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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 |
|---|---|---|---|---|---|
| C0029443 | Osteomyelitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0029443 | Osteomyelitis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029443 | Osteomyelitis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0029443 | Osteomyelitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0029442 | Osteomalacia | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0029442 | Osteomalacia | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C0029442 | Osteomalacia | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0029442 | Osteomalacia | RGN | 9104 | regucalcin | Q15493 |
| C0029442 | Osteomalacia | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0432283 | Osteoglophonic dwarfism | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0432283 | Osteoglophonic dwarfism | SPHK2 | 56848 | sphingosine kinase 2 | Q9NRA0 |
| C0432283 | Osteoglophonic dwarfism | CAT | 847 | catalase | P04040 |
| C0432283 | Osteoglophonic dwarfism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0432283 | Osteoglophonic dwarfism | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0432283 | Osteoglophonic dwarfism | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0432283 | Osteoglophonic dwarfism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0268362 | Osteogenesis imperfecta type III (disorder) | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C3279564 | Osteogenesis Imperfecta, Type VI | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0029434 | Osteogenesis Imperfecta | CD38 | 952 | CD38 molecule | P28907 |
| C0029434 | Osteogenesis Imperfecta | DCN | 1634 | decorin | P07585 |
| C0029434 | Osteogenesis Imperfecta | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0029434 | Osteogenesis Imperfecta | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0029434 | Osteogenesis Imperfecta | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0029434 | Osteogenesis Imperfecta | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
