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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 |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | GALC | 2581 | galactosylceramidase | P54803 |
| C1306459 | Primary malignant neoplasm | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C1306459 | Primary malignant neoplasm | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1306459 | Primary malignant neoplasm | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1306459 | Primary malignant neoplasm | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C1306459 | Primary malignant neoplasm | GUSB | 2990 | glucuronidase beta | P08236 |
| C1306459 | Primary malignant neoplasm | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1306459 | Primary malignant neoplasm | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1306459 | Primary malignant neoplasm | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1306459 | Primary malignant neoplasm | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1306459 | Primary malignant neoplasm | ARSA | 410 | arylsulfatase A | P15289 |
| C1306459 | Primary malignant neoplasm | ARSB | 411 | arylsulfatase B | P15848 |
| C1306459 | Primary malignant neoplasm | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1306459 | Primary malignant neoplasm | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1306459 | Primary malignant neoplasm | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C1306459 | Primary malignant neoplasm | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1306459 | Primary malignant neoplasm | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C1306459 | Primary malignant neoplasm | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1306459 | Primary malignant neoplasm | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1306459 | Primary malignant neoplasm | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1306459 | Primary malignant neoplasm | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C1306459 | Primary malignant neoplasm | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1306459 | Primary malignant neoplasm | PSAP | 5660 | prosaposin | P07602 |
| C1306459 | Primary malignant neoplasm | CTSA | 5476 | cathepsin A | P10619 |
| C1306459 | Primary malignant neoplasm | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
