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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 |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | AMT | 275 | aminomethyltransferase | P48728 |
| C0025517 | Metabolic Diseases | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0025517 | Metabolic Diseases | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0025517 | Metabolic Diseases | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0025517 | Metabolic Diseases | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0025517 | Metabolic Diseases | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0025517 | Metabolic Diseases | ACLY | 47 | ATP citrate lyase | P53396 |
| C0025517 | Metabolic Diseases | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0025517 | Metabolic Diseases | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0025517 | Metabolic Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0025517 | Metabolic Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0025517 | Metabolic Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0025517 | Metabolic Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0025517 | Metabolic Diseases | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0025517 | Metabolic Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0025517 | Metabolic Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0524620 | Metabolic Syndrome X | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0524620 | Metabolic Syndrome X | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0524620 | Metabolic Syndrome X | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0524620 | Metabolic Syndrome X | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0524620 | Metabolic Syndrome X | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0524620 | Metabolic Syndrome X | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524620 | Metabolic Syndrome X | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0524620 | Metabolic Syndrome X | ARSA | 410 | arylsulfatase A | P15289 |
| C0524620 | Metabolic Syndrome X | ARSB | 411 | arylsulfatase B | P15848 |
