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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 |
|---|---|---|---|---|---|
| C0017075 | Ganglioneuroma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0016978 | gallbladder neoplasm | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0016978 | gallbladder neoplasm | ARSA | 410 | arylsulfatase A | P15289 |
| C0016978 | gallbladder neoplasm | PSAP | 5660 | prosaposin | P07602 |
| C0016978 | gallbladder neoplasm | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0016978 | gallbladder neoplasm | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0016978 | gallbladder neoplasm | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0016978 | gallbladder neoplasm | CDH13 | 1012 | cadherin 13 | P55290 |
| C0016978 | gallbladder neoplasm | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0016977 | Gall Bladder Diseases | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0016977 | Gall Bladder Diseases | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0016977 | Gall Bladder Diseases | GPC3 | 2719 | glypican 3 | P51654 |
| C0016977 | Gall Bladder Diseases | GP2 | 2813 | glycoprotein 2 | P55259 |
| C0016977 | Gall Bladder Diseases | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0016952 | Galactosemias | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0016952 | Galactosemias | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0016952 | Galactosemias | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0016952 | Galactosemias | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0016952 | Galactosemias | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0016952 | Galactosemias | LGALS1 | 3956 | galectin 1 | P09382 |
| C0016952 | Galactosemias | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0016952 | Galactosemias | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0016952 | Galactosemias | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0016952 | Galactosemias | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0016952 | Galactosemias | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
