AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918549
rs121918549
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		T 0.810 CausalMutation CLINVAR Triple A syndrome mimicking ALS. 18615337 2008
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
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
dbSNP: rs121918549
rs121918549
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		0.810 GeneticVariation BEFREE 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
dbSNP: rs121918549
rs121918549
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
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
dbSNP: rs121918549
rs121918549
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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
dbSNP: rs121918549
rs121918549
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
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: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		G 0.810 GeneticVariation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947 2001
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
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
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		G 0.810 CausalMutation CLINVAR
dbSNP: rs121918548
rs121918548
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		0.720 GeneticVariation BEFREE Whole exome sequencing revealed bi-allelic AAAS nonsense mutations; one individual was homozygous for the p.(Arg478*) mutation, and two siblings were homozygous for the p.(Arg286*) mutation, leading to the diagnosis of triple A syndrome. 30381913 2018
dbSNP: rs121918548
rs121918548
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		0.720 GeneticVariation BEFREE Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. 14646395 2004
dbSNP: rs121918548
rs121918548
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		A 0.720 CausalMutation CLINVAR
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. 26622478 2015
dbSNP: rs770214071
rs770214071
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		T 0.700 CausalMutation CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313 2012
dbSNP: rs770214071
rs770214071
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		T 0.700 GeneticVariation CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313 2012
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 18628786 2008
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 16098009 2005
dbSNP: rs121918550
rs121918550
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575 2003
dbSNP: rs773601814
rs773601814
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		G 0.700 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575 2003
dbSNP: rs770214071
rs770214071
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		T 0.700 CausalMutation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595 2002
dbSNP: rs770214071
rs770214071
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0271742
Disease:
Glucocorticoid deficiency with achalasia 		T 0.700 GeneticVariation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595 2002