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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 |
|---|---|---|---|---|---|
| C0028738 | Nystagmus | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0028738 | Nystagmus | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0028738 | Nystagmus | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0028738 | Nystagmus | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0028738 | Nystagmus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0028738 | Nystagmus | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0028738 | Nystagmus | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0028738 | Nystagmus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0028738 | Nystagmus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0028738 | Nystagmus | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0028738 | Nystagmus | ACO2 | 50 | aconitase 2 | Q99798 |
| C0028738 | Nystagmus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0028738 | Nystagmus | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0028738 | Nystagmus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0028738 | Nystagmus | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0028738 | Nystagmus | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0028738 | Nystagmus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0028738 | Nystagmus | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0028738 | Nystagmus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0028738 | Nystagmus | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0028738 | Nystagmus | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0028738 | Nystagmus | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0028738 | Nystagmus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0028738 | Nystagmus | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0028738 | Nystagmus | AGRN | 375790 | agrin | O00468 |
