AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Motor Neuron Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758440592
rs758440592
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0085084
Disease:
Motor Neuron Disease 		0.010 GeneticVariation 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