Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP). 29095329

2017
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings. 16505300

2006
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND Unusual variants of Alexander's disease. 15732098

2005
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. 14557587

2003
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND This is the first report of identification of the causative mutation of the GFAP gene for neuropathologically proven hereditary adult-onset Alexander's disease, suggesting a common molecular mechanism underlies the three Alexander's disease subtypes. 12447932

2002
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay. 12034785

2002
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker GENOMICS_ENGLAND