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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 |
|---|---|---|---|---|---|
| C0020473 | Hyperlipidemia | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0020473 | Hyperlipidemia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0020473 | Hyperlipidemia | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0020473 | Hyperlipidemia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0020473 | Hyperlipidemia | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0020473 | Hyperlipidemia | ACLY | 47 | ATP citrate lyase | P53396 |
| C0020473 | Hyperlipidemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020473 | Hyperlipidemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020473 | Hyperlipidemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0020473 | Hyperlipidemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020473 | Hyperlipidemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020473 | Hyperlipidemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0020473 | Hyperlipidemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0020459 | Hyperinsulinism | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0020459 | Hyperinsulinism | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0020459 | Hyperinsulinism | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0020459 | Hyperinsulinism | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0020459 | Hyperinsulinism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020459 | Hyperinsulinism | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0020459 | Hyperinsulinism | GLA | 2717 | galactosidase alpha | P06280 |
| C0020459 | Hyperinsulinism | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0020459 | Hyperinsulinism | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0020459 | Hyperinsulinism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020459 | Hyperinsulinism | CS | 1431 | citrate synthase | O75390 |
| C0020459 | Hyperinsulinism | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
