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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 |
|---|---|---|---|---|---|
| C0269102 | Endometrioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0269102 | Endometrioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0269102 | Endometrioma | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0269102 | Endometrioma | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0269106 | Endosalpingiosis | OVGP1 | 5016 | oviductal glycoprotein 1 | Q12889 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0270210 | Lucey-Driscoll syndrome (disorder) | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0270250 | Meconium peritonitis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0270549 | Generalized Anxiety Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0270549 | Generalized Anxiety Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0270549 | Generalized Anxiety Disorder | STS | 412 | steroid sulfatase | P08842 |
| C0270549 | Generalized Anxiety Disorder | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0270549 | Generalized Anxiety Disorder | CAT | 847 | catalase | P04040 |
| C0270549 | Generalized Anxiety Disorder | GCK | 2645 | glucokinase | P35557 |
| C0270549 | Generalized Anxiety Disorder | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0270549 | Generalized Anxiety Disorder | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0270549 | Generalized Anxiety Disorder | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0270549 | Generalized Anxiety Disorder | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
