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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 |
|---|---|---|---|---|---|
| C0026269 | Mitral Valve Stenosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0026269 | Mitral Valve Stenosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0026269 | Mitral Valve Stenosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0026269 | Mitral Valve Stenosis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0026269 | Mitral Valve Stenosis | LALBA | 3906 | lactalbumin alpha | P00709 |
| C0026269 | Mitral Valve Stenosis | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0026269 | Mitral Valve Stenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0026269 | Mitral Valve Stenosis | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0026269 | Mitral Valve Stenosis | CAT | 847 | catalase | P04040 |
| C0026269 | Mitral Valve Stenosis | CD1D | 912 | CD1d molecule | P15813 |
| C0026269 | Mitral Valve Stenosis | CD14 | 929 | CD14 molecule | P08571 |
| C0026269 | Mitral Valve Stenosis | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0026269 | Mitral Valve Stenosis | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0026269 | Mitral Valve Stenosis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0152266 | Mixed Cellularity Hodgkin Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0152266 | Mixed Cellularity Hodgkin Lymphoma | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0026272 | Mixed Connective Tissue Disease | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0026272 | Mixed Connective Tissue Disease | SFTPD | 6441 | surfactant protein D | P35247 |
| C0334524 | Mixed Germ Cell Tumor | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0280793 | Mixed Oligodendroglioma-Astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0280793 | Mixed Oligodendroglioma-Astrocytoma | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0280793 | Mixed Oligodendroglioma-Astrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0280793 | Mixed Oligodendroglioma-Astrocytoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026277 | Mixed Salivary Gland Tumor | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0026277 | Mixed Salivary Gland Tumor | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
