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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 |
|---|---|---|---|---|---|
| C0017601 | Glaucoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0017601 | Glaucoma | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0017601 | Glaucoma | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0017601 | Glaucoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0017601 | Glaucoma | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0017601 | Glaucoma | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0017601 | Glaucoma | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0017601 | Glaucoma | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0017601 | Glaucoma | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0017601 | Glaucoma | GLA | 2717 | galactosidase alpha | P06280 |
| C0017601 | Glaucoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0017601 | Glaucoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0017601 | Glaucoma | ARSB | 411 | arylsulfatase B | P15848 |
| C0017601 | Glaucoma | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0017601 | Glaucoma | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0017601 | Glaucoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0017601 | Glaucoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0017601 | Glaucoma | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0017601 | Glaucoma | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0017601 | Glaucoma | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0017601 | Glaucoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017601 | Glaucoma | LGALS9 | 3965 | galectin 9 | O00182 |
| C0017601 | Glaucoma | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0017601 | Glaucoma | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0017601 | Glaucoma | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
