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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 | 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 |
| C1384666 | hearing impairment | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1384666 | hearing impairment | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1384666 | hearing impairment | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1384666 | hearing impairment | TECTA | 7007 | tectorin alpha | O75443 |
| C1384666 | hearing impairment | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1384666 | hearing impairment | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1384666 | hearing impairment | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C1384666 | hearing impairment | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C1384666 | hearing impairment | GCK | 2645 | glucokinase | P35557 |
| C1384666 | hearing impairment | GPC3 | 2719 | glypican 3 | P51654 |
| C1384666 | hearing impairment | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1384666 | hearing impairment | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1384666 | hearing impairment | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
