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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 |
|---|---|---|---|---|---|
| C0037369 | Smoking | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0037369 | Smoking | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0037369 | Smoking | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0037369 | Smoking | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0037369 | Smoking | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0037369 | Smoking | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0037369 | Smoking | BDH1 | 622 | 3-hydroxybutyrate dehydrogenase 1 | Q02338 |
| 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 |
| 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 |
| C0037354 | Smallpox | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| 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 |
| C0238196 | Small intestine carcinoma | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0238196 | Small intestine carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0238196 | Small intestine carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0235991 | Small for gestational age (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0235991 | Small for gestational age (disorder) | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0235991 | Small for gestational age (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
