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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 |
|---|---|---|---|---|---|
| C0854723 | Retinal Dystrophies | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C0854723 | Retinal Dystrophies | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0854723 | Retinal Dystrophies | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0854723 | Retinal Dystrophies | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0854723 | Retinal Dystrophies | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0854723 | Retinal Dystrophies | ACO2 | 50 | aconitase 2 | Q99798 |
| C0854723 | Retinal Dystrophies | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0854723 | Retinal Dystrophies | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0854723 | Retinal Dystrophies | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0854723 | Retinal Dystrophies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0854723 | Retinal Dystrophies | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0854723 | Retinal Dystrophies | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0854723 | Retinal Dystrophies | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0854723 | Retinal Dystrophies | ADH7 | 131 | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | P40394 |
| C0854723 | Retinal Dystrophies | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0854723 | Retinal Dystrophies | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0854723 | Retinal Dystrophies | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0854795 | Resectable Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0854912 | Pineal germinoma | CALR | 811 | calreticulin | P27797 |
| C0854917 | Rhabdoid Tumor of the Kidney | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0854917 | Rhabdoid Tumor of the Kidney | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0854917 | Rhabdoid Tumor of the Kidney | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0854917 | Rhabdoid Tumor of the Kidney | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0854917 | Rhabdoid Tumor of the Kidney | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0854917 | Rhabdoid Tumor of the Kidney | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
