GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE Progranulin as a therapeutic target for dementia. 29889573 2018
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease LHGDN Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 16862115 2006
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN It also demonstrates that half of the patients with a PGRN mutation in our series had no apparent family history of dementia. 17436289 2007
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE We studied the clinical and pathologic features of HpScl in 205 consecutive patients with dementia who came to autopsy from 1997 to 2008, focusing on associations with TAR DNA-binding protein 43 (TDP-43) pathology and allelic variants in the progranulin (GRN) and apolipoprotein E (APOE). 21346515 2012
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dementia). 30921613 2019
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE An autosomal dominant mutation in GRN, the gene for PGRN, leads to neuronal atrophy in the frontal and temporal lobes, resulting in the disease frontotemporal lobar dementia. 19795409 2009
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease LHGDN We were able to demonstrate progranulin immunoreactivity throughout the medial temporal lobe in all dementia with Lewy body cases. 18955727 2009
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE This case confirms progranulin plasma levels as a reliable biomarker to identify GRN deletion carriers and discriminate between FTLD and other dementias which may mimic it. 19683260 2009
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE Due to the functions of PGRN in neuronal survival and the clinicopathological overlaps between FTD and other dementias it is likely that reduced PGRN expression is associated with the progression of other neurodegenerative brain diseases including Alzheimer's disease. 17168647 2006
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE Once a cure for GRN-related neurodegeneration becomes available, this biomarker will be an important tool in the effort to personalize treatment of dementia. 20387302 2010
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. 18322394 2008
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 18183624 2008
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE The GRN gene should be analyzed in patients with PCA, particularly when the damage progresses to anterior cerebral regions and a family history of dementia is present. 25546130 2015
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 17439980 2007
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
CUI: C0497327
Disease: Dementia
Dementia
0.500 AlteredExpression disease BEFREE Being predictive for GRN null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia. 20930271 2011
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 17620546 2007
CUI: C0497327
Disease: Dementia
Dementia
0.500 Biomarker disease BEFREE The discovery that mutations in the gene encoding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) and other neurodegenerative diseases leading to dementia has brought renewed interest in progranulin and its functions in the central nervous system. 24018267 2014
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease LHGDN Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 17345602 2007
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE We describe a case of late onset frontotemporal dementia carrying the g.1977_1980 delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family history for dementia and a clinical phenotype resembling dementia with Lewy bodies. 23478307 2013
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. 22312439 2012
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. 24005336 2013
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE Progranulin mutations were identified as a major cause of FTLD and a potential susceptibility factor for other forms of dementia. 19640594 2009
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE This is consistent with the finding that miR-659 binding to the high risk T allele of rs5848 may augment translational inhibition of GRN and alter risk of FTD and possibly other dementias. 21047645 2011
CUI: C0497327
Disease: Dementia
Dementia
0.500 GeneticVariation disease BEFREE It also demonstrates that half of the patients with a PGRN mutation in our series had no apparent family history of dementia. 17436289 2007