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: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. 11914409 2002
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE Proteolytic processing of familial British dementia-associated BRI variants: evidence for enhanced intracellular accumulation of amyloidogenic peptides. 11709554 2002
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE FBD is associated with a point mutation in the stop codon of the BRI gene. 11419943 2001
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 GermlineCausalMutation disease ORPHANET A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE N-terminal sequence analysis of isolated leptomeningeal amyloid fibrils revealed homology to ABri, the peptide originated by a point mutation at the stop codon of gene BRI in familial British dementia. 10781099 2000
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE Collectively, our results support the view that enhanced furin-mediated processing of mutant BRI generates amyloidogenic peptides that initiate the pathogenesis of FBD. 11193182 2000
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GeneticVariation disease BEFREE A stop-codon mutation in the BRI gene associated with familial British dementia. 10391242 1999
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease GENOMICS_ENGLAND A stop-codon mutation in the BRI gene associated with familial British dementia. 10391242 1999
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 GermlineCausalMutation disease ORPHANET A stop-codon mutation in the BRI gene associated with familial British dementia. 10391242 1999
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 CausalMutation disease CLINVAR
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish 		0.800 Biomarker disease CTD_human
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 CausalMutation disease CLINVAR
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		0.800 Biomarker disease CTD_human
CUI: C4015146
Disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 		0.700 GeneticVariation disease UNIPROT The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. 24026677 2014
CUI: C4015146
Disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 		0.700 GermlineCausalMutation disease ORPHANET The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. 24026677 2014
CUI: C4015146
Disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 		0.700 Biomarker disease CTD_human
CUI: C4015146
Disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 		0.700 CausalMutation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.300 Biomarker group CTD_human A custom rat and baboon hypertension gene array to compare experimental models. 22228705 2012
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.300 Biomarker group GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.300 Biomarker phenotype GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage 		0.300 Biomarker phenotype GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.300 Biomarker disease GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.300 Biomarker disease GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099 2000