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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 | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0007682 | CNS disorder | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0007682 | CNS disorder | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0007682 | CNS disorder | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0007682 | CNS disorder | ARSB | 411 | arylsulfatase B | P15848 |
| C0007682 | CNS disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0007682 | CNS disorder | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0007682 | CNS disorder | CD38 | 952 | CD38 molecule | P28907 |
| C0007682 | CNS disorder | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0007682 | CNS disorder | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0007682 | CNS disorder | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0007682 | CNS disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0007682 | CNS disorder | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0007682 | CNS disorder | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| 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 |
