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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 |
|---|---|---|---|---|---|
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | ENO2 | 2026 | enolase 2 | P09104 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | CHGA | 1113 | chromogranin A | P10645 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3536893 | Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2350621 | Eumycetoma | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C1865349 | Ethylmalonic encephalopathy | ANXA5 | 308 | annexin A5 | P08758 |
| C1865349 | Ethylmalonic encephalopathy | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C1333472 | Ethmoid Sinus Adenocarcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0270736 | Essential Tremor | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0270736 | Essential Tremor | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0270736 | Essential Tremor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0270736 | Essential Tremor | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0270736 | Essential Tremor | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0270736 | Essential Tremor | STS | 412 | steroid sulfatase | P08842 |
| C0270736 | Essential Tremor | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
