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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 | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C1384666 | hearing impairment | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C1384666 | hearing impairment | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1384666 | hearing impairment | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1384666 | hearing impairment | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1384666 | hearing impairment | GALC | 2581 | galactosylceramidase | P54803 |
| C1384666 | hearing impairment | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C1384666 | hearing impairment | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1384666 | hearing impairment | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1384666 | hearing impairment | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1384666 | hearing impairment | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C1384666 | hearing impairment | GUSB | 2990 | glucuronidase beta | P08236 |
| C1384666 | hearing impairment | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| 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 |
