Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
0.020 GeneticVariation BEFREE Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. 29312905 2017
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
0.020 GeneticVariation BEFREE We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. 23534934 2014