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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 |
|---|---|---|---|---|---|
| C0242383 | Age related macular degeneration | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0242383 | Age related macular degeneration | FMOD | 2331 | fibromodulin | Q06828 |
| C0242383 | Age related macular degeneration | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0242383 | Age related macular degeneration | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0242383 | Age related macular degeneration | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0242383 | Age related macular degeneration | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0242383 | Age related macular degeneration | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0242383 | Age related macular degeneration | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0242383 | Age related macular degeneration | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0242387 | Mandibulofacial Dysostosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0242387 | Mandibulofacial Dysostosis | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0242422 | Parkinsonian Disorders | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C0242422 | Parkinsonian Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0242422 | Parkinsonian Disorders | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0242422 | Parkinsonian Disorders | OGA | 10724 | O-GlcNAcase | O60502 |
| C0242422 | Parkinsonian Disorders | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0242422 | Parkinsonian Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0242422 | Parkinsonian Disorders | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0242422 | Parkinsonian Disorders | ENO2 | 2026 | enolase 2 | P09104 |
| C0242422 | Parkinsonian Disorders | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0242422 | Parkinsonian Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0242422 | Parkinsonian Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0242422 | Parkinsonian Disorders | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0242422 | Parkinsonian Disorders | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0242422 | Parkinsonian Disorders | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
