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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 |
|---|---|---|---|---|---|
| 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 |
| C0015469 | Facial paralysis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0016202 | Flatfoot | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C4015596 | MYASTHENIC SYNDROME, CONGENITAL, 15 | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0520947 | Clumsiness - motor delay | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0005745 | Blepharoptosis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0036857 | Severe intellectual disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C3714756 | Intellectual Disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0036439 | Scoliosis, unspecified | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
