MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 GeneticVariation disease BEFREE Common phenotypes of MYRF de novo variant carriers include CDH, congenital heart disease and genitourinary abnormalities, suggesting that it represents a novel syndrome. 30532227 2018
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.110 CausalMutation disease CLINVAR