AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Glucocorticoid deficiency with achalasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754078574
rs754078574
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		0.010 GeneticVariation BEFREE Both of the R119X and R194X mutations are predicted to result in truncated and non-functioning ALADIN proteins, and thus the diagnosis of Allgrove syndrome was confirmed by the mutation analyses. 15516781 2004