EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
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: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		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: rs779003155
rs779003155
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201 2010
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201 2010
dbSNP: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201 2010
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653 2017
dbSNP: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653 2017
dbSNP: rs779003155
rs779003155
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0031900
Disease:
Pierre Robin Syndrome 		T 0.700 CausalMutation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs1131692261
rs1131692261
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026650
Disease:
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
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia 		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