Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894732
rs104894732
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		G 0.700 CausalMutation CLINVAR Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. 12370476 2002
dbSNP: rs386833840
rs386833840
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		T 0.700 CausalMutation CLINVAR Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. 12370476 2002
dbSNP: rs386833840
rs386833840
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		T 0.700 CausalMutation CLINVAR Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. 10888890 2000
dbSNP: rs104894732
rs104894732
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C4721893
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs386833839
rs386833839
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs386833840
rs386833840
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs386833841
rs386833841
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs386833842
rs386833842
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1857316
Disease:
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs370767403
rs370767403
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE Three variants in TREM2 (rs75932628 (R47H), rs2234255 (H157Y), and rs143332484 (R62H)) were significantly associated with AD risk, but the similar associations between rs104894002 (Q33X), rs2234253 (T96K), rs142232675 (D87N), rs2234256 (L211P), and AD were not proven. 30883352 2019
dbSNP: rs758290972
rs758290972
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232 2018
dbSNP: rs372140827
rs372140827
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We found genetic variants in additional ALS or dementia-related genes in four pedigrees, including the p.V47A variant in the TYROBP gene. 28620717 2017