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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 |
|---|---|---|---|---|---|
| C0268362 | Osteogenesis imperfecta type III (disorder) | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| 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 |
| 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 |
| C0029443 | Osteomyelitis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0029443 | Osteomyelitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0029443 | Osteomyelitis | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0029443 | Osteomyelitis | MBD4 | 8930 | methyl-CpG binding domain 4, DNA glycosylase | O95243 |
| C0029443 | Osteomyelitis | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0029443 | Osteomyelitis | LCT | 3938 | lactase | P09848 |
| C0029443 | Osteomyelitis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C0029443 | Osteomyelitis | LPIN2 | 9663 | lipin 2 | Q92539 |
| 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 |
