| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | In the systematic review, 12 biallelic TREM2 mutations (e.g., rs104894002, rs201258663 (T66M), and rs386834144, etc.) have been described to cause Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) in 14 families. | 30883352 | 2019 |
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|
G | 0.710 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in TREM2 lead to pure early-onset dementia without bone cysts. | 18546367 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. | 15883308 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. | 12925681 | 2003 |
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|
G | 0.700 | CausalMutation | CLINVAR | Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. | 12370476 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. | 12370476 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. | 10888890 | 2000 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |