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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 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1384666 | hearing impairment | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1384666 | hearing impairment | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C1384666 | hearing impairment | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C1384666 | hearing impairment | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1384666 | hearing impairment | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1384666 | hearing impairment | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1384666 | hearing impairment | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C1384666 | hearing impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1384666 | hearing impairment | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1384666 | hearing impairment | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1384666 | hearing impairment | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C1384666 | hearing impairment | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1384666 | hearing impairment | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0018206 | granulosa cell tumor | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0018206 | granulosa cell tumor | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0018206 | granulosa cell tumor | CDH13 | 1012 | cadherin 13 | P55290 |
| C0018206 | granulosa cell tumor | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0018206 | granulosa cell tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018206 | granulosa cell tumor | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0206726 | gliosarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0206726 | gliosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0206726 | gliosarcoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0206726 | gliosarcoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0206726 | gliosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
