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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 |
|---|---|---|---|---|---|
| C0015230 | Exanthema | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0015230 | Exanthema | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0015230 | Exanthema | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0015230 | Exanthema | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0015230 | Exanthema | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0015230 | Exanthema | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015230 | Exanthema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0015230 | Exanthema | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0015230 | Exanthema | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0014877 | Esotropia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0014877 | Esotropia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0014877 | Esotropia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014877 | Esotropia | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0014877 | Esotropia | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0014877 | Esotropia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0014877 | Esotropia | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0014877 | Esotropia | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0014877 | Esotropia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0014877 | Esotropia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0014877 | Esotropia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0014877 | Esotropia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0014877 | Esotropia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0014877 | Esotropia | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0014877 | Esotropia | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0014877 | Esotropia | AGRN | 375790 | agrin | O00468 |
