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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 |
|---|---|---|---|---|---|
| C0877046 | Tooth Infection | LGALS3 | 3958 | galectin 3 | P17931 |
| C0877024 | Schimke immunoosseous dysplasia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0877024 | Schimke immunoosseous dysplasia | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0877024 | Schimke immunoosseous dysplasia | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0877024 | Schimke immunoosseous dysplasia | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0872218 | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0870082 | Hyperkeratosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0870082 | Hyperkeratosis | GLA | 2717 | galactosidase alpha | P06280 |
| C0870082 | Hyperkeratosis | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0870082 | Hyperkeratosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0870082 | Hyperkeratosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0870082 | Hyperkeratosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0870082 | Hyperkeratosis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0870082 | Hyperkeratosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0870082 | Hyperkeratosis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0870082 | Hyperkeratosis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0870082 | Hyperkeratosis | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C0870082 | Hyperkeratosis | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0870082 | Hyperkeratosis | STS | 412 | steroid sulfatase | P08842 |
| C0870082 | Hyperkeratosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0870082 | Hyperkeratosis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0870082 | Hyperkeratosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0870082 | Hyperkeratosis | CAT | 847 | catalase | P04040 |
| C0870082 | Hyperkeratosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0870082 | Hyperkeratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
