EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
0.100 CausalMutation disease CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
0.100 CausalMutation disease CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017