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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 |
|---|---|---|---|---|---|
| C0020725 | Type II Mucolipidosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020725 | Type II Mucolipidosis | CALR | 811 | calreticulin | P27797 |
| C0020725 | Type II Mucolipidosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0020725 | Type II Mucolipidosis | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0020725 | Type II Mucolipidosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0041466 | Typhoid Fever | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0041466 | Typhoid Fever | CD38 | 952 | CD38 molecule | P28907 |
| C0268490 | Tyrosinemia, Type I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0268490 | Tyrosinemia, Type I | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268490 | Tyrosinemia, Type I | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0751161 | UDPglucose 4-epimerase deficiency disease | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1848638 | USHER SYNDROME, TYPE IB (disorder) | STS | 412 | steroid sulfatase | P08842 |
| C0151970 | Ulcer of esophagus | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0009324 | Ulcerative Colitis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0009324 | Ulcerative Colitis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0009324 | Ulcerative Colitis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0009324 | Ulcerative Colitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009324 | Ulcerative Colitis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0009324 | Ulcerative Colitis | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0009324 | Ulcerative Colitis | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0009324 | Ulcerative Colitis | GAL3ST2 | 64090 | galactose-3-O-sulfotransferase 2 | Q9H3Q3 |
| C0009324 | Ulcerative Colitis | ST6GALNAC1 | 55808 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 | Q9NSC7 |
