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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 |
|---|---|---|---|---|---|
| C0456909 | Blindness | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0456909 | Blindness | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0456909 | Blindness | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0456909 | Blindness | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0456909 | Blindness | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0456909 | Blindness | GALC | 2581 | galactosylceramidase | P54803 |
| C0456909 | Blindness | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0456909 | Blindness | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0456909 | Blindness | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0456909 | Blindness | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0456909 | Blindness | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0456909 | Blindness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0456909 | Blindness | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0456909 | Blindness | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0456909 | Blindness | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0456909 | Blindness | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0456909 | Blindness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0456909 | Blindness | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0456909 | Blindness | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0456909 | Blindness | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0456909 | Blindness | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0456909 | Blindness | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0456909 | Blindness | IDH3A | 3419 | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | P50213 |
| C0456909 | Blindness | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0456909 | Blindness | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
