Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease CTD_human
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease CLINVAR
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease BEFREE Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. 15049507 2004
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family. 21834902 2011
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease BEFREE Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease. 12925681 2003
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease BEFREE Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL) is a rare hereditary disease affecting both brain and bones. 2295586 1990
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease BEFREE Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. 23399524 2013
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE TREM2 mutations are the genetic basis for a condition characterized by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) and an early-onset dementia syndrome. 23582655 2013
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. 23870839 2013
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		0.010 GeneticVariation disease BEFREE C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. 24612676 2014
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. 24910390 2014
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE TREM2 mutations are genetically linked to Nasu-Hakola disease and associated with multiple neurodegenerative disorders, including Alzheimer's disease. 28490631 2017
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia. 30033062 2018
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE TREM2 homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. 30797549 2020
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 GeneticVariation disease BEFREE A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. 17125796 2007
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature. 28214109 2017
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 GeneticVariation disease BEFREE Although TREM2 mutation is reported to be related to Nasu-Hakola disease and Alzheimer's disease, little is known about the association between TREM2 and gliomas. 26506595 2016
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 GeneticVariation disease BEFREE C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. 24612676 2014
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 CausalMutation disease CLINVAR DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. 12925681 2003
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease MGD Deletions in the DAP12 gene in humans result in Nasu-Hakola disease, characterized by a combination of bone fractures and psychotic symptoms similar to schizophrenia, rapidly progressing to presenile dementia. 12569157 2003
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		0.500 AlteredExpression disease BEFREE Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease. 18404378 2009
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 AlteredExpression disease BEFREE Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease. 18404378 2009
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP 		0.700 Biomarker disease BEFREE Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease. 22080356 2012