| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.190 | GeneticVariation | disease | BEFREE | Altogether, these data indicate that the neuronal expression of human CHMP2B<sup>intron5</sup> in areas involved in motor and cognitive functions induces progressive motor alterations associated with dementia symptoms and with histopathological hallmarks reminiscent of both ALS and FTD. | 27329763 | 2016 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. | 23142962 | 2013 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | These data describe the first mouse model of dementia caused by CHMP2B mutation and provide new insights into the mechanisms of CHMP2B-induced neurodegeneration. | 22366797 | 2012 | ||||
|
0.190 | Biomarker | disease | BEFREE | Further, we discuss recent advances and current concepts in the understanding of CHMP2B-related dementia. | 18484988 | 2008 | ||||
|
0.190 | Biomarker | disease | LHGDN | No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. | 16979267 | 2007 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. | 16941655 | 2006 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B. | 17095158 | 2006 | ||||
|
0.190 | GeneticVariation | disease | BEFREE | The putative pathogenicity of CHMP2B mutations for dementia is discussed. | 16954699 | 2006 | ||||
|
0.190 | GeneticVariation | disease | LHGDN | CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. | 16941655 | 2006 | ||||
|
0.190 | GeneticVariation | disease | LHGDN | Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. | 16041373 | 2005 | ||||
|
0.190 | Biomarker | disease | HPO |