FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Paraesophageal hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267725
Disease: Paraesophageal hernia
Paraesophageal hernia 		0.010 GeneticVariation phenotype BEFREE However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. 25736269 2015