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: 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: rs779003155
rs779003155
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 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: 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: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
G 0.800 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519518
rs1057519518
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519518
rs1057519518
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519519
rs1057519519
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519519
rs1057519519
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519520
rs1057519520
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.800 GeneticVariation UNIPROT
dbSNP: rs1057519520
rs1057519520
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs779003155
rs779003155
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0038273
Disease:
Stereotypic Movement Disorder
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
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: C1843367
Disease:
Poor school performance
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0454641
Disease:
Expressive language delay
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0004134
Disease:
Ataxia
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0566899
Disease:
Small labia majora
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017