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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 |
|---|---|---|---|---|---|
| C1384666 | hearing impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C1384666 | hearing impairment | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C1384666 | hearing impairment | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1384666 | hearing impairment | MANBA | 4126 | mannosidase beta | O00462 |
| C1384666 | hearing impairment | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C1384666 | hearing impairment | ARSB | 411 | arylsulfatase B | P15848 |
| C1384666 | hearing impairment | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1384666 | hearing impairment | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1384666 | hearing impairment | CTSA | 5476 | cathepsin A | P10619 |
| C1384666 | hearing impairment | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C1384666 | hearing impairment | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C1384666 | hearing impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1384666 | hearing impairment | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C1384666 | hearing impairment | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1384666 | hearing impairment | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1384666 | hearing impairment | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1384666 | hearing impairment | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1384666 | hearing impairment | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1384666 | hearing impairment | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1384666 | hearing impairment | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C1384666 | hearing impairment | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1384666 | hearing impairment | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C1384666 | hearing impairment | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1384666 | hearing impairment | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1384666 | hearing impairment | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
