Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 | 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 |
| C0456909 | Blindness | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0456909 | Blindness | FASN | 2194 | fatty acid synthase | P49327 |
| C0456909 | Blindness | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0456909 | Blindness | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0456909 | Blindness | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0456909 | Blindness | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0452138 | Sensorineural hearing loss, bilateral | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
