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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 |
|---|---|---|---|---|---|
| C0023521 | Globoid cell leukodystrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0023521 | Globoid cell leukodystrophy | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023521 | Globoid cell leukodystrophy | ARSA | 410 | arylsulfatase A | P15289 |
| C0023521 | Globoid cell leukodystrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023521 | Globoid cell leukodystrophy | PSAP | 5660 | prosaposin | P07602 |
| C0023521 | Globoid cell leukodystrophy | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0023521 | Globoid cell leukodystrophy | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0023521 | Globoid cell leukodystrophy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0023521 | Globoid cell leukodystrophy | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0023521 | Globoid cell leukodystrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023521 | Globoid cell leukodystrophy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0023520 | Leukodystrophy | GALC | 2581 | galactosylceramidase | P54803 |
| C0023520 | Leukodystrophy | ARSA | 410 | arylsulfatase A | P15289 |
| C0023520 | Leukodystrophy | PSAP | 5660 | prosaposin | P07602 |
| C0023520 | Leukodystrophy | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0023520 | Leukodystrophy | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0023520 | Leukodystrophy | PC | 5091 | pyruvate carboxylase | P11498 |
| C0023520 | Leukodystrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0023520 | Leukodystrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0023520 | Leukodystrophy | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0023520 | Leukodystrophy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0023520 | Leukodystrophy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0023520 | Leukodystrophy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0023520 | Leukodystrophy | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0023520 | Leukodystrophy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
