Disease: Esophageal Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.040 GeneticVariation disease BEFREE Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. 25387991 2015
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.040 GeneticVariation disease BEFREE Recently, the EFTUD2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. 23695276 2014
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.040 GeneticVariation disease BEFREE Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. 23879989 2013
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		0.040 GeneticVariation disease BEFREE No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS). 23188108 2012