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: C2675627
Disease: Acholic stool
Acholic stool 		0.100 Biomarker phenotype HPO
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: C0149955
Disease: Annular pancreas
Annular pancreas 		0.100 Biomarker disease HPO
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.300 Biomarker group GENOMICS_ENGLAND Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 26264437 2015
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: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.100 Biomarker disease HPO
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: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		0.100 CausalMutation group CLINVAR
CUI: C0012241
Disease: Congenital anomaly of gastrointestinal tract
Congenital anomaly of gastrointestinal tract 		0.100 GeneticVariation group CLINVAR
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas 		0.100 Biomarker disease HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
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: 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 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: 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: 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 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
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 Biomarker group BEFREE Rfx6 could prove useful in efforts to generate beta-cells for patients with diabetes. 20148032 2010
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: 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: 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