CSF1, colony stimulating factor 1, 1435

N. diseases: 259; N. variants: 7
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 GeneticVariation disease BEFREE Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. 27749956 2016