Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		T 0.710 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 23816250

2013
dbSNP: rs587777247
rs587777247
CSF1R
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		A 0.710 CausalMutation CLINVAR De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). 24198292

2013