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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 |
|---|---|---|---|---|---|
| C0018023 | Nodular Goiter | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C0018023 | Nodular Goiter | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0018051 | Gonadal Dysgenesis | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0018051 | Gonadal Dysgenesis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0018051 | Gonadal Dysgenesis | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0018051 | Gonadal Dysgenesis | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0018055 | Gonadal Dysgenesis, Mixed | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0018081 | Gonorrhea | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0018081 | Gonorrhea | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0018081 | Gonorrhea | SDC1 | 6382 | syndecan 1 | P18827 |
| C0018081 | Gonorrhea | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0018081 | Gonorrhea | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0018081 | Gonorrhea | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0018081 | Gonorrhea | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0018081 | Gonorrhea | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0018081 | Gonorrhea | CAT | 847 | catalase | P04040 |
| C0018081 | Gonorrhea | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0018081 | Gonorrhea | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018081 | Gonorrhea | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0018081 | Gonorrhea | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0018081 | Gonorrhea | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018099 | Gout | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0018099 | Gout | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
| C0018099 | Gout | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0018099 | Gout | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
