Gene: GFAP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Focal central white matter lesions in Alexander disease. 21572052

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 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
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 Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. 12638020

2003
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 Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. 12368989

2002
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
A 0.850 CausalMutation CLINVAR Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 11567214

2001
dbSNP: rs58064122
rs58064122
GFAP
A 0.850 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease. 24742911

2014
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. 18684770

2008
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Can MR imaging diagnose adult-onset Alexander disease? 18388212

2008
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. 17894839

2007
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. 16505300

2006
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. 15732097

2005
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W. 15390001

2004
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR The fact that a R416W mutation causes various types of AD suggests that clinical severities of AD are due not only to the different sites and nature of mutations in GFAP, but also to other modifying factor(s). 14550921

2003
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002
dbSNP: rs121909717
rs121909717
GFAP
A 0.830 CausalMutation CLINVAR Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs59565950
rs59565950
GFAP
T 0.820 CausalMutation CLINVAR Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran. 24427505

2013
dbSNP: rs59793293
rs59793293
GFAP
A 0.820 CausalMutation CLINVAR "Magnetic resonance imaging ""tigroid pattern"" in Alexander disease." 23254569

2013
dbSNP: rs59565950
rs59565950
GFAP
A 0.820 CausalMutation CLINVAR Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. 21041050

2011