Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.040 Biomarker group BEFREE Deletion of CFTR in pigs (CFTR <sup>-/-</sup> pigs) displays at birth severe malformations similar to humans in the intestine, respiratory tract, pancreas, liver, and male reproductive tract. 31787573 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.040 GeneticVariation group BEFREE Our findings may broaden the mutation spectrum of CFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant in trans of CFTR can cause vas deferens malformation. 31709488 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.040 AlteredExpression group BEFREE The homozygous CFTR mutants lack CFTR protein expression and display severe malformations in the intestine, respiratory tract, pancreas, liver, gallbladder, and male reproductive tract. 22170306 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.040 GeneticVariation group BEFREE Cystic fibrosis (CF), an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is not generally associated with malformations of the central nervous system (CNS). 12415481 2003