EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME ×
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: rs1057519437
rs1057519437
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs1057519521
rs1057519521
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519522
rs1057519522
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554904330
rs1554904330
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554934855
rs1554934855
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564927062
rs1564927062
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		AG 0.700 GeneticVariation CLINVAR