rs121918550, AAAS

N. diseases: 5
Disease: Glucocorticoid deficiency with achalasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
0.810 GeneticVariation BEFREE Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. 18172684 2008
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
0.810 GeneticVariation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947 2001
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
0.810 GeneticVariation UNIPROT Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947 2001
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
0.810 CausalMutation CLINVAR