TMEM106B, transmembrane protein 106B, 54664

N. diseases: 126; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 Biomarker disease BEFREE TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP). 21104415 2011
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 GeneticVariation disease BEFREE We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)). 21178100 2011
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 GeneticVariation disease BEFREE Homozygous carriers of the TMEM106B protective alleles had a 50% reduced risk of developing frontotemporal lobar degeneration. 21354975 2011
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 GeneticVariation disease BEFREE Rs1990622 (TMEM106B) was identified as a risk factor for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) in a recent genome-wide association. 21220649 2011
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 Biomarker disease BEFREE With the TMEM106B gene, a new player has been identified in the pathogenic cascade of FTLD which could hold important implications for the future development of disease-modifying therapies. 21614538 2011
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.400 Biomarker disease CTD_human Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. 20154673 2010
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
0.300 SusceptibilityMutation disease ORPHANET What we know about TMEM106B in neurodegeneration. 27543298 2016
Primary Progressive Nonfluent Aphasia
0.300 SusceptibilityMutation disease ORPHANET What we know about TMEM106B in neurodegeneration. 27543298 2016
Behavioral variant of frontotemporal dementia
0.300 SusceptibilityMutation disease ORPHANET What we know about TMEM106B in neurodegeneration. 27543298 2016
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
0.300 SusceptibilityMutation disease ORPHANET TMEM106B a novel risk factor for frontotemporal lobar degeneration. 21614538 2011
Primary Progressive Nonfluent Aphasia
0.300 SusceptibilityMutation disease ORPHANET TMEM106B a novel risk factor for frontotemporal lobar degeneration. 21614538 2011
Behavioral variant of frontotemporal dementia
0.300 SusceptibilityMutation disease ORPHANET TMEM106B a novel risk factor for frontotemporal lobar degeneration. 21614538 2011
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers including TMEM106B (in GRN carriers particularly) and a polymorphism at a locus containing two overlapping genes LOC101929163 and C6orf10 (in C9orf72 carriers). 31119452 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE The TMEM106B rs1990622<sup>T</sup> allele, linked to increased risk of FTD, associated with greater MMSE decline over time in PD subjects but not in AD or MCI subjects. 30973966 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 Biomarker disease BEFREE Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. 29855382 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 Biomarker disease BEFREE As TMEM106B is a risk factor for frontotemporal dementia caused by both C9orf72 and progranulin mutations, and antisense oligonucleotides are showing promise as therapeutics for neurodegenerative diseases, our data suggests a potential new strategy for treating the wide range of frontotemporal dementias associated with endolysosomal dysfunction. 30496365 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE Multiple genome-wide association studies have shown that risk of FTD in GRN mutation carriers is modified by polymorphisms in TMEM106B, which encodes a lysosomal membrane protein. 29929528 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE Polymorphisms in TMEM106B are thought to modify disease onset in frontotemporal dementia, but its relation to myelination is not understood. 29186371 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE We subsequently performed a genome-wide association study and identified the TMEM106B and GRN gene loci, previously associated with frontotemporal dementia, as determinants of Δ-aging in the cerebral cortex with genome-wide significance. 28330615 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE Recent studies found that two polymorphisms (rs363371 and rs363324) in VMAT2 might be a risk factor for Parkinson's disease (PD) in Caucasians, while the two other variants (rs1990622 and rs3173615) in TMEM106B increased the risk for frontotemporal dementia (FTD). 28477711 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE TMEM106B polymorphism, rs1990622 T/C) on grey matter volume in a large cohort of presymptomatic subjects bearing frontotemporal dementia-related pathogenic mutations. 28460069 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). 28888721 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 Biomarker disease BEFREE Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice. 28728022 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 GeneticVariation disease BEFREE In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10(-7)) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia. 25778476 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.200 AlteredExpression disease BEFREE These findings suggest that the up-regulation of TMEM106B may increase the risk of FTLD by directly causing neurotoxicity and a pathological phenotype linked to FTLD-TDP. 27563066 2016