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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 |
|---|---|---|---|---|---|
| C3665347 | Visual Impairment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3665347 | Visual Impairment | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C3665347 | Visual Impairment | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3665347 | Visual Impairment | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C3665347 | Visual Impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3665347 | Visual Impairment | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3665347 | Visual Impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C3665347 | Visual Impairment | HK1 | 3098 | hexokinase 1 | P19367 |
| C3665347 | Visual Impairment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3665347 | Visual Impairment | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3665347 | Visual Impairment | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3665347 | Visual Impairment | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C3665347 | Visual Impairment | VCAN | 1462 | versican | P13611 |
| C3665347 | Visual Impairment | FH | 2271 | fumarate hydratase | P07954 |
| C3665347 | Visual Impairment | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C3665347 | Visual Impairment | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C3665347 | Visual Impairment | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C3665347 | Visual Impairment | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C3665347 | Visual Impairment | PRNP | 5621 | prion protein | P04156 |
| C3665347 | Visual Impairment | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C3665347 | Visual Impairment | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3665347 | Visual Impairment | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3665347 | Visual Impairment | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3665347 | Visual Impairment | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C3665347 | Visual Impairment | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
