| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.360 | GeneticVariation | disease | BEFREE | Plasma membrane receptors play primary roles as activators of microglia and in this review, we focus on a receptor complex involving triggering receptor expressed on myeloid cells 2 (TREM2) and DNAX-activating protein of 12 kDa (DAP12), both of which are causative genes for Nasu-Hakola disease, a dementia with bone cysts. | 30127720 | 2018 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | These results indicate that mutations in TYROBP are not a common cause of dementia in this Turkish cohort. | 28716534 | 2017 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | TREM2 and TYROBP are causal genes for Nasu-Hakola disease (NHD), a rare autosomal recessive disease characterized by bone lesions and early-onset progressive dementia. | 26332043 | 2015 | ||||
|
0.360 | Biomarker | disease | BEFREE | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy should be considered in adult patients under age 50 years with dementia and basal ganglia calcification. | 15883308 | 2005 | ||||
|
0.360 | GeneticVariation | disease | BEFREE | Distribution and signaling of TREM2/DAP12, the receptor system mutated in human polycystic lipomembraneous osteodysplasia with sclerosing leukoencephalopathy dementia. | 15548205 | 2004 | ||||
|
0.360 | Biomarker | disease | GENOMICS_ENGLAND | Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. | 15049507 | 2004 | ||||
|
0.360 | Biomarker | disease | BEFREE | Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. | 15049507 | 2004 | ||||
|
0.360 | Biomarker | disease | GENOMICS_ENGLAND | Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. | 10888890 | 2000 |