EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Pierre Robin Syndrome ×
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: 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: C0031900
Disease:
Pierre Robin Syndrome 		T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017