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: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 AlteredExpression disease BEFREE In this context, we studied the role of the transcription factor Rfx6 which had been identified as the cause of Mitchell-Riley syndrome, characterized by neonatal diabetes and congenital malabsorptive diarrhea. 31668390 2019
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease BEFREE After other gene testing was negative, the clinical diagnosis of Mitchell-Riley syndrome was ultimately considered and further genetic analysis revealed a novel missense homozygous variant in RFX6: c.983A>T (p.asp328Val). 31275908 2019
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease BEFREE This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene. 26761945 2016
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease BEFREE We describe Mitchell-Riley syndrome in two sisters with two novel compound heterozygous variants in the RFX6 gene: c.1154G > A, p.(Arg385Gln), and c.1316_1319delTCTA, p.(Ile439Thrfs*13). 27523286 2016
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population. 27167055 2016
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes. 25048417 2015
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. 26264437 2015
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. 26264437 2015
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease UNIPROT RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. 25497100 2014
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GermlineCausalMutation disease ORPHANET Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. 21965172 2011
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease BEFREE Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects. 21215266 2011
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease UNIPROT Rfx6 directs islet formation and insulin production in mice and humans. 20148032 2010
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 CausalMutation disease CLINVAR
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 Biomarker disease CTD_human
CUI: C2748662
Disease: Mitchell-Riley Syndrome
Mitchell-Riley Syndrome
0.750 GeneticVariation disease CLINVAR