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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 |
|---|---|---|---|---|---|
| C0009319 | Colitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0009319 | Colitis | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0009319 | Colitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009319 | Colitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0009319 | Colitis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0009207 | Cockayne Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009207 | Cockayne Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009207 | Cockayne Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0009207 | Cockayne Syndrome | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0009207 | Cockayne Syndrome | KL | 9365 | klotho | Q9UEF7 |
| C0009207 | Cockayne Syndrome | DCN | 1634 | decorin | P07585 |
| C0009207 | Cockayne Syndrome | CAT | 847 | catalase | P04040 |
| C0009186 | Coccidioidomycosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0009186 | Coccidioidomycosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009186 | Coccidioidomycosis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0009186 | Coccidioidomycosis | CD14 | 929 | CD14 molecule | P08571 |
| C0009186 | Coccidioidomycosis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0009171 | Cocaine Abuse | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009171 | Cocaine Abuse | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C0009171 | Cocaine Abuse | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0009171 | Cocaine Abuse | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0009171 | Cocaine Abuse | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0009171 | Cocaine Abuse | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0009171 | Cocaine Abuse | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0009090 | Cluttering | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
