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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol ▼ | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0085700 | Chondromalacia | ACAN | 176 | aggrecan | P16112 |
C0037369 | Smoking | ACAN | 176 | aggrecan | P16112 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0001627 | Congenital adrenal hyperplasia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0028754 | Obesity | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0878544 | Cardiomyopathies | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C1282975 | von Willebrand Disease, Type 2N | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0031039 | Pericardial effusion | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0018784 | Sensorineural Hearing Loss (disorder) | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0007194 | Hypertrophic Cardiomyopathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0023895 | Liver diseases | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0342784 | Pearson's marrow-pancreas syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C2750441 | LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0004245 | Atrioventricular Block | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0016522 | Foramen Ovale, Patent | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0026848 | Myopathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0020598 | Hypocalcemia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0282160 | Aplasia Cutis Congenita | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C2711227 | Steatohepatitis | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0206667 | Adrenal Cortical Adenoma | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0524620 | Metabolic Syndrome X | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0007193 | Cardiomyopathy, Dilated | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C3150651 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
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Last updated: August 19, 2024