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: rs386834143
rs386834143
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C4748657
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		A 0.700 CausalMutation CLINVAR DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. 12925681 2003