Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment. 28768830 2017
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation. 29142083 2017
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms. 27995897 2016
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus. 25615530 2015
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. 23399524 2013
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 15883308 2005
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. 12925681 2003
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 12754369 2003
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.800 GeneticVariation UNIPROT Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 12080485 2002
dbSNP: rs28939079
rs28939079
Entrez Id: 54209;340205;105375056
Gene Symbol: TREM2;TREML1;LOC105375056
TREM2;TREML1;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		C 0.800 CausalMutation CLINVAR