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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0029124 | Optic Atrophy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0029124 | Optic Atrophy | VCAN | 1462 | versican | P13611 |
| C0029124 | Optic Atrophy | FH | 2271 | fumarate hydratase | P07954 |
| C0029124 | Optic Atrophy | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0029124 | Optic Atrophy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0029124 | Optic Atrophy | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0029124 | Optic Atrophy | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0029124 | Optic Atrophy | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0029124 | Optic Atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0029124 | Optic Atrophy | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0029124 | Optic Atrophy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0029124 | Optic Atrophy | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0029124 | Optic Atrophy | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0029124 | Optic Atrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0029124 | Optic Atrophy | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0029124 | Optic Atrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0029124 | Optic Atrophy | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0029124 | Optic Atrophy | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0029124 | Optic Atrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0029124 | Optic Atrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0029124 | Optic Atrophy | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0029124 | Optic Atrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0029124 | Optic Atrophy | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0029124 | Optic Atrophy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
