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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 |
|---|---|---|---|---|---|
| C0494475 | Tonic - clonic seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0494475 | Tonic - clonic seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0494475 | Tonic - clonic seizures | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0494475 | Tonic - clonic seizures | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0494475 | Tonic - clonic seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0494475 | Tonic - clonic seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0494475 | Tonic - clonic seizures | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0494475 | Tonic - clonic seizures | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0494491 | Mononeuropathies | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0495640 | Congenital malformation syndromes involving early overgrowth | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0496758 | Malignant neoplasm of lateral floor of mouth | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0496836 | Malignant tumor of eye | FASN | 2194 | fatty acid synthase | P49327 |
| C0496870 | Benign neoplasm of liver | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0496870 | Benign neoplasm of liver | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0496892 | Benign neoplasm of kidney | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0496899 | Benign neoplasm of brain, unspecified | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0496899 | Benign neoplasm of brain, unspecified | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0496956 | Neoplasm of uncertain or unknown behavior of breast | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0497327 | Dementia | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0497327 | Dementia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0497327 | Dementia | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0497327 | Dementia | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
