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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 |
|---|---|---|---|---|---|
| C0013421 | Dystonia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013421 | Dystonia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0013421 | Dystonia | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0013421 | Dystonia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013421 | Dystonia | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0013421 | Dystonia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0013415 | Dysthymic Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1857100 | Dyssegmental dysplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0205748 | Dysplastic Nevus | LGALS1 | 3956 | galectin 1 | P09382 |
| C0205748 | Dysplastic Nevus | LGALS3 | 3958 | galectin 3 | P17931 |
| C0205748 | Dysplastic Nevus | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0205748 | Dysplastic Nevus | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0013395 | Dyspepsia | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0013395 | Dyspepsia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013395 | Dyspepsia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0013395 | Dyspepsia | CHGA | 1113 | chromogranin A | P10645 |
| C0013395 | Dyspepsia | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0013395 | Dyspepsia | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0013395 | Dyspepsia | CD14 | 929 | CD14 molecule | P08571 |
| C0013395 | Dyspepsia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0013395 | Dyspepsia | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0013395 | Dyspepsia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0013393 | Dysostoses | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0013393 | Dysostoses | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0476254 | Dyslexia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
