Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.120 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

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.120 Biomarker BEFREE Triple A syndrome (AAAS, OMIM#231550) is an autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima, neurodegeneration and autonomic dysfunction. 16098009

2005

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
0.120 Biomarker HPO