Gene: CSF1R ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230 2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR CSF1R mutations link POLD and HDLS as a single disease entity. 23408870 2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 23816250 2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. 23411710 2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896 2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. 24145216 2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Update of the original HDLS kindred: divergent clinical courses. 22098561 2012
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR MRI characteristics and scoring in HDLS due to CSF1R gene mutations. 22843259 2012
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934 2011
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654 2009
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. 18794495 2008
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Biology and action of colony--stimulating factor-1. 8981357 1997
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 CausalMutation disease CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937 1984