FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Deficiency of acetylcholinesterase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1283397
Disease: Deficiency of acetylcholinesterase
Deficiency of acetylcholinesterase 		0.010 Biomarker disease BEFREE Mutations have yet to be characterized for familial infantile myasthenia, acetylcholinesterase deficiency and ACh-receptor deficiency; but genes encoding both structural and functional NMJ protiens should be considered. 9004414 1997