Gene: CHMP2B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 Biomarker disease BEFREE FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS. 29578490 2018
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE Mutations in TARDBP and VCP give rise to FTLD-TDP, mutations in FUS to FTLD-FUS, and mutations in CHMP2B to FTLD-UPS. 22355793 2012
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE Mutations in the charged multivesicular body protein 2B (CHMP2B) gene cause frontotemporal lobar degeneration. 22366797 2012
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE Our aim was to determine the frequency of CHMP2B mutations in a clinical series of patients with FTLD in Northern Finland. 20412296 2010
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE We conclude that CHMP2B mutations represent a rare cause of familial FTLD and they are not implicated in familial FTLD-MND in French patients. 20625756 2010
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE This finding suggests that mutations in CHMP2B have widespread effects throughout the brain, leading to a neuro-anatomical signature distinct from other diseases in the frontotemporal lobar degeneration spectrum. 19202337 2009
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE Together, these data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in FTLD by disturbing endosome function. 17956895 2008
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 Biomarker disease CTD_human Together, these data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in FTLD by disturbing endosome function. 17956895 2008
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 Biomarker disease BEFREE Presently, mutations in 4 genes (MAPT, PGRN, VCP, CHMP2B) are known to cause diverse types of FTLD pathology. 17702495 2007
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 Biomarker disease BEFREE The neuropathology associated with each of the known non-MAPT FTLD genes and loci (PGRN, valosin-containing protein gene, CHMP2B and 9p), has been shown to be a specific subtype of FTLD-U. 17805587 2007
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		0.400 GeneticVariation disease BEFREE We conclude that mutations in CHMP2B are a rare cause of familial FTLD and may be specific to the Danish pedigree. 16431024 2006