SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 Biomarker phenotype BEFREE Importantly, VAChT-KD<sup>HOM</sup> present with reduced ACh and muscle weakness, resembling CMS. 30003945 2018