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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 |
|---|---|---|---|---|---|
| C0013384 | Dyskinetic syndrome | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0013384 | Dyskinetic syndrome | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0013384 | Dyskinetic syndrome | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0013384 | Dyskinetic syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0013384 | Dyskinetic syndrome | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0013384 | Dyskinetic syndrome | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0013384 | Dyskinetic syndrome | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0013384 | Dyskinetic syndrome | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0013384 | Dyskinetic syndrome | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0013384 | Dyskinetic syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0013384 | Dyskinetic syndrome | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0013384 | Dyskinetic syndrome | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0013384 | Dyskinetic syndrome | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013384 | Dyskinetic syndrome | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013384 | Dyskinetic syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013384 | Dyskinetic syndrome | RENBP | 5973 | renin binding protein | P51606 |
| C0013384 | Dyskinetic syndrome | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0013384 | Dyskinetic syndrome | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013384 | Dyskinetic syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0265965 | Dyskeratosis Congenita | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0265965 | Dyskeratosis Congenita | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0234144 | Dysgraphia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346185 | Dysgerminoma of ovary | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0346185 | Dysgerminoma of ovary | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013377 | Dysgerminoma | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
