rs397508638, CFTR

N. diseases: 9
Disease: Gastrointestinal symptom ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal symptom
CUI: C0426576
Disease: Gastrointestinal symptom
0.010 GeneticVariation BEFREE The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs. 1283148 1992