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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 |
|---|---|---|---|---|---|
| C0017921 | Glycogen storage disease type II | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0017921 | Glycogen storage disease type II | ARSB | 411 | arylsulfatase B | P15848 |
| C0017921 | Glycogen storage disease type II | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0017921 | Glycogen storage disease type II | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0017921 | Glycogen storage disease type II | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0017921 | Glycogen storage disease type II | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0017921 | Glycogen storage disease type II | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0017921 | Glycogen storage disease type II | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017921 | Glycogen storage disease type II | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0017921 | Glycogen storage disease type II | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0017921 | Glycogen storage disease type II | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017921 | Glycogen storage disease type II | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0017921 | Glycogen storage disease type II | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0017921 | Glycogen storage disease type II | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0017921 | Glycogen storage disease type II | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0017921 | Glycogen storage disease type II | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0017921 | Glycogen storage disease type II | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0017921 | Glycogen storage disease type II | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0017921 | Glycogen storage disease type II | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0017921 | Glycogen storage disease type II | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0017921 | Glycogen storage disease type II | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0017921 | Glycogen storage disease type II | CALR | 811 | calreticulin | P27797 |
| C0017921 | Glycogen storage disease type II | STBD1 | 8987 | starch binding domain 1 | O95210 |
| C0017921 | Glycogen storage disease type II | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0017921 | Glycogen storage disease type II | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
