AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Dysautonomia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.120 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: C0013363
Disease: Dysautonomia
Dysautonomia 		0.120 Biomarker disease BEFREE Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. 16098009 2005
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.120 Biomarker disease HPO