Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. 28487885

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201

2010
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. 19627984

2009