CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.120 Biomarker disease BEFREE In addition, chronic inflammation characteristic of CF may contribute to growth failure via alteration in the GH-insulin-like growth factor 1 signaling and other changes in the growth plate. rhGH and new CFTR modulators may improve some growth parameters. 31815786 2020
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.120 GeneticVariation disease BEFREE Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration? 22274833 2012
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.120 Biomarker disease HPO