Disease: Bone Cysts ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753325601
rs753325601
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0005937
Disease:
Bone Cysts 		0.010 GeneticVariation BEFREE We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. 29748150 2018
dbSNP: rs104894002
rs104894002
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0005937
Disease:
Bone Cysts 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530 2015
dbSNP: rs201258663
rs201258663
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0005937
Disease:
Bone Cysts 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530 2015
dbSNP: rs797044603
rs797044603
Entrez Id: 54209;105375056
Gene Symbol: TREM2;LOC105375056
TREM2;LOC105375056
CUI: C0005937
Disease:
Bone Cysts 		0.010 GeneticVariation BEFREE Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts. 25615530 2015