Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. 25311247

2015
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. 25012610

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Our goal is to describe three unrelated Italian patients affected by HDLS and carrying new CSF1R mutations, thus expanding the mutational spectrum and phenotypic presentation. 24532199

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). 24198292

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation 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
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation 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
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. 24094860

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. 24034409

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		0.800 CausalMutation CLINVAR Involvement of tryptase-related cellular protease(s) in human immunodeficiency virus type 1 infection. 2470618

1989
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.500 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.400 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.400 GeneticVariation CLINVAR FMS mutations in myelodysplastic, leukemic, and normal subjects. 2406720

1990
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.170 GeneticVariation CLINVAR

Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.150 CausalMutation CLINVAR

Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CSF1R mutations link POLD and HDLS as a single disease entity. 23408870

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. 24145216

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation 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