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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0036439 | Scoliosis, unspecified | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0241005 | Creatine phosphokinase serum increased | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0026848 | Myopathy | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C3280314 | Combined Malonic and Methylmalonic Aciduria | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0013421 | Dystonia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0268583 | Methylmalonic acidemia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0024299 | Lymphoma | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0011991 | Diarrhea | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0025521 | Inborn Errors of Metabolism | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0085584 | Encephalopathies | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0020615 | Hypoglycemia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0025517 | Metabolic Diseases | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C1332206 | Adult Lymphoma | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C1332979 | Childhood Lymphoma | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0025958 | Microcephaly | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0233794 | Memory impairment | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0149931 | Migraine Disorders | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0079731 | B-Cell Lymphomas | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0038379 | Strabismus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C3714756 | Intellectual Disability | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0282577 | Congenital Disorders of Glycosylation | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0028738 | Nystagmus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0036572 | Seizures | FCSK | 197258 | fucose kinase | Q8N0W3 |
