Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease BEFREE In a unique Danish family, inherited FTD is caused by a mutation in the CHMP2B gene located on chromosome 3 (FTD-3). 28888721 2017
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 Biomarker disease BEFREE In humans, the H<sup>+</sup>-coupled Fe<sup>2+</sup> transporter DMT1 (SLC11A2) is essential for proper maintenance of iron homeostasis. 28754960 2017
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 Biomarker disease BEFREE Furthermore, neurons in the affected spinal cord and brain regions showed accumulation of p62-positive cytoplasmic inclusions associated or not with ubiquitin and CHMP2B<sup>intron5</sup> As observed in FTD3 patients, these inclusions were negative for TDP-43 and FUS. 27329763 2016
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease BEFREE Mutations in charged multivesicular body protein 2B (CHMP2B), which is involved in endosomal protein trafficking, have been found in chromosome 3-linked frontotemporal dementia. 26651479 2015
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 Biomarker disease GENOMICS_ENGLAND Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). 20352044 2010
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 Biomarker disease GENOMICS_ENGLAND CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. 17956895 2008
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease BEFREE A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 16584902 2006
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease UNIPROT Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 16041373 2005
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease BEFREE Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake. 16091455 2005
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 GeneticVariation disease BEFREE Transferrin (Tf)-dependent iron uptake is defective because of a mutation in DMT1 (Nramp2), blocking endosomal iron efflux. 9989781 1999
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 CausalMutation disease CLINVAR
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		0.770 Biomarker disease CTD_human