rs142920240, CFTR

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
0.010 GeneticVariation BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012
Failure to thrive in infant
CUI: C3887638
Disease: Failure to thrive in infant
0.010 GeneticVariation BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.010 GeneticVariation BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
0.010 GeneticVariation BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.010 GeneticVariation BEFREE M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism. 15614862 2004