GFAP, glial fibrillary acidic protein, 2670

N. diseases: 447; N. variants: 99
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Thus, our study suggested that mitochondria dynamically transferred between neural cells and revealed that AxD-associated mutations in GFAP gene disrupted the astrocytic transfer, providing a potential pathogenic mechanism in AxD. 31327963 2019
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients. 12581808 2003
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. 22890470 2012
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 AlteredExpression disease LHGDN Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations. 16217707 2005
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations. 16217707 2005
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. 18584981 2009
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		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
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. 20849398 2011
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. 31455510 2020
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease UNIPROT We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients. 12581808 2003
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE The patient was diagnosed with AxD after direct sequencing revealing a de novo recurrent mutation, c.1246C>T (p.R416W) in GFAP. 30213442 2019
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. 20849398 2011
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. 15390001 2004
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. 18217876 2008
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. 16168593 2006
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Infantile Alexander disease is a rare progressive leukodystrophy caused by autosomal dominant mutations in the (GFAP) gene typically presenting with psychomotor retardation, progressive macrocephaly and refractory epilepsy. 29191363 2018
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker disease BEFREE This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. 11723390 2001
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations. 16217707 2005
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease UNIPROT We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP. 17934883 2007
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR 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
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		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
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 Biomarker disease BEFREE Our findings seem to suggest that the mechanism of development of AxD may not be due to a function gain due to increase of GFAP, but to failure in the differentiation process may occur at the stage in which precursor cells transform into oligodendrocytes, and that possibility may provide the best explanation for the clinical and radiological images described in AxD. 28634469 2017
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease UNIPROT Analysis of the GFAP gene revealed a heterozygous missense mutation, c.827G>T, p.R276L, which was already shown to be pathogenic in a case of pathologically proven hereditary adult-onset ALX. 20359319 2010
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 CausalMutation disease CLINVAR Autosomal dominant palatal myoclonus and spinal cord atrophy. 11867077 2002
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		1.000 GeneticVariation disease BEFREE Mutations in human GFAP have been associated with a severe childhood brain disorder called Alexander disease. 12801639 2003