Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Biology and action of colony--stimulating factor-1. | 8981357 | 1997 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | MRI characteristics and scoring in HDLS due to CSF1R gene mutations. | 22843259 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. | 24145216 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | CSF1R mutations link POLD and HDLS as a single disease entity. | 23408870 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? | 19487654 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Hereditary diffuse leucoencephalopathy with spheroids. | 6595937 | 1984 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. | 18794495 | 2008 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? | 19487654 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. | 24145216 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. | 23649896 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Hereditary diffuse leucoencephalopathy with spheroids. | 6595937 | 1984 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. | 24336230 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. | 23411710 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? | 19487654 | 2009 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. | 24336230 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Hereditary diffuse leucoencephalopathy with spheroids. | 6595937 | 1984 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. | 23816250 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | MRI characteristics and scoring in HDLS due to CSF1R gene mutations. | 22843259 | 2012 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Update of the original HDLS kindred: divergent clinical courses. | 22098561 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Update of the original HDLS kindred: divergent clinical courses. | 22098561 | 2012 | |||||
Multiple congenital anomalies
|
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
|
0.700 | CausalMutation | CLINVAR | CSF1R mutations link POLD and HDLS as a single disease entity. | 23408870 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | MRI characteristics and scoring in HDLS due to CSF1R gene mutations. | 22843259 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. | 18794495 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. | 23816250 | 2013 |