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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 |
|---|---|---|---|---|---|
| C0206657 | Alveolar Soft Part Sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0206657 | Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0206655 | Alveolar rhabdomyosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206655 | Alveolar rhabdomyosarcoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0206655 | Alveolar rhabdomyosarcoma | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0206655 | Alveolar rhabdomyosarcoma | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0206655 | Alveolar rhabdomyosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0750901 | Alzheimer Disease, Early Onset | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0750901 | Alzheimer Disease, Early Onset | ENO1 | 2023 | enolase 1 | P06733 |
| C0750901 | Alzheimer Disease, Early Onset | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0750901 | Alzheimer Disease, Early Onset | GAPDHS | 26330 | glyceraldehyde-3-phosphate dehydrogenase, spermatogenic | O14556 |
| C0750901 | Alzheimer Disease, Early Onset | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0750901 | Alzheimer Disease, Early Onset | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0750901 | Alzheimer Disease, Early Onset | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0750901 | Alzheimer Disease, Early Onset | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0750901 | Alzheimer Disease, Early Onset | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0750901 | Alzheimer Disease, Early Onset | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0750901 | Alzheimer Disease, Early Onset | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0750901 | Alzheimer Disease, Early Onset | PRNP | 5621 | prion protein | P04156 |
| C0750901 | Alzheimer Disease, Early Onset | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0750901 | Alzheimer Disease, Early Onset | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0750901 | Alzheimer Disease, Early Onset | CD33 | 945 | CD33 molecule | P20138 |
| C0750901 | Alzheimer Disease, Early Onset | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0750901 | Alzheimer Disease, Early Onset | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
