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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 | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0025517 | Metabolic Diseases | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0025517 | Metabolic Diseases | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0025517 | Metabolic Diseases | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0025517 | Metabolic Diseases | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0025517 | Metabolic Diseases | GALC | 2581 | galactosylceramidase | P54803 |
| C0025517 | Metabolic Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0025517 | Metabolic Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C0025517 | Metabolic Diseases | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0025517 | Metabolic Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C0025517 | Metabolic Diseases | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0025517 | Metabolic Diseases | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0025517 | Metabolic Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025517 | Metabolic Diseases | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0025517 | Metabolic Diseases | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
| C0025517 | Metabolic Diseases | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0025517 | Metabolic Diseases | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0025517 | Metabolic Diseases | KLB | 152831 | klotho beta | Q86Z14 |
| C0025517 | Metabolic Diseases | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0025517 | Metabolic Diseases | ENO3 | 2027 | enolase 3 | P13929 |
| C0025517 | Metabolic Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0025517 | Metabolic Diseases | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C0025517 | Metabolic Diseases | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0025517 | Metabolic Diseases | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0025517 | Metabolic Diseases | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
