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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 |
|---|---|---|---|---|---|
| C2931822 | Nasopharyngeal carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2931822 | Nasopharyngeal carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2931822 | Nasopharyngeal carcinoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C2931822 | Nasopharyngeal carcinoma | TKT | 7086 | transketolase | P29401 |
| C2931822 | Nasopharyngeal carcinoma | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C2931822 | Nasopharyngeal carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C2931822 | Nasopharyngeal carcinoma | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C2931826 | Potassium aggravated myotonia | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C2931826 | Potassium aggravated myotonia | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C2931826 | Potassium aggravated myotonia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2931826 | Potassium aggravated myotonia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2931826 | Potassium aggravated myotonia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C2931826 | Potassium aggravated myotonia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931826 | Potassium aggravated myotonia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2931826 | Potassium aggravated myotonia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2931832 | Hyperinsulinemic hypoglycemia, familial, 1 | GCK | 2645 | glucokinase | P35557 |
| C2931833 | Hyperinsulinemic hypoglycemia, familial, 2 | GCK | 2645 | glucokinase | P35557 |
| C2931835 | Hyperprolinemia type 2 | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C2931838 | Familial HDL deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C2931838 | Familial HDL deficiency | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C2931838 | Familial HDL deficiency | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C2931840 | Aspartylglucosamidase (AGA) deficiency | AGA | 175 | aspartylglucosaminidase | P20933 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
