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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 |
|---|---|---|---|---|---|
| C0023787 | Lipodystrophy | AGPAT1 | 10554 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | Q99943 |
| C0023787 | Lipodystrophy | LPL | 4023 | lipoprotein lipase | P06858 |
| C0023787 | Lipodystrophy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0023787 | Lipodystrophy | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0023787 | Lipodystrophy | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0023787 | Lipodystrophy | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0023787 | Lipodystrophy | GPC3 | 2719 | glypican 3 | P51654 |
| C0023787 | Lipodystrophy | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0023787 | Lipodystrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0023787 | Lipodystrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0023787 | Lipodystrophy | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0023787 | Lipodystrophy | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0023787 | Lipodystrophy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0023787 | Lipodystrophy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0023787 | Lipodystrophy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0023786 | Mucopolysaccharidosis I | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0023786 | Mucopolysaccharidosis I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0023786 | Mucopolysaccharidosis I | ARSB | 411 | arylsulfatase B | P15848 |
| C0023786 | Mucopolysaccharidosis I | CAT | 847 | catalase | P04040 |
| C0023772 | Lipid Metabolism, Inborn Errors | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0023772 | Lipid Metabolism, Inborn Errors | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0023772 | Lipid Metabolism, Inborn Errors | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0023772 | Lipid Metabolism, Inborn Errors | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0023652 | Lichen Sclerosus et Atrophicus | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0023652 | Lichen Sclerosus et Atrophicus | CAT | 847 | catalase | P04040 |
