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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 |
|---|---|---|---|---|---|
| C0038013 | Ankylosing spondylitis | CD74 | 972 | CD74 molecule | P04233 |
| C0038013 | Ankylosing spondylitis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0038013 | Ankylosing spondylitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0038013 | Ankylosing spondylitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0038013 | Ankylosing spondylitis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0038013 | Ankylosing spondylitis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0038013 | Ankylosing spondylitis | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0038013 | Ankylosing spondylitis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0038013 | Ankylosing spondylitis | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0038013 | Ankylosing spondylitis | LSS | 4047 | lanosterol synthase | P48449 |
| C0038013 | Ankylosing spondylitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0038013 | Ankylosing spondylitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0038013 | Ankylosing spondylitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0038013 | Ankylosing spondylitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0038013 | Ankylosing spondylitis | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0038013 | Ankylosing spondylitis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0038013 | Ankylosing spondylitis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0152415 | Ankyloglossia | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0003081 | Anisometropia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0003081 | Anisometropia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0003076 | Aniridia | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0003076 | Aniridia | FH | 2271 | fumarate hydratase | P07954 |
| C0003076 | Aniridia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0003076 | Aniridia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0003076 | Aniridia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
