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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 |
|---|---|---|---|---|---|
| C0029456 | Osteoporosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0029456 | Osteoporosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0029456 | Osteoporosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0029455 | Osteopoikilosis (disorder) | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1956089 | Osteophyte | KL | 9365 | klotho | Q9UEF7 |
| C1956089 | Osteophyte | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C1956089 | Osteophyte | CD14 | 929 | CD14 molecule | P08571 |
| C1956089 | Osteophyte | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1956089 | Osteophyte | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1956089 | Osteophyte | ACLY | 47 | ATP citrate lyase | P53396 |
| C0029454 | Osteopetrosis | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0029454 | Osteopetrosis | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0029454 | Osteopetrosis | ARSA | 410 | arylsulfatase A | P15289 |
| C0029454 | Osteopetrosis | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0029454 | Osteopetrosis | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0029454 | Osteopetrosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0029454 | Osteopetrosis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| 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 |
