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: 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: C1697450
Disease:
obsolete Prominent epicanthal folds 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1866195
Disease:
Downturned corners of mouth 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4012968
Disease:
Mild global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4551492
Disease:
Micropenis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0221358
Disease:
Long narrow head 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1854882
Disease:
Absent speech 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0431447
Disease:
Synophrys 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C2267233
Disease:
Neonatal Hypotonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1844820
Disease:
Range of joint movement increased 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1865014
Disease:
Long philtrum 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0014877
Disease:
Esotropia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519389
rs1057519389
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0015310
Disease:
Exotropia 		T 0.700 CausalMutation CLINVAR