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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 |
|---|---|---|---|---|---|
| C0268398 | Familial lichen amyloidosis | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0268398 | Familial lichen amyloidosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0268398 | Familial lichen amyloidosis | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0268398 | Familial lichen amyloidosis | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0268398 | Familial lichen amyloidosis | PRNP | 5621 | prion protein | P04156 |
| C0268398 | Familial lichen amyloidosis | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0268398 | Familial lichen amyloidosis | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0268398 | Familial lichen amyloidosis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0268398 | Familial lichen amyloidosis | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0268398 | Familial lichen amyloidosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0268398 | Familial lichen amyloidosis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0268398 | Familial lichen amyloidosis | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0268398 | Familial lichen amyloidosis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0268398 | Familial lichen amyloidosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268398 | Familial lichen amyloidosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268398 | Familial lichen amyloidosis | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0268412 | Infantile hypophosphatasia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0268412 | Infantile hypophosphatasia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0268412 | Infantile hypophosphatasia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0268413 | Adult hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0268413 | Adult hypophosphatasia (disorder) | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0268413 | Adult hypophosphatasia (disorder) | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0268418 | Deficiency of glycerol kinase | GK | 2710 | glycerol kinase | P32189 |
| C0268419 | Acatalasia | CAT | 847 | catalase | P04040 |
| C0268419 | Acatalasia | TALDO1 | 6888 | transaldolase 1 | P37837 |
