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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 |
|---|---|---|---|---|---|
| C0268542 | Ornithine carbamoyltransferase deficiency | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0268542 | Ornithine carbamoyltransferase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0265329 | Organoid Nevus Phakomatosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0154676 | Organic writer's cramp | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0029191 | Orchitis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0006849 | Oral candidiasis | PSAP | 5660 | prosaposin | P07602 |
| C0006849 | Oral candidiasis | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0006849 | Oral candidiasis | LYZ | 4069 | lysozyme | P61626 |
| C0006849 | Oral candidiasis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0006849 | Oral candidiasis | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0006849 | Oral candidiasis | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0006849 | Oral candidiasis | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0149745 | Oral Ulcer | ENO1 | 2023 | enolase 1 | P06733 |
| C0149745 | Oral Ulcer | LYZ | 4069 | lysozyme | P61626 |
| C0149745 | Oral Ulcer | GTDC1 | 79712 | glycosyltransferase like domain containing 1 | Q4AE62 |
| C0149745 | Oral Ulcer | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0149745 | Oral Ulcer | LGALS1 | 3956 | galectin 1 | P09382 |
| C0149745 | Oral Ulcer | CAT | 847 | catalase | P04040 |
| C0149745 | Oral Ulcer | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0029172 | Oral Submucous Fibrosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0029172 | Oral Submucous Fibrosis | ENO1 | 2023 | enolase 1 | P06733 |
| C0029172 | Oral Submucous Fibrosis | CALR | 811 | calreticulin | P27797 |
| C0029172 | Oral Submucous Fibrosis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0029172 | Oral Submucous Fibrosis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0029172 | Oral Submucous Fibrosis | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
