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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 |
|---|---|---|---|---|---|
| C0033680 | Protein-Losing Enteropathies | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0033680 | Protein-Losing Enteropathies | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033677 | Protein-Energy Malnutrition | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0033677 | Protein-Energy Malnutrition | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0242666 | Protein S Deficiency | GLA | 2717 | galactosidase alpha | P06280 |
| C0398625 | Protein C Deficiency | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0398625 | Protein C Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C3887980 | Protanomaly | CD74 | 972 | CD74 molecule | P04233 |
| C3887980 | Protanomaly | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0033578 | Prostatic Neoplasms | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0033578 | Prostatic Neoplasms | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0033578 | Prostatic Neoplasms | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0033578 | Prostatic Neoplasms | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0033578 | Prostatic Neoplasms | FUT5 | 2527 | fucosyltransferase 5 | Q11128 |
| C0033578 | Prostatic Neoplasms | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0033578 | Prostatic Neoplasms | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0033578 | Prostatic Neoplasms | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0033578 | Prostatic Neoplasms | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0033578 | Prostatic Neoplasms | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0033578 | Prostatic Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0033578 | Prostatic Neoplasms | PSAP | 5660 | prosaposin | P07602 |
| C0033578 | Prostatic Neoplasms | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0033578 | Prostatic Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0033578 | Prostatic Neoplasms | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0033578 | Prostatic Neoplasms | CHIT1 | 1118 | chitinase 1 | Q13231 |
