Gene: GFAP ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease 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
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Neuroimaging and clinical features in type II (late-onset) Alexander disease. 24306001 2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Adult onset Alexander disease presenting with progressive spastic paraplegia. 24188966 2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings. 23743246 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Acute onset of adult Alexander disease. 23706596 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR "Magnetic resonance imaging ""tigroid pattern"" in Alexander disease." 23254569 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease. 23903069 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. 24045243 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease with mild dorsal brainstem atrophy and infantile spasms. 22818990 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease 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
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. 23925719 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease. 23149175 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. 23634874 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. 22566711 2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. 23185175 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy. 22198646 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. 22488673 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. 22619055 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A 2-month-old infant with vomiting, seizures, and progressive apathy. 22302460 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex. 21822933 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Archetypal and new families with Alexander disease and novel mutations in GFAP. 21987397 2012
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. 20849398 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. 21041050 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR AAO and the GFAP mutation site are important clinical predictors in AxD, with clear correlations to defined patterns of phenotypic expression. 21917775 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. 21132324 2011