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 |
---|---|---|---|---|---|
C0426970 | Spastic Quadriplegia | ARSA | 410 | arylsulfatase A | P15289 |
C0426970 | Spastic Quadriplegia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
C0426970 | Spastic Quadriplegia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
C0426970 | Spastic Quadriplegia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
C0426970 | Spastic Quadriplegia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
C0426970 | Spastic Quadriplegia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C0426970 | Spastic Quadriplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
C0426970 | Spastic Quadriplegia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
C0426970 | Spastic Quadriplegia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
C0426970 | Spastic Quadriplegia | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
C0427055 | Facial Paresis | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0427480 | Elliptocytosis found | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
C0428791 | Aortic valve calcification | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
C0428791 | Aortic valve calcification | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0428791 | Aortic valve calcification | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
C0428791 | Aortic valve calcification | STS | 412 | steroid sulfatase | P08842 |
C0428791 | Aortic valve calcification | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0428908 | Sinus Node Dysfunction (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
C0428908 | Sinus Node Dysfunction (disorder) | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C0428908 | Sinus Node Dysfunction (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
C0431108 | Anaplastic Oligoastrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0431108 | Anaplastic Oligoastrocytoma | STS | 412 | steroid sulfatase | P08842 |
C0431108 | Anaplastic Oligoastrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
C0431121 | Clear Cell Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
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Last updated: August 19, 2024