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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 |
|---|---|---|---|---|---|
| C0034194 | Pyloric Stenosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0034194 | Pyloric Stenosis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0034194 | Pyloric Stenosis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0034186 | Pyelonephritis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0034186 | Pyelonephritis | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0034186 | Pyelonephritis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0034186 | Pyelonephritis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0034186 | Pyelonephritis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0034186 | Pyelonephritis | UMOD | 7369 | uromodulin | P07911 |
| C0034186 | Pyelonephritis | CAT | 847 | catalase | P04040 |
| C0034186 | Pyelonephritis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0034186 | Pyelonephritis | REG3G | 130120 | regenerating family member 3 gamma | Q6UW15 |
| C0238402 | Pycnodysostosis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0030246 | Pustulosis of Palms and Soles | CAT | 847 | catalase | P04040 |
| C0030246 | Pustulosis of Palms and Soles | VNN2 | 8875 | vanin 2 | O95498 |
| C0030246 | Pustulosis of Palms and Soles | VNN1 | 8876 | vanin 1 | O95497 |
| C0152081 | Pustular psoriasis | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0152081 | Pustular psoriasis | IL1RL2 | 8808 | interleukin 1 receptor like 2 | Q9HB29 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
