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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 |
|---|---|---|---|---|---|
| C1096184 | West Nile viral infection | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0949691 | Spondylarthropathies | ENO1 | 2023 | enolase 1 | P06733 |
| C0949691 | Spondylarthropathies | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0949691 | Spondylarthropathies | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0949691 | Spondylarthropathies | VCAN | 1462 | versican | P13611 |
| C0949691 | Spondylarthropathies | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0949691 | Spondylarthropathies | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0949691 | Spondylarthropathies | ACAN | 176 | aggrecan | P16112 |
| C0949691 | Spondylarthropathies | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0949691 | Spondylarthropathies | CD14 | 929 | CD14 molecule | P08571 |
| C0949691 | Spondylarthropathies | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0949691 | Spondylarthropathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0949690 | Spondylarthritis | ENO1 | 2023 | enolase 1 | P06733 |
| C0949690 | Spondylarthritis | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0949690 | Spondylarthritis | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0949690 | Spondylarthritis | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0949690 | Spondylarthritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0949690 | Spondylarthritis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0949690 | Spondylarthritis | CD14 | 929 | CD14 molecule | P08571 |
