Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
0.010 GeneticVariation disease BEFREE The phenotype of neonatal diabetes with intestinal atresia and biliary agenesis clearly pointed to RFX6 as the causative gene; indeed, whole exome sequencing revealed a novel homozygous RFX6 mutation c.779A>C; p.Lys260Thr (K260T). 23914949 2014