RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.340 GeneticVariation disease BEFREE Genetic testing for RFX6 mutations should be considered in patients presenting with intestinal atresias in the absence of neonatal diabetes. 26264437 2015
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.340 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
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.340 GeneticVariation disease BEFREE When the particular phenotype of MFS includes a mutation on the RFX6 gene and neonatal diabetes, it has been called Mitchell-Riley syndrome. 25421130 2014
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.340 GeneticVariation disease BEFREE Mutations in the RFX6 gene were recently described to underlie a distinct autosomal recessive syndrome of neonatal diabetes comprising intestinal atresia and hepatobiliary abnormalities. 21965172 2011
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
0.340 Biomarker disease GENOMICS_ENGLAND