Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. 22538409

2012
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Triple A syndrome mimicking ALS. 18615337

2008
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. 16609705

2006
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR To examine the cellular localization of ALADIN mutants causing triple A syndrome, we investigated nine different ALADIN-mutants: 2 nonsense (W84X, Q456X), 2 frameshift (F157fsX171, G397fsX414) and 5 point mutations (Q15K, L25P, H160R, S263P, L381R) by transfection experiments with green fluorescence protein. 15666842

2004
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595

2002
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001
dbSNP: rs121918549
rs121918549
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR A novel point mutation, 43C-->A(Gln15Lys), in exon 1 of the AAAS gene was identified in the homozygote state in a Canadian AS kindred with a milder AS phenotype. 11701718

2001