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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 |
|---|---|---|---|---|---|
| C0029172 | Oral Submucous Fibrosis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0029172 | Oral Submucous Fibrosis | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0029172 | Oral Submucous Fibrosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1568868 | Oral Mucositis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C3887709 | Optic Neuropathy | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C3887709 | Optic Neuropathy | ACO2 | 50 | aconitase 2 | Q99798 |
| C3887709 | Optic Neuropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887709 | Optic Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3887709 | Optic Neuropathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0029134 | Optic Neuritis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0029134 | Optic Neuritis | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0029134 | Optic Neuritis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0029134 | Optic Neuritis | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0029134 | Optic Neuritis | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0029134 | Optic Neuritis | CAT | 847 | catalase | P04040 |
| C0029134 | Optic Neuritis | CD14 | 929 | CD14 molecule | P08571 |
| C0346326 | Optic Nerve Glioma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0346326 | Optic Nerve Glioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346326 | Optic Nerve Glioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346326 | Optic Nerve Glioma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0346326 | Optic Nerve Glioma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1833798 | Optic Nerve Aplasia, Bilateral | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0917796 | Optic Atrophy, Hereditary, Leber | ENO2 | 2026 | enolase 2 | P09104 |
| C0917796 | Optic Atrophy, Hereditary, Leber | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0917796 | Optic Atrophy, Hereditary, Leber | ACE | 1636 | angiotensin I converting enzyme | P12821 |
