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: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0004134
Disease: Ataxia
Ataxia 		A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0004134
Disease: Ataxia
Ataxia 		T 0.700 CausalMutation 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 Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. 19627984

2009
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0234860
Disease: Weak cry
Weak cry 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1854882
Disease: Absent speech
Absent speech 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026827
Disease: Muscle hypotonia
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
EBF3
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026827
Disease: Muscle hypotonia
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
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		T 0.700 CausalMutation 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 Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0040485
Disease: Torticollis
Torticollis 		A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C4551492
Disease: Micropenis
Micropenis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		A 0.700 CausalMutation 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 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: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		T 0.700 CausalMutation CLINVAR