rs690016548, CSF1R

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Diffuse Leukoencephalopathy with Spheroids
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
0.700 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896 2013
Hereditary Diffuse Leukoencephalopathy with Spheroids
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
0.700 CausalMutation CLINVAR A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. 24034409 2013
Multiple Sclerosis, Primary Progressive
CUI: C0751964
Disease: Multiple Sclerosis, Primary Progressive
0.010 GeneticVariation BEFREE The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. 24034409 2013