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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 |
|---|---|---|---|---|---|
| C0002622 | Amnesia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0002622 | Amnesia | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0002622 | Amnesia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0002622 | Amnesia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0002622 | Amnesia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0002622 | Amnesia | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0002622 | Amnesia | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0002622 | Amnesia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0002514 | Amino Acid Metabolism, Inborn Errors | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0002514 | Amino Acid Metabolism, Inborn Errors | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0002453 | Amenorrhea | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0002453 | Amenorrhea | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0002453 | Amenorrhea | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0002452 | Amelogenesis Imperfecta | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0002452 | Amelogenesis Imperfecta | MMP25 | 64386 | matrix metallopeptidase 25 | Q9NPA2 |
| C0002448 | Ameloblastoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0002448 | Ameloblastoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0002448 | Ameloblastoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0002448 | Ameloblastoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0002448 | Ameloblastoma | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0002448 | Ameloblastoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0002448 | Ameloblastoma | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0002448 | Ameloblastoma | GPC3 | 2719 | glypican 3 | P51654 |
| C0002448 | Ameloblastoma | GPC1 | 2817 | glypican 1 | P35052 |
| C0002448 | Ameloblastoma | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
