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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 |
|---|---|---|---|---|---|
| C0009171 | Cocaine Abuse | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| 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 |
| 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 |
| C0009319 | Colitis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009319 | Colitis | CHST4 | 10164 | carbohydrate sulfotransferase 4 | Q8NCG5 |
| C0009319 | Colitis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0009319 | Colitis | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0009319 | Colitis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0009319 | Colitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0009319 | Colitis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0009319 | Colitis | PSAP | 5660 | prosaposin | P07602 |
| C0009319 | Colitis | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0009319 | Colitis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0009319 | Colitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0009319 | Colitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
