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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 |
|---|---|---|---|---|---|
| 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 |
| C0018609 | Hartnup Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0018572 | Hand, Foot and Mouth Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0018553 | Hamartoma Syndrome, Multiple | SDC1 | 6382 | syndecan 1 | P18827 |
| C0018553 | Hamartoma Syndrome, Multiple | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0018553 | Hamartoma Syndrome, Multiple | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0018553 | Hamartoma Syndrome, Multiple | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0018553 | Hamartoma Syndrome, Multiple | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0018553 | Hamartoma Syndrome, Multiple | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0018553 | Hamartoma Syndrome, Multiple | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0018553 | Hamartoma Syndrome, Multiple | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0018553 | Hamartoma Syndrome, Multiple | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0018553 | Hamartoma Syndrome, Multiple | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| 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 |
