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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 |
|---|---|---|---|---|---|
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | CAT | 847 | catalase | P04040 |
| C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3553571 | Carbohydrate deficient glycoprotein syndrome type 2k | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0007097 | Carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0007097 | Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0007097 | Carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0007097 | Carcinoma | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0007097 | Carcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0007097 | Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0007097 | Carcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0007097 | Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0007097 | Carcinoma | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0007097 | Carcinoma | GCNT1 | 2650 | glucosaminyl (N-acetyl) transferase 1 | Q02742 |
| C0007097 | Carcinoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0007097 | Carcinoma | FUT6 | 2528 | fucosyltransferase 6 | P51993 |
| C0007097 | Carcinoma | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0007097 | Carcinoma | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0007097 | Carcinoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0007097 | Carcinoma | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0007097 | Carcinoma | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0007097 | Carcinoma | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0007097 | Carcinoma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0007097 | Carcinoma | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0007097 | Carcinoma | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0007097 | Carcinoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
