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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 |
|---|---|---|---|---|---|
| C0032463 | Polycythemia Vera | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0032463 | Polycythemia Vera | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0032463 | Polycythemia Vera | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0032461 | Polycythemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0032461 | Polycythemia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0032461 | Polycythemia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0032461 | Polycythemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0032461 | Polycythemia | BPGM | 669 | bisphosphoglycerate mutase | P07738 |
| C0032461 | Polycythemia | FH | 2271 | fumarate hydratase | P07954 |
| C0032461 | Polycythemia | ACO1 | 48 | aconitase 1 | P21399 |
| C0032461 | Polycythemia | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0032461 | Polycythemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0158683 | Polycystic liver disease | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0158683 | Polycystic liver disease | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0158683 | Polycystic liver disease | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C0158683 | Polycystic liver disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0158683 | Polycystic liver disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0158683 | Polycystic liver disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C2751306 | Polycystic kidney disease, type 2 | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C2751306 | Polycystic kidney disease, type 2 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2751306 | Polycystic kidney disease, type 2 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0032460 | Polycystic Ovary Syndrome | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0032460 | Polycystic Ovary Syndrome | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0032460 | Polycystic Ovary Syndrome | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0032460 | Polycystic Ovary Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
