Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2
Gene Symbol: A2M
A2M
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
0.100 SusceptibilityMutation CLINVAR

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
0.100 GeneticVariation CLINVAR A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. 31009165

2019

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
0.100 CausalMutation CLINVAR A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. 31009165

2019

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
0.100 SusceptibilityMutation CLINVAR

Entrez Id: 53947
Gene Symbol: A4GALT
A4GALT
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
0.100 CausalMutation CLINVAR

Entrez Id: 53947
Gene Symbol: A4GALT
A4GALT
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME
0.100 GeneticVariation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Triple A syndrome mimicking ALS. 18615337

2008

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 GeneticVariation CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313

2012

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. 15666842

2004

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 GeneticVariation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595

2002

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 12429595

2002

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 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

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. 11701718

2001

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome. 22538409

2012

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR AAA syndrome--adrenal insufficiency, alacrima and achalasia. 21865313

2012

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575

2003

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Glucocorticoid deficiency with achalasia
0.800 GeneticVariation CLINVAR Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. 26622478

2015

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. 6243664

1980

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 18628786

2008

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Triple A syndrome: genotype-phenotype assessment. 12752575

2003

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 16098009

2005

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation CLINVAR Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. 1537368

1992

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 CausalMutation CLINVAR