|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers.
|
17578852 |
2007 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Giant axonal neuropathy is usually caused by mutations in the gigaxonin gene (GAN) but genetic heterogeneity has been demonstrated for a milder variant of this disease.
|
17587580 |
2007 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
MGD |
Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder.
|
16565160 |
2006 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder.
|
16565160 |
2006 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB) , a function disrupted by GAN-associated mutations.
|
16303566 |
2005 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
MGD |
Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB) , a function disrupted by GAN-associated mutations.
|
16303566 |
2005 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with them.
|
15897506 |
2005 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
|
14718689 |
2004 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study shows the allelic heterogeneity of GAN and expands the spectrum of mutations in the GAN gene.
|
14718689 |
2004 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of seven novel mutations in the GAN gene.
|
12655563 |
2003 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of seven novel mutations in the GAN gene.
|
12655563 |
2003 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification of seven novel mutations in the GAN gene.
|
12655563 |
2003 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
|
11971098 |
2002 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.
|
11971098 |
2002 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
|
11062483 |
2000 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
|
11062483 |
2000 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
|
11062483 |
2000 |
|
GIANT AXONAL NEUROPATHY 1
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Peripheral Nervous System Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy.
|
19398414 |
2009 |
|
Forced expiratory volume function
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
|
26634245 |
2015 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Phenotypic variability in giant axonal neuropathy.
|
19231187 |
2009 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Giant axonal neuropathy.
|
17256086 |
2007 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.
|
11053687 |
2000 |
|
Movement Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.
|
2153943 |
1990 |
|
Accidental Falls
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|