Entity Details
Details
PrimaryID | 199857 |
RefseqGene | NG_042044 |
Symbol | ALG14 |
Name | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
Chromosome | 1 |
Location | 1p21.3 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2002-04-30 |
ModificationDate | 2021-06-19 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
616227 | OMIM | Myasthenic syndrome, congenital, 15 (CMS15) | A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions