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: C0162429
Disease: Malnutrition
Malnutrition
0.060 GeneticVariation disease BEFREE She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test. 29115094 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.060 GeneticVariation disease BEFREE Additionally, abnormalities in the cystic fibrosis transmembrane conductance regulator protein lead to other systemic complications including malnutrition, diabetes and subfertility.Five classes of mutation have been described, depending on the impact of the mutation on the processing of the cystic fibrosis transmembrane conductance regulator protein in the cell. 28102546 2017
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.060 Biomarker disease BEFREE CF is caused by abnormalities in the gene that codes for the cystic fibrosis transmembrane conductance regulator protein (CFTR) and may result in severe chronic lung disease, poor growth, and malnutrition. 21727111 2011
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.060 Biomarker disease BEFREE Discovering lower IGF1 levels in newborn pigs and humans indicates that the decrease is not solely a consequence of malnutrition or pulmonary inflammation and that loss of cystic fibrosis transmembrane conductance regulator function has a more direct effect. 21059918 2010
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.060 Biomarker disease BEFREE Hepatobiliary abnormalities in CF vary in nature and range from defects attributable to the underlying CFTR gene defect to those related to systemic disease and malnutrition. 20955961 2010
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.060 GeneticVariation disease BEFREE Malnutrition was observed in 58.7% of patients with a severe CFTR genotype but in 28.6% of patients with a mild genotype (P<0.001). 15367921 2005