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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 |
|---|---|---|---|---|---|
| C0011644 | Scleroderma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011644 | Scleroderma | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0011644 | Scleroderma | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0011644 | Scleroderma | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0011644 | Scleroderma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0011644 | Scleroderma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0011644 | Scleroderma | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0011644 | Scleroderma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1136382 | Sclerocystic Ovaries | MGAT5B | 146664 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B | Q3V5L5 |
| C1136382 | Sclerocystic Ovaries | FUT7 | 2529 | fucosyltransferase 7 | Q11130 |
| C1136382 | Sclerocystic Ovaries | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C1136382 | Sclerocystic Ovaries | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1136382 | Sclerocystic Ovaries | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C1136382 | Sclerocystic Ovaries | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C1136382 | Sclerocystic Ovaries | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C1136382 | Sclerocystic Ovaries | LPCAT2 | 54947 | lysophosphatidylcholine acyltransferase 2 | Q7L5N7 |
| C1136382 | Sclerocystic Ovaries | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C1136382 | Sclerocystic Ovaries | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1136382 | Sclerocystic Ovaries | FBXO44 | 93611 | F-box protein 44 | Q9H4M3 |
| C1136382 | Sclerocystic Ovaries | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C1136382 | Sclerocystic Ovaries | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C1136382 | Sclerocystic Ovaries | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C1136382 | Sclerocystic Ovaries | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1136382 | Sclerocystic Ovaries | SFTPC | 6440 | surfactant protein C | P11686 |
| C1136382 | Sclerocystic Ovaries | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
