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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 |
|---|---|---|---|---|---|
| C0008497 | Choriocarcinoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0008497 | Choriocarcinoma | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0008497 | Choriocarcinoma | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0008497 | Choriocarcinoma | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C0008497 | Choriocarcinoma | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0008497 | Choriocarcinoma | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0008497 | Choriocarcinoma | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0008497 | Choriocarcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008497 | Choriocarcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008497 | Choriocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0008497 | Choriocarcinoma | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0008525 | Choroideremia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0008525 | Choroideremia | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0008533 | Hemophilia B | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008533 | Hemophilia B | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0008533 | Hemophilia B | DCXR | 51181 | dicarbonyl and L-xylulose reductase | Q7Z4W1 |
| 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 |
| C0008582 | Chromoblastomycosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0008677 | Bronchitis, Chronic | CHID1 | 66005 | chitinase domain containing 1 | Q9BWS9 |
| C0008677 | Bronchitis, Chronic | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008677 | Bronchitis, Chronic | SFTPD | 6441 | surfactant protein D | P35247 |
