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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 |
|---|---|---|---|---|---|
| C0343640 | African Burkitt's lymphoma | PC | 5091 | pyruvate carboxylase | P11498 |
| C0041228 | African Trypanosomiasis | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0041228 | African Trypanosomiasis | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0041228 | African Trypanosomiasis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0041228 | African Trypanosomiasis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0041228 | African Trypanosomiasis | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0001768 | Agammaglobulinemia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0085758 | Aganglionosis, Colonic | FH | 2271 | fumarate hydratase | P07954 |
| C0242383 | Age related macular degeneration | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0242383 | Age related macular degeneration | FUT6 | 2528 | fucosyltransferase 6 | P51993 |
| C0242383 | Age related macular degeneration | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0242383 | Age related macular degeneration | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0242383 | Age related macular degeneration | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0242383 | Age related macular degeneration | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C0242383 | Age related macular degeneration | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0242383 | Age related macular degeneration | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C0242383 | Age related macular degeneration | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0242383 | Age related macular degeneration | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0242383 | Age related macular degeneration | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0242383 | Age related macular degeneration | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0242383 | Age related macular degeneration | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0242383 | Age related macular degeneration | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0242383 | Age related macular degeneration | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0242383 | Age related macular degeneration | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0242383 | Age related macular degeneration | UGT2B17 | 7367 | UDP glucuronosyltransferase family 2 member B17 | O75795 |
