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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 |
|---|---|---|---|---|---|
| C0023529 | Leukomalacia, Periventricular | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0023529 | Leukomalacia, Periventricular | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | PSAP | 5660 | prosaposin | P07602 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | PRNP | 5621 | prion protein | P04156 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | CAT | 847 | catalase | P04040 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | CD14 | 929 | CD14 molecule | P08571 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | ARSF | 416 | arylsulfatase F | P54793 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | PRNP | 5621 | prion protein | F7VJQ1 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0023524 | Leukoencephalopathy, Progressive Multifocal | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0023522 | Leukodystrophy, Metachromatic | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0023522 | Leukodystrophy, Metachromatic | GALC | 2581 | galactosylceramidase | P54803 |
| C0023522 | Leukodystrophy, Metachromatic | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0023522 | Leukodystrophy, Metachromatic | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0023522 | Leukodystrophy, Metachromatic | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0023522 | Leukodystrophy, Metachromatic | ARSA | 410 | arylsulfatase A | P15289 |
| C0023522 | Leukodystrophy, Metachromatic | ARSB | 411 | arylsulfatase B | P15848 |
| C0023522 | Leukodystrophy, Metachromatic | PSAP | 5660 | prosaposin | P07602 |
| C0023522 | Leukodystrophy, Metachromatic | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0023522 | Leukodystrophy, Metachromatic | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0023521 | Globoid cell leukodystrophy | GALC | 2581 | galactosylceramidase | P54803 |
