AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Esophageal Achalasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765613977
rs765613977
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0014848
Disease:
Esophageal Achalasia 		0.010 GeneticVariation BEFREE Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. 29866068 2018