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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0496956 | Neoplasm of uncertain or unknown behavior of breast | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
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 |
C0496892 | Benign neoplasm of kidney | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
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 |
C0496836 | Malignant tumor of eye | FASN | 2194 | fatty acid synthase | P49327 |
C0496758 | Malignant neoplasm of lateral floor of mouth | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
C0495640 | Congenital malformation syndromes involving early overgrowth | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0494491 | Mononeuropathies | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
C0494475 | Tonic - clonic seizures | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
C0494475 | Tonic - clonic seizures | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
C0494475 | Tonic - clonic seizures | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
C0494475 | Tonic - clonic seizures | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C0494475 | Tonic - clonic seizures | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0494475 | Tonic - clonic seizures | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
C0494475 | Tonic - clonic seizures | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
C0494475 | Tonic - clonic seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
C0494475 | Tonic - clonic seizures | MANBA | 4126 | mannosidase beta | O00462 |
C0494475 | Tonic - clonic seizures | PSAP | 5660 | prosaposin | P07602 |
C0494475 | Tonic - clonic seizures | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
C0494475 | Tonic - clonic seizures | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
C0494475 | Tonic - clonic seizures | GYS1 | 2997 | glycogen synthase 1 | P13807 |
C0494475 | Tonic - clonic seizures | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
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Last updated: August 19, 2024