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 |
---|---|---|---|---|---|
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 |
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 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024