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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 |
|---|---|---|---|---|---|
| C0750927 | Apraxia, Developmental Verbal | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0750927 | Apraxia, Developmental Verbal | FASN | 2194 | fatty acid synthase | P49327 |
| 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 |
| 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 |
| C0750887 | Adrenal Cancer | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0750887 | Adrenal Cancer | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0750887 | Adrenal Cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
