rs917027829, CSF1R

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654 2009
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654 2009
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. 18794495 2008
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. 18794495 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. 18794495 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Biology and action of colony--stimulating factor-1. 8981357 1997
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Biology and action of colony--stimulating factor-1. 8981357 1997
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Biology and action of colony--stimulating factor-1. 8981357 1997
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937 1984
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937 1984
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937 1984