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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 |
|---|---|---|---|---|---|
| C0011127 | Pressure Ulcer | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0011127 | Pressure Ulcer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0033117 | Priapism | GLA | 2717 | galactosidase alpha | P06280 |
| C0033117 | Priapism | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0033117 | Priapism | KL | 9365 | klotho | Q9UEF7 |
| C0300934 | Primary Amebic Meningoencephalitis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C4551720 | Primary Ciliary Dyskinesia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C4551720 | Primary Ciliary Dyskinesia | SDC1 | 6382 | syndecan 1 | P18827 |
| C4551720 | Primary Ciliary Dyskinesia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C4551720 | Primary Ciliary Dyskinesia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C4551720 | Primary Ciliary Dyskinesia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C4551720 | Primary Ciliary Dyskinesia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4551720 | Primary Ciliary Dyskinesia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C4551720 | Primary Ciliary Dyskinesia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C4551720 | Primary Ciliary Dyskinesia | NTM | 50863 | neurotrimin | Q9P121 |
| C4551720 | Primary Ciliary Dyskinesia | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C4551720 | Primary Ciliary Dyskinesia | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C4551720 | Primary Ciliary Dyskinesia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C4551720 | Primary Ciliary Dyskinesia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0014805 | Primary Erythermalgia | GLA | 2717 | galactosidase alpha | P06280 |
| C0020501 | Primary Hyperoxaluria | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020501 | Primary Hyperoxaluria | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0020501 | Primary Hyperoxaluria | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0020501 | Primary Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020501 | Primary Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
