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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 |
|---|---|---|---|---|---|
| C0013384 | Dyskinetic syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013384 | Dyskinetic syndrome | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013384 | Dyskinetic syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013384 | Dyskinetic syndrome | RENBP | 5973 | renin binding protein | P51606 |
| C0013384 | Dyskinetic syndrome | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0013384 | Dyskinetic syndrome | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013384 | Dyskinetic syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0013377 | Dysgerminoma | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0013377 | Dysgerminoma | CD14 | 929 | CD14 molecule | P08571 |
| C0013377 | Dysgerminoma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0013377 | Dysgerminoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013377 | Dysgerminoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0013377 | Dysgerminoma | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0013377 | Dysgerminoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013371 | Shigella Infections | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0013371 | Shigella Infections | GUSB | 2990 | glucuronidase beta | P08236 |
| C0013371 | Shigella Infections | CTSA | 5476 | cathepsin A | P10619 |
| C0013371 | Shigella Infections | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0013371 | Shigella Infections | LYZ | 4069 | lysozyme | P61626 |
| C0013371 | Shigella Infections | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0013371 | Shigella Infections | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0013371 | Shigella Infections | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0013371 | Shigella Infections | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0013371 | Shigella Infections | CD48 | 962 | CD48 molecule | P09326 |
| C0013371 | Shigella Infections | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
