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
|
Cortical Congenital Hyperostosis
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
53947 |
Gene Symbol: |
A4GALT |
A4GALT
|
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
|
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
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.
|
6243664 |
1980 |
Entrez Id: |
8086 |
Gene Symbol: |
AAAS |
AAAS
|
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
|
Multiple congenital anomalies
|
0.100 |
CausalMutation |
CLINVAR |
Triple A syndrome: genotype-phenotype assessment.
|
12752575 |
2003 |
Entrez Id: |
8086 |
Gene Symbol: |
AAAS |
AAAS
|
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
|
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
|
Babinski Reflex
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|