Gene: GFAP ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518685
rs1057518685
GFAP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs112611995
rs112611995
GFAP
C 0.700 CausalMutation CLINVAR Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. 22488673

2012
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. 12034796

2002
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT GFAP mutations, age at onset, and clinical subtypes in Alexander disease. 21917775

2011
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 Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 12034785

2002
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT Adult-onset Alexander disease with progressive ataxia and palatal tremor. 17960815

2008
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 Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT Adult-onset Alexander disease : report on a family. 18004641

2008
dbSNP: rs121909717
rs121909717
GFAP
0.830 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: rs121909717
rs121909717
GFAP
0.830 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: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. 17934883

2007
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? 12944715

2003
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
0.830 GeneticVariation UNIPROT Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 11138011

2001
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
0.830 GeneticVariation UNIPROT Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. 17805552

2007
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. 15732097

2005
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. 17043438

2006
dbSNP: rs121909717
rs121909717
GFAP
0.830 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: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 21533827

2011
dbSNP: rs121909717
rs121909717
GFAP
0.830 GeneticVariation UNIPROT A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. 11595337

2001
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
0.830 GeneticVariation UNIPROT Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. 12581808

2003