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 Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. 21270471 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Focal central white matter lesions in Alexander disease. 21572052 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. 21165639 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. 21533827 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. 20562394 2010
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. 18584981 2009
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease: An important mimicker of focal brainstem glioma. 19672978 2009
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. 19418047 2009
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease: early presence of cerebral MRI criteria. 19128991 2009
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR [Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene]. 19618846 2009
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR This is the first report of a novel deletion mutation in the glial fibrillary acidic protein gene with a frame shift associated with Alexander disease. 18054694 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. 18217876 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Neonatal Alexander disease: MR imaging prenatal diagnosis. 18653683 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR GFAP has been identified to be the only gene associated with Alexander disease since 2001. 18079314 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. 18402384 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Valproate-induced parkinsonism, glial cells and Alexander's disease. 18495313 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Can MR imaging diagnose adult-onset Alexander disease? 18388212 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. 18581469 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. 18684770 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. 17960815 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR To date, more than 40 different GFAP mutations have been reported in AD. 17894839 2007
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis. 17383133 2007
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. 17110673 2007
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. 17438228 2007
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		1.000 CausalMutation disease CLINVAR Mutations of the GFAP gene, encoding Glial Fibrillary Acidic Protein, have been recognized as the cause of Alexander disease. 17985264 2007