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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 | 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 |
| C3150876 | COG5 congenital disorder of glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
