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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 |
|---|---|---|---|---|---|
| C0007682 | CNS disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0007682 | CNS disorder | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0007682 | CNS disorder | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007682 | CNS disorder | PRNP | 5621 | prion protein | P04156 |
| C0007682 | CNS disorder | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0007682 | CNS disorder | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0007682 | CNS disorder | CH25H | 9023 | cholesterol 25-hydroxylase | O95992 |
| C0007682 | CNS disorder | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0007682 | CNS disorder | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0007682 | CNS disorder | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0007682 | CNS disorder | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0007682 | CNS disorder | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0007682 | CNS disorder | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0007682 | CNS disorder | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0007682 | CNS disorder | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0007682 | CNS disorder | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0007682 | CNS disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C0007682 | CNS disorder | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1844830 | CLEFT PALATE, X-LINKED | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1844830 | CLEFT PALATE, X-LINKED | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1853942 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1853942 | CITRULLINEMIA, TYPE II, NEONATAL-ONSET | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | AMT | 275 | aminomethyltransferase | P48728 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | GLDC | 2731 | glycine decarboxylase | P23378 |
