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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 |
|---|---|---|---|---|---|
| C0018553 | Hamartoma Syndrome, Multiple | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0018553 | Hamartoma Syndrome, Multiple | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018553 | Hamartoma Syndrome, Multiple | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0018553 | Hamartoma Syndrome, Multiple | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0018553 | Hamartoma Syndrome, Multiple | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0018553 | Hamartoma Syndrome, Multiple | ARSD | 414 | arylsulfatase D | P51689 |
| C0018553 | Hamartoma Syndrome, Multiple | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0018553 | Hamartoma Syndrome, Multiple | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0018553 | Hamartoma Syndrome, Multiple | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018553 | Hamartoma Syndrome, Multiple | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0018572 | Hand, Foot and Mouth Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0018609 | Hartnup Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0018621 | Hay fever | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018621 | Hay fever | LYZ | 4069 | lysozyme | P61626 |
| C0018621 | Hay fever | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0018621 | Hay fever | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0018621 | Hay fever | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0018621 | Hay fever | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0018621 | Hay fever | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0018621 | Hay fever | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0018621 | Hay fever | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0018621 | Hay fever | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0018671 | Head and Neck Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
| C0018671 | Head and Neck Neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0018671 | Head and Neck Neoplasms | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
