Gene: EBF2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64641
Gene Symbol: EBF2
EBF2 		0.310 Biomarker disease GENOMICS_ENGLAND We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). 29704291 2018
Entrez Id: 64641
Gene Symbol: EBF2
EBF2 		0.310 GeneticVariation disease BEFREE We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). 29704291 2018