VPS54, VPS54 subunit of GARP complex, 51542

N. diseases: 14; N. variants: 2
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.210 Biomarker disease MGD Reduced GABAergic inhibition explains cortical hyperexcitability in the wobbler mouse model of ALS. 20643756 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.210 GeneticVariation disease BEFREE A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. 18574757 2008