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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 |
|---|---|---|---|---|---|
| C0339510 | Vitelliform Macular Dystrophy | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0339510 | Vitelliform Macular Dystrophy | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C0339510 | Vitelliform Macular Dystrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0339510 | Vitelliform Macular Dystrophy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0339510 | Vitelliform Macular Dystrophy | RGN | 9104 | regucalcin | Q15493 |
| C0339527 | Leber Congenital Amaurosis | ENO2 | 2026 | enolase 2 | P09104 |
| C0339527 | Leber Congenital Amaurosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0339527 | Leber Congenital Amaurosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0339527 | Leber Congenital Amaurosis | LPCAT1 | 79888 | lysophosphatidylcholine acyltransferase 1 | Q8NF37 |
| C0339527 | Leber Congenital Amaurosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0339527 | Leber Congenital Amaurosis | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0339527 | Leber Congenital Amaurosis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0339535 | Night blindness, congenital stationary | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0339537 | Cone monochromatism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0339543 | Epiretinal Membrane | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0339543 | Epiretinal Membrane | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C0339543 | Epiretinal Membrane | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0339543 | Epiretinal Membrane | LGALS1 | 3956 | galectin 1 | P09382 |
| C0339543 | Epiretinal Membrane | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0339543 | Epiretinal Membrane | CAT | 847 | catalase | P04040 |
| C0339543 | Epiretinal Membrane | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0339543 | Epiretinal Membrane | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0339543 | Epiretinal Membrane | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0339543 | Epiretinal Membrane | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0339573 | Glaucoma, Primary Open Angle | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
