AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
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 		0.020 GeneticVariation disease BEFREE Here, we explored the consequences of the homozygous AAAS mutation c.464G>A (p.R155H) in central nervous system tissues and fibroblasts of a novel AS patient presenting motor neuron disease, cerebellar ataxia, and autonomic dysfunction. 31600784 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.020 Biomarker disease BEFREE Careful assessment for alacrima followed by molecular genetic analysis of AAAS should be considered in patients who show a combined phenotype of motor neuron disease and sensory/autonomic disturbance, even in elderly patients. 20674935 2010