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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 |
|---|---|---|---|---|---|
| C0010674 | Cystic Fibrosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0010674 | Cystic Fibrosis | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0010674 | Cystic Fibrosis | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0010674 | Cystic Fibrosis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0010674 | Cystic Fibrosis | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0010674 | Cystic Fibrosis | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0010674 | Cystic Fibrosis | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0010674 | Cystic Fibrosis | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0010674 | Cystic Fibrosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0010674 | Cystic Fibrosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010674 | Cystic Fibrosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0010674 | Cystic Fibrosis | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0010674 | Cystic Fibrosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0010674 | Cystic Fibrosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0010674 | Cystic Fibrosis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0010674 | Cystic Fibrosis | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0010674 | Cystic Fibrosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0010674 | Cystic Fibrosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0010674 | Cystic Fibrosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010674 | Cystic Fibrosis | SFTPC | 6440 | surfactant protein C | P11686 |
| C0010674 | Cystic Fibrosis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0010691 | Cystinuria | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0010691 | Cystinuria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0010692 | Cystitis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0010692 | Cystitis | OGA | 10724 | O-GlcNAcase | O60502 |
