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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 |
|---|---|---|---|---|---|
| C0085660 | Aseptic necrosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0085660 | Aseptic necrosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0085660 | Aseptic necrosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085660 | Aseptic necrosis | ARSB | 411 | arylsulfatase B | P15848 |
| C0008272 | Asiderotic anemia | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C2931840 | Aspartylglucosamidase (AGA) deficiency | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0268225 | Aspartylglucosaminuria | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0236792 | Asperger Syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0276651 | Aspergilloma | CAT | 847 | catalase | P04040 |
| C0004030 | Aspergillosis | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0004030 | Aspergillosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0004030 | Aspergillosis | CLEC1A | 51267 | C-type lectin domain family 1 member A | Q8NC01 |
| C0004030 | Aspergillosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0004030 | Aspergillosis | CAT | 847 | catalase | P04040 |
| C0004030 | Aspergillosis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | CAT | 847 | catalase | P04040 |
| C0004031 | Aspergillosis, Allergic Bronchopulmonary | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C0004045 | Asphyxia Neonatorum | ENO2 | 2026 | enolase 2 | P09104 |
| C0004045 | Asphyxia Neonatorum | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0004045 | Asphyxia Neonatorum | CAT | 847 | catalase | P04040 |
| C0004045 | Asphyxia Neonatorum | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
