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: C0011991
Disease: Diarrhea
Diarrhea 		0.110 GeneticVariation phenotype BEFREE Further study of patients with RFX6 mutations should clarify its role in pancreatic, intestinal and enteroendocrine cellular development and explain features such as the diarrhea exhibited in our case. 23914949 2014
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.460 GeneticVariation disease GWASDB Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. 20676098 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.160 GeneticVariation disease GWASCAT Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. 20676098 2010
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 Biomarker disease BEFREE However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. 26761945 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 Biomarker group BEFREE However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. 26761945 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.460 Biomarker disease BEFREE HOXB13, RFX6 and prostate cancer risk. 24473320 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.160 Biomarker disease BEFREE HOXB13, RFX6 and prostate cancer risk. 24473320 2014
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE In addition we review the clinical and molecular features of all RFX6 mutated cases to better characterize the syndrome. 21965172 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.460 GeneticVariation disease BEFREE In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P(GC) = 3.9 x 10(-18)), GPRC6A/RFX6 (P(GC) = 1.6 x 10(-12)), 13q22 (P(GC) = 2.8 x 10(-9)), C2orf43 (P(GC) = 7.5 x 10(-8)) and FOXP4 (P(GC) = 7.6 x 10(-8)). 20676098 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.160 GeneticVariation disease BEFREE In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P(GC) = 3.9 x 10(-18)), GPRC6A/RFX6 (P(GC) = 1.6 x 10(-12)), 13q22 (P(GC) = 2.8 x 10(-9)), C2orf43 (P(GC) = 7.5 x 10(-8)) and FOXP4 (P(GC) = 7.6 x 10(-8)). 20676098 2010
CUI: C0266153
Disease: Ectopic gastric tissue
Ectopic gastric tissue 		0.010 GeneticVariation disease BEFREE In the embryonic intestine, the constitutive lack of Rfx6 leads to gastric heterotopia, suggesting a role in the maintenance of intestinal identity. 31668390 2019
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.160 GeneticVariation disease GWASCAT Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer. 26443449 2015
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: 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: C1832443
Disease: Martinez-Frias Syndrome
Martinez-Frias Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. 15592663 2004
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.020 GeneticVariation disease BEFREE Our study demonstrates that heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes.Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY. 29026101 2017
CUI: C0266175
Disease: Jejunal Atresia
Jejunal Atresia 		0.110 GeneticVariation disease BEFREE Recently, bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary hypoplasia and duodenal/jejunal atresia. 23914949 2014
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 GeneticVariation disease UNIPROT RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. 25497100 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Suppression of RFX6 diminishes prostate cancer cell proliferation, migration and invasion. 24390282 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 AlteredExpression disease BEFREE The later onset of diabetes in these patients may be due to incomplete inactivation of RFX6. 26264437 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 AlteredExpression group BEFREE The later onset of diabetes in these patients may be due to incomplete inactivation of RFX6. 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