Gene: GFAP ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. 24742911

2014
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. 23364391

2013
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. 23743246

2013
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 21533827

2011
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 21533827

2011
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Focal central white matter lesions in Alexander disease. 21572052

2011
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT GFAP mutations, age at onset, and clinical subtypes in Alexander disease. 21917775

2011
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. 19412928

2009
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Adult-onset Alexander disease : report on a family. 18004641

2008
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Adult-onset Alexander disease with progressive ataxia and palatal tremor. 17960815

2008
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. 17805552

2007
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. 17934883

2007
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. 17894839

2007
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. 17043438

2006
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations.In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis. 15675360

2005
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. 15732097

2005
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. 15732097

2005
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Unusual variants of Alexander's disease. 15732098

2005
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. 12581808

2003
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. 12638020

2003
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? 12944715

2003
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. 12581808

2003
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. 12975300

2003
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease. 12026242

2002
dbSNP: rs58064122
rs58064122
GFAP
0.850 GeneticVariation UNIPROT Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002