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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 |
|---|---|---|---|---|---|
| C0020758 | Congenital ichthyosis | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0020758 | Congenital ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0020758 | Congenital ichthyosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020758 | Congenital ichthyosis | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0020757 | Ichthyoses | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0020757 | Ichthyoses | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0020757 | Ichthyoses | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0020757 | Ichthyoses | ARSA | 410 | arylsulfatase A | P15289 |
| C0020757 | Ichthyoses | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020757 | Ichthyoses | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0020757 | Ichthyoses | AMY2B | 280 | amylase alpha 2B | P19961 |
| C0020757 | Ichthyoses | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020757 | Ichthyoses | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020757 | Ichthyoses | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0020757 | Ichthyoses | STS | 412 | steroid sulfatase | P08842 |
| C0020757 | Ichthyoses | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0020757 | Ichthyoses | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020757 | Ichthyoses | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0020757 | Ichthyoses | ELOVL3 | 83401 | ELOVL fatty acid elongase 3 | Q9HB03 |
| C0020757 | Ichthyoses | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0020757 | Ichthyoses | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0020757 | Ichthyoses | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0020757 | Ichthyoses | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0020757 | Ichthyoses | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020757 | Ichthyoses | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
