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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 |
|---|---|---|---|---|---|
| C0006114 | Cerebral Edema | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0006114 | Cerebral Edema | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0006118 | Brain Neoplasms | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0006118 | Brain Neoplasms | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0006118 | Brain Neoplasms | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0006118 | Brain Neoplasms | B3GALNT1 | 8706 | beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) | O75752 |
| C0006118 | Brain Neoplasms | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0006118 | Brain Neoplasms | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0006118 | Brain Neoplasms | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0006118 | Brain Neoplasms | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0006118 | Brain Neoplasms | ARSA | 410 | arylsulfatase A | P15289 |
| C0006118 | Brain Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0006118 | Brain Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0006118 | Brain Neoplasms | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0006118 | Brain Neoplasms | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0006118 | Brain Neoplasms | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0006118 | Brain Neoplasms | ENO2 | 2026 | enolase 2 | P09104 |
| C0006118 | Brain Neoplasms | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0006118 | Brain Neoplasms | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0006118 | Brain Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0006118 | Brain Neoplasms | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0006118 | Brain Neoplasms | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0006118 | Brain Neoplasms | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0006118 | Brain Neoplasms | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0006118 | Brain Neoplasms | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
