EBF2, EBF transcription factor 2, 64641

N. diseases: 27; N. variants: 12
Disease: Anus, Imperforate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		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
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		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