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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 |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0025517 | Metabolic Diseases | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0025517 | Metabolic Diseases | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0025517 | Metabolic Diseases | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0025517 | Metabolic Diseases | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0025517 | Metabolic Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0025517 | Metabolic Diseases | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0025517 | Metabolic Diseases | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0025517 | Metabolic Diseases | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0025517 | Metabolic Diseases | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0025517 | Metabolic Diseases | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0025517 | Metabolic Diseases | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0025517 | Metabolic Diseases | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0025517 | Metabolic Diseases | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0025517 | Metabolic Diseases | KL | 9365 | klotho | Q9UEF7 |
| C0025517 | Metabolic Diseases | CD38 | 952 | CD38 molecule | P28907 |
| C0025517 | Metabolic Diseases | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0025517 | Metabolic Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0025517 | Metabolic Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0025517 | Metabolic Diseases | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0025517 | Metabolic Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0025517 | Metabolic Diseases | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0025517 | Metabolic Diseases | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0025517 | Metabolic Diseases | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0025517 | Metabolic Diseases | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
