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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 | 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 |
| C1384666 | hearing impairment | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C1384666 | hearing impairment | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C1384666 | hearing impairment | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1384666 | hearing impairment | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C1384666 | hearing impairment | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1384666 | hearing impairment | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1384666 | hearing impairment | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1384666 | hearing impairment | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C1384666 | hearing impairment | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C1384666 | hearing impairment | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1384666 | hearing impairment | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1384666 | hearing impairment | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
