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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 |
|---|---|---|---|---|---|
| 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 |
| C0750901 | Alzheimer Disease, Early Onset | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0750901 | Alzheimer Disease, Early Onset | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0750901 | Alzheimer Disease, Early Onset | PRNP | 5621 | prion protein | F7VJQ1 |
| C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| 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 |
| C0206657 | Alveolar Soft Part Sarcoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0206657 | Alveolar Soft Part Sarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0206657 | Alveolar Soft Part Sarcoma | TMED6 | 146456 | transmembrane p24 trafficking protein 6 | Q8WW62 |
| C0152205 | Alternating esotropia | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1567741 | Alport Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1567741 | Alport Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1567741 | Alport Syndrome | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1567741 | Alport Syndrome | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C2936332 | Alpha-Sarcoglycanopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
