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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 |
|---|---|---|---|---|---|
| C4551472 | Hypertrophic obstructive cardiomyopathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0015695 | Fatty Liver | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0220981 | Metabolic acidosis | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0018818 | Ventricular Septal Defects | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0302280 | Adrenogenital Syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0020615 | Hypoglycemia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0042514 | Tachycardia, Ventricular | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0015310 | Exotropia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0020473 | Hyperlipidemia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0011849 | Diabetes Mellitus | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0036572 | Seizures | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0004352 | Autistic Disorder | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C2239176 | Liver carcinoma | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0175694 | Smith-Lemli-Opitz Syndrome | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0006142 | Malignant neoplasm of breast | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0020538 | Hypertensive disease | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C3266731 | 2-methyl-3-hydroxybutyric aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C3696376 | 3-Methylglutaconic Aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0520947 | Clumsiness - motor delay | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0025958 | Microcephaly | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0020615 | Hypoglycemia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0085580 | Essential Hypertension | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0678222 | Breast Carcinoma | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
