cell Neoplasm | PLA2G2E | 30814 | phospholipase A2 group IIE | Q9NZK7 |
| C0334664 | Mast Cell Neoplasm | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0334664 | Mast Cell Neoplasm | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0036221 | Mast-Cell Sarcoma | CAT | 847 | catalase | P04040 |
| C0036221 | Mast-Cell Sarcoma | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0024894 | Mastitis | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
