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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 |
|---|---|---|---|---|---|
| C0037354 | Smallpox | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0037354 | Smallpox | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0037354 | Smallpox | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0175694 | Smith-Lemli-Opitz Syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0175694 | Smith-Lemli-Opitz Syndrome | STS | 412 | steroid sulfatase | P08842 |
| C0175694 | Smith-Lemli-Opitz Syndrome | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0175694 | Smith-Lemli-Opitz Syndrome | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0175694 | Smith-Lemli-Opitz Syndrome | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0795864 | Smith-Magenis syndrome | STS | 412 | steroid sulfatase | P08842 |
| C0795864 | Smith-Magenis syndrome | NT5M | 56953 | 5',3'-nucleotidase, mitochondrial | Q9NPB1 |
| C0795864 | Smith-Magenis syndrome | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0037369 | Smoking | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0037369 | Smoking | HS6ST3 | 266722 | heparan sulfate 6-O-sulfotransferase 3 | Q8IZP7 |
| C0037369 | Smoking | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0037369 | Smoking | GALNTL6 | 442117 | polypeptide N-acetylgalactosaminyltransferase like 6 | Q49A17 |
| C0037369 | Smoking | MGAT4C | 25834 | MGAT4 family member C | Q9UBM8 |
| C0037369 | Smoking | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0037369 | Smoking | ACAN | 176 | aggrecan | P16112 |
| C0037369 | Smoking | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0037369 | Smoking | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0037369 | Smoking | NTM | 50863 | neurotrimin | Q9P121 |
| C0037369 | Smoking | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0037369 | Smoking | CACNA2D3 | 55799 | calcium voltage-gated channel auxiliary subunit alpha2delta 3 | Q8IZS8 |
| C0037369 | Smoking | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0037369 | Smoking | CDH13 | 1012 | cadherin 13 | P55290 |
