ITM2B, integral membrane protein 2B, 9445

N. diseases: 77; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
0.030 GeneticVariation disease BEFREE These latter proteins include the ABri and ADan subunits in familial British dementia and familial Danish dementia, respectively, which are also known under the umbrella term BRI2 gene-related dementias, variant cystatin C in hereditary cerebral haemorrhage with amyloidosis of Icelandic-type, variant transthyretins in meningo-vascular amyloidosis, disease-associated prion protein (PrP(Sc)) in hereditary prion disease with premature stop codon mutations and mutated gelsolin (AGel) in familial amyloidosis of Finnish type. 19225789 2009
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
0.030 Biomarker disease BEFREE Two non-Abeta cerebral amyloidoses, familial British and Danish dementias (FBD and FDD), share many aspects of AD, including cognitive impairment and the presence of neurofibrillary tangles in limbic areas. 18322382 2008
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial
0.030 Biomarker disease BEFREE Two non-Abeta cerebral amyloidoses, familial British and Danish dementias (FBD and FDD), share many aspects of Alzheimer's disease, including the presence of neurofibrillary tangles, parenchymal preamyloid and amyloid deposits, cerebral amyloid angiopathy and a variety of amyloid-associated proteins and inflammatory components. 15968464 2005