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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 |
|---|---|---|---|---|---|
| C0008533 | Hemophilia B | CD38 | 952 | CD38 molecule | P28907 |
| C0008533 | Hemophilia B | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0008533 | Hemophilia B | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0008533 | Hemophilia B | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0008533 | Hemophilia B | AMT | 275 | aminomethyltransferase | P48728 |
| C0008525 | Choroideremia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0008525 | Choroideremia | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0008497 | Choriocarcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0008497 | Choriocarcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0008497 | Choriocarcinoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0008497 | Choriocarcinoma | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0008497 | Choriocarcinoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0008497 | Choriocarcinoma | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0008497 | Choriocarcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0008497 | Choriocarcinoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0008497 | Choriocarcinoma | VCAN | 1462 | versican | P13611 |
| C0008497 | Choriocarcinoma | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0008497 | Choriocarcinoma | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0008497 | Choriocarcinoma | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0008497 | Choriocarcinoma | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0008497 | Choriocarcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0008497 | Choriocarcinoma | ANXA5 | 308 | annexin A5 | P08758 |
| C0008497 | Choriocarcinoma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0008497 | Choriocarcinoma | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0008497 | Choriocarcinoma | KLRC1 | 3821 | killer cell lectin like receptor C1 | P26715 |
