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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 |
|---|---|---|---|---|---|
| C0234533 | Generalized seizures | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0234533 | Generalized seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0234533 | Generalized seizures | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0234533 | Generalized seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0234533 | Generalized seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0234533 | Generalized seizures | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0234533 | Generalized seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0234533 | Generalized seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0234533 | Generalized seizures | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0234533 | Generalized seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0234533 | Generalized seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0234533 | Generalized seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0234533 | Generalized seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0234535 | Clonic Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0234535 | Clonic Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0234535 | Clonic Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0234535 | Clonic Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0234535 | Clonic Seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0234535 | Clonic Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0234535 | Clonic Seizures | CAT | 847 | catalase | P04040 |
| C0234535 | Clonic Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0234535 | Clonic Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0234535 | Clonic Seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0234535 | Clonic Seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0234535 | Clonic Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
