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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 |
|---|---|---|---|---|---|
| C0392525 | Nephrolithiasis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0392525 | Nephrolithiasis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0392525 | Nephrolithiasis | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0392525 | Nephrolithiasis | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0392553 | Hereditary peripheral neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0392607 | Severe combined immunodeficiency due to adenosine deaminase deficiency | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0392642 | Oropharyngeal tularemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0392662 | Angiostrongyliasis | LGALS2 | 3957 | galectin 2 | P05162 |
| C0392784 | Dermatofibrosarcoma Protuberans | CD38 | 952 | CD38 molecule | P28907 |
| C0392784 | Dermatofibrosarcoma Protuberans | VCAN | 1462 | versican | P13611 |
| C0392784 | Dermatofibrosarcoma Protuberans | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0393484 | Rasmussen Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0393524 | Cerebellar Ataxia, Late Onset | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | P04156 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
