CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
Disease: Vasculitis, Central Nervous System ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751878
Disease: Vasculitis, Central Nervous System
Vasculitis, Central Nervous System 		0.010 GeneticVariation disease BEFREE We estimate that CSF1R mutations account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R mutations is essential in adult patients presenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or dementia. 25935893 2016