rs267606723, CFTR

N. diseases: 5
Disease: Enterocutaneous Fistula ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Enterocutaneous Fistula
CUI: C0341318
Disease: Enterocutaneous Fistula
0.010 GeneticVariation BEFREE The p.Gly1244Glu mutation homozygous patient, who had undergone an ileal resection with ileostomy and enterocutaneous fistula, did not respond clinically to ivacaftor and did not modify his sweat test. 27659740 2017