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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 |
|---|---|---|---|---|---|
| C0751882 | Myasthenic Syndromes, Congenital | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751882 | Myasthenic Syndromes, Congenital | AGRN | 375790 | agrin | O00468 |
| C0751882 | Myasthenic Syndromes, Congenital | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751882 | Myasthenic Syndromes, Congenital | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | AGRN | 375790 | agrin | O00468 |
| C0024449 | Mycetoma | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0024449 | Mycetoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0024449 | Mycetoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0026918 | Mycobacterium Infections | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0026918 | Mycobacterium Infections | CLEC9A | 283420 | C-type lectin domain containing 9A | Q6UXN8 |
| C0026918 | Mycobacterium Infections | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0026918 | Mycobacterium Infections | LGALS3 | 3958 | galectin 3 | P17931 |
| C0026918 | Mycobacterium Infections | STS | 412 | steroid sulfatase | P08842 |
| C0026918 | Mycobacterium Infections | LTA4H | 4048 | leukotriene A4 hydrolase | P09960 |
| C0026918 | Mycobacterium Infections | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0026918 | Mycobacterium Infections | NTM | 50863 | neurotrimin | Q9P121 |
| C0026918 | Mycobacterium Infections | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0026918 | Mycobacterium Infections | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0026918 | Mycobacterium Infections | SFTPD | 6441 | surfactant protein D | P35247 |
| C0026918 | Mycobacterium Infections | SMPD2 | 6610 | sphingomyelin phosphodiesterase 2 | O60906 |
| C0026918 | Mycobacterium Infections | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
