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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 |
|---|---|---|---|---|---|
| C0751495 | Seizures, Focal | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0751495 | Seizures, Focal | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0751495 | Seizures, Focal | CAT | 847 | catalase | P04040 |
| C0751495 | Seizures, Focal | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0751495 | Seizures, Focal | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0751495 | Seizures, Focal | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0751495 | Seizures, Focal | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751495 | Seizures, Focal | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751495 | Seizures, Focal | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0751495 | Seizures, Focal | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751495 | Seizures, Focal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751495 | Seizures, Focal | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0751529 | Stuttering, Developmental | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0751560 | Malignant neoplasm tonsil | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0751560 | Malignant neoplasm tonsil | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0751560 | Malignant neoplasm tonsil | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0751560 | Malignant neoplasm tonsil | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0751560 | Malignant neoplasm tonsil | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751560 | Malignant neoplasm tonsil | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751571 | Cancer of Urinary Tract | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0751571 | Cancer of Urinary Tract | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751571 | Cancer of Urinary Tract | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0751571 | Cancer of Urinary Tract | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751571 | Cancer of Urinary Tract | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
