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: 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: 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: 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
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.160 GeneticVariation disease GWASCAT A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. 26034056 2015
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: C0025202
Disease: melanoma
melanoma
0.300 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.460 GeneticVariation disease BEFREE Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men. 26537068 2016
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.160 GeneticVariation disease BEFREE Association of THADA, FOXP4, GPRC6A/RFX6 genes and 8q24 risk alleles with prostate cancer in Northern Chinese men. 26537068 2016
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: 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: C1832443
Disease: Martinez-Frias Syndrome
Martinez-Frias Syndrome
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. 26264437 2015
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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.460 GeneticVariation disease BEFREE Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men. 23803082 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.160 GeneticVariation disease BEFREE Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men. 23803082 2013
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: 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: 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: 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: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
0.110 Biomarker group BEFREE Finally, we identified transcriptional changes uncovering adaptive responses to the prolonged lack of enteroendocrine hormones and leading to malabsorption and lower food efficiency ratio in Rfx6-deficient mouse intestine. 31668390 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 GeneticVariation group BEFREE Finally, we observe a significant association between the risk-associated T allele at rs339331 and increased RFX6 mRNA levels in human prostate tumors. 24390282 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.310 Biomarker group CTD_human Finally, we observe a significant association between the risk-associated T allele at rs339331 and increased RFX6 mRNA levels in human prostate tumors. 24390282 2014