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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 |
|---|---|---|---|---|---|
| C0020550 | Hyperthyroidism | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0020550 | Hyperthyroidism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020550 | Hyperthyroidism | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0020550 | Hyperthyroidism | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0020550 | Hyperthyroidism | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0020550 | Hyperthyroidism | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0020550 | Hyperthyroidism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020550 | Hyperthyroidism | BDH1 | 622 | 3-hydroxybutyrate dehydrogenase 1 | Q02338 |
| C0020546 | Hypertensive crisis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020545 | Hypertension, Renovascular | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0020545 | Hypertension, Renovascular | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020545 | Hypertension, Renovascular | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020545 | Hypertension, Renovascular | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0020545 | Hypertension, Renovascular | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020545 | Hypertension, Renovascular | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0020545 | Hypertension, Renovascular | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0020545 | Hypertension, Renovascular | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020544 | Renal hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020544 | Renal hypertension | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0020544 | Renal hypertension | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020544 | Renal hypertension | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C0020542 | Pulmonary Hypertension | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0020542 | Pulmonary Hypertension | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0020542 | Pulmonary Hypertension | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0020542 | Pulmonary Hypertension | HK1 | 3098 | hexokinase 1 | P19367 |
