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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 |
|---|---|---|---|---|---|
| C0268237 | Cytochrome-c Oxidase Deficiency | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0268237 | Cytochrome-c Oxidase Deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0268237 | Cytochrome-c Oxidase Deficiency | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0268237 | Cytochrome-c Oxidase Deficiency | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0268237 | Cytochrome-c Oxidase Deficiency | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0268237 | Cytochrome-c Oxidase Deficiency | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0268237 | Cytochrome-c Oxidase Deficiency | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0268237 | Cytochrome-c Oxidase Deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0268237 | Cytochrome-c Oxidase Deficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0268237 | Cytochrome-c Oxidase Deficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010692 | Cystitis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0010692 | Cystitis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0010692 | Cystitis | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0010692 | Cystitis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0010692 | Cystitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0010692 | Cystitis | CAT | 847 | catalase | P04040 |
| C0010692 | Cystitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0010692 | Cystitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0010692 | Cystitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010692 | Cystitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0010692 | Cystitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1857389 | Cystinuria, Type B | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857388 | Cystinuria, Type A | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0010691 | Cystinuria | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0010691 | Cystinuria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
