CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
Disease: Dysosteosclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		0.010 GeneticVariation disease BEFREE Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 30982609 2019