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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 |
|---|---|---|---|---|---|
| C0020224 | Polyhydramnios | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020224 | Polyhydramnios | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0020224 | Polyhydramnios | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0020224 | Polyhydramnios | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020224 | Polyhydramnios | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0020217 | Hydatidiform Mole | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0020217 | Hydatidiform Mole | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0020217 | Hydatidiform Mole | VCAN | 1462 | versican | P13611 |
| C0020217 | Hydatidiform Mole | LGALS1 | 3956 | galectin 1 | P09382 |
| C0020217 | Hydatidiform Mole | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0020217 | Hydatidiform Mole | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020192 | Hyaline Membrane Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0020192 | Hyaline Membrane Disease | SFTPD | 6441 | surfactant protein D | P35247 |
| C0020192 | Hyaline Membrane Disease | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0020192 | Hyaline Membrane Disease | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0020192 | Hyaline Membrane Disease | SFTPC | 6440 | surfactant protein C | P11686 |
| C0020179 | Huntington Disease | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0020179 | Huntington Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0020179 | Huntington Disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0020179 | Huntington Disease | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020179 | Huntington Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0020179 | Huntington Disease | CS | 1431 | citrate synthase | O75390 |
| C0020179 | Huntington Disease | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0020179 | Huntington Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020179 | Huntington Disease | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
