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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0036572 | Seizures | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0036572 | Seizures | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0036572 | Seizures | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0036572 | Seizures | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0036572 | Seizures | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0036572 | Seizures | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0036572 | Seizures | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0036572 | Seizures | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0036572 | Seizures | CD38 | 952 | CD38 molecule | P28907 |
| C0036572 | Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0036572 | Seizures | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0036572 | Seizures | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0036572 | Seizures | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0036572 | Seizures | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0036572 | Seizures | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0036572 | Seizures | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0036572 | Seizures | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0036572 | Seizures | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C0036572 | Seizures | FH | 2271 | fumarate hydratase | P07954 |
| C0036572 | Seizures | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0036572 | Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0036572 | Seizures | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0036572 | Seizures | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0036572 | Seizures | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
