Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R disease C3711381 CausalMutation 0.8 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R disease C3711381 Biomarker 0.8 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R disease C3711381 GermlineCausalMutation 0.8 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R disease C3711381 GeneticVariation 0.8 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R disease C3711381 AlteredExpression 0.8 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids AARS2 disease C3711381 GermlineCausalMutation 0.31 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids AARS2 disease C3711381 Biomarker 0.31 orphanet , disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1 disease C3711381 GeneticVariation 0.03 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids TYROBP disease C3711381 Biomarker 0.01 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids MAPT disease C3711381 GeneticVariation 0.01 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CSF2 disease C3711381 GeneticVariation 0.01 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids CTSA disease C3711381 Biomarker 0.01 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids AARS1 disease C3711381 GeneticVariation 0.01 disgenet
Hereditary Diffuse Leukoencephalopathy with Spheroids AIF1 disease C3711381 Biomarker 0.01 disgenet
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