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Browse result for Congenital myasthenic syndrome

※ introduction

    A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

Reference
DiseaseOntology: Congenital myasthenic syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02311O0046837579
AGRN
Agrin [Cleaved into: Agrin N-terminal 110 kDa subunit; Agrin C-terminal 110 kDa subunit; Agrin C-terminal 90 kDa fragment ; Agrin C-terminal 22 kDa fragment ]
Homo sapiens
PTMD06241Q062102673
GFPT1
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
Homo sapiens