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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. 31001871 2019
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE Because of this, we propose that MFS/MRS is a symptom continuum or an RFX6 malformation complex. 25421130 2014
CUI: C0000846
Disease: Agenesis
Agenesis 		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
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		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
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 AlteredExpression phenotype BEFREE Clinical data indicate that RFX6 upregulation in human prostate cancers correlates with tumor progression, metastasis and risk of biochemical relapse. 24390282 2014
CUI: C0302142
Disease: Deformity
Deformity 		0.010 Biomarker group BEFREE Because of this, we propose that MFS/MRS is a symptom continuum or an RFX6 malformation complex. 25421130 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: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 GeneticVariation disease BEFREE Two SNPs, rs12621278 in ITGA6 at 2q31 (OR = 0.82, P = 0.05) and rs339331 in RFX6 at 6q22 (OR = 1.22, P = 0.04) were significantly associated with BPH. 23620269 2013
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: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.020 GeneticVariation disease BEFREE Clinical analysis of 36 individuals suggested that RFX6 mutation-induced MODY is characterized by low penetrance and relatively late onset. 31001871 2019
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: C0011847
Disease: Diabetes
Diabetes 		0.070 GeneticVariation disease BEFREE We identified a previously reported p.Arg377Ter variant of RFX6 in a three-generation family with diabetes. 31001871 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 GeneticVariation group BEFREE We identified a previously reported p.Arg377Ter variant of RFX6 in a three-generation family with diabetes. 31001871 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 Biomarker disease BEFREE RFX6 heterozygotes have reduced penetrance of diabetes compared to common HNF1A and HNF4A-MODY mutations (27, 70 and 55% at 25 years of age, respectively). 29026101 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 Biomarker group BEFREE RFX6 heterozygotes have reduced penetrance of diabetes compared to common HNF1A and HNF4A-MODY mutations (27, 70 and 55% at 25 years of age, respectively). 29026101 2017
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: C0011847
Disease: Diabetes
Diabetes 		0.070 GeneticVariation disease BEFREE Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. 27523286 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 GeneticVariation group BEFREE Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa. 27523286 2016
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: C0011847
Disease: Diabetes
Diabetes 		0.070 GeneticVariation disease BEFREE Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes. 25048417 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 GeneticVariation group BEFREE Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes. 25048417 2015
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 Biomarker disease BEFREE Rfx6 could prove useful in efforts to generate beta-cells for patients with diabetes. 20148032 2010