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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 |
|---|---|---|---|---|---|
| C0011206 | Delirium | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011206 | Delirium | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0011206 | Delirium | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0011206 | Delirium | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0011195 | Dejerine-Sottas Disease (disorder) | HPSE | 10855 | heparanase | Q9Y251 |
| C0011195 | Dejerine-Sottas Disease (disorder) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0011195 | Dejerine-Sottas Disease (disorder) | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0011195 | Dejerine-Sottas Disease (disorder) | CAT | 847 | catalase | P04040 |
| C0011195 | Dejerine-Sottas Disease (disorder) | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0011195 | Dejerine-Sottas Disease (disorder) | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0011195 | Dejerine-Sottas Disease (disorder) | GPX2 | 2877 | glutathione peroxidase 2 | P18283 |
| C0011195 | Dejerine-Sottas Disease (disorder) | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0011195 | Dejerine-Sottas Disease (disorder) | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0011195 | Dejerine-Sottas Disease (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0011195 | Dejerine-Sottas Disease (disorder) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0011127 | Pressure Ulcer | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0011127 | Pressure Ulcer | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0011127 | Pressure Ulcer | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0011127 | Pressure Ulcer | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0011127 | Pressure Ulcer | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0011127 | Pressure Ulcer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0011053 | Deafness | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0011053 | Deafness | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0011053 | Deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0011053 | Deafness | TALDO1 | 6888 | transaldolase 1 | P37837 |
