EFNB1, ephrin B1, 1947

N. diseases: 134; N. variants: 19
Disease: Diaphragmatic Hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.020 GeneticVariation phenotype BEFREE A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 20734337 2010
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia 		0.020 GeneticVariation phenotype BEFREE Although the clinical phenotypes of the patients were not highly suggestive of a phenotype-genotype correlation, the two female patients were diagnosed with diaphragmatic hernia harbouring putative ephrin-B1 truncating mutations. 18043713 2008