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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0392662 | Angiostrongyliasis | LGALS2 | 3957 | galectin 2 | P05162 |
| C0392642 | Oropharyngeal tularemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| 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 |
| C0392553 | Hereditary peripheral neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0392525 | Nephrolithiasis | ENO1 | 2023 | enolase 1 | P06733 |
| C0392525 | Nephrolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0392525 | Nephrolithiasis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0392525 | Nephrolithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0392525 | Nephrolithiasis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0392525 | Nephrolithiasis | KL | 9365 | klotho | Q9UEF7 |
| C0392525 | Nephrolithiasis | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0392525 | Nephrolithiasis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0392525 | Nephrolithiasis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0392525 | Nephrolithiasis | DGKH | 160851 | diacylglycerol kinase eta | Q86XP1 |
| C0392525 | Nephrolithiasis | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
