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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 |
|---|---|---|---|---|---|
| C0010038 | Corneal Opacity | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0010038 | Corneal Opacity | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0010038 | Corneal Opacity | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0085109 | Corneal Neovascularization | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0085109 | Corneal Neovascularization | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0085109 | Corneal Neovascularization | DCN | 1634 | decorin | P07585 |
| C0085109 | Corneal Neovascularization | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0085109 | Corneal Neovascularization | LGALS3 | 3958 | galectin 3 | P17931 |
| C0085109 | Corneal Neovascularization | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0085109 | Corneal Neovascularization | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0339277 | Corneal Dystrophy, Juvenile Epithelial of Meesmann | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0339277 | Corneal Dystrophy, Juvenile Epithelial of Meesmann | CAT | 847 | catalase | P04040 |
| C1864738 | Corneal Dystrophy, Congenital Stromal | DCN | 1634 | decorin | P07585 |
| C0010034 | Corneal Diseases | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0002875 | Cooley's anemia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0002875 | Cooley's anemia | OGA | 10724 | O-GlcNAcase | O60502 |
| C0002875 | Cooley's anemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0002875 | Cooley's anemia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0002875 | Cooley's anemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0002875 | Cooley's anemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0002875 | Cooley's anemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002875 | Cooley's anemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0002875 | Cooley's anemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0002875 | Cooley's anemia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0002875 | Cooley's anemia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
