CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
Disease: Osteopetrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.110 Biomarker disease BEFREE The observed phenotypes for these recessive variants were novel (e.g., FBN2-related myopathy and CSF1R-related brain malformation and osteopetrosis), typical (e.g., ACTG2-related visceral myopathy), or an apparently healthy state (e.g., PDE11A), consistent with the corresponding mouse knockout phenotypes. 28383543 2017
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.110 Biomarker disease HPO