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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 |
|---|---|---|---|---|---|
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3245525 | Familial renal glucosuria | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3245525 | Familial renal glucosuria | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C1850900 | Familial primary gastric lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1850900 | Familial primary gastric lymphoma | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1850900 | Familial primary gastric lymphoma | SELL | 6402 | selectin L | P14151 |
| C1850900 | Familial primary gastric lymphoma | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1850900 | Familial primary gastric lymphoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1850900 | Familial primary gastric lymphoma | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C1850900 | Familial primary gastric lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1850900 | Familial primary gastric lymphoma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1850900 | Familial primary gastric lymphoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1850900 | Familial primary gastric lymphoma | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0271694 | Familial partial lipodystrophy | LPL | 4023 | lipoprotein lipase | P06858 |
| C0271694 | Familial partial lipodystrophy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0271694 | Familial partial lipodystrophy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1333989 | Familial meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1833921 | Familial medullary thyroid carcinoma | NTM | 50863 | neurotrimin | Q9P121 |
| C1833921 | Familial medullary thyroid carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1833921 | Familial medullary thyroid carcinoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1833921 | Familial medullary thyroid carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0268398 | Familial lichen amyloidosis | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0268398 | Familial lichen amyloidosis | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0268398 | Familial lichen amyloidosis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
