CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Echogenic Bowel ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		0.030 Biomarker disease BEFREE These highly efficient tests, scanning each sample in a few days, greatly improve the genotyping of patients with CFTR-related symptoms and may be particularly important in emergency situations such as fetus with hyperechogenic bowel suggestive of cystic fibrosis. 17975025 2007
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		0.030 GeneticVariation disease BEFREE Hyperechogenic bowel is highly indicative of a CFTR gene mutation. 16378323 2006
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		0.030 GeneticVariation disease BEFREE A hypothetical cohort of 1000 women with singleton pregnancies and echogenic fetal bowel during the second trimester was used to determine the probability of cystic fibrosis when one cystic fibrosis transmembrane conductance regulator mutation was detected. 10576193 1999