CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital anomaly of the kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.030 GeneticVariation group BEFREE Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). 27488005 2016
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.030 GeneticVariation group BEFREE CUAVD is important because of its association with renal anomalies and cystic fibrosis transmembrane conductance regulator gene mutations. 12475673 2002
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		0.030 Biomarker group BEFREE CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies. 8627844 1996