RFX4, regulatory factor X4, 5992

N. diseases: 8; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 GeneticVariation disease BEFREE One haplotype in RFX4_v3 gene is linked to a higher risk of bipolar disorder, suggesting that this protein might contribute to the pathogenesis of the disease. 17510980 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease PSYGENET One haplotype in RFX4_v3 gene is linked to a higher risk of bipolar disorder, suggesting that this protein might contribute to the pathogenesis of the disease. 17510980 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 AlteredExpression disease LHGDN The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23. 15940297 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease BEFREE The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23. 15940297 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease PSYGENET The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23. 15940297 2005
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease BEFREE Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p < 10(-3) using single trait analysis and AD. 21547531 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease PSYGENET Interestingly, several genes (TESK2, TIPARP, THEMIS, ABLIM1, RFX4, STON2 and LILRA1) are associated with three personality traits with p < 10(-3) using single trait analysis and AD. 21547531 2012
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASDB Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		0.010 GeneticVariation disease BEFREE Heterozygous deletion of Rfx4 resulted in severe, non-communicating congenital hydrocephalus associated with hypoplasia of the subcommissural organ. 29298325 2018
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.010 Biomarker disease BEFREE Homozygous deletion of Rfx4 resulted in formation of a single ventricle in the forebrain, and severe dorsoventral patterning defects in the telencephalon and midbrain at embryonic day 12.5, a collection of phenotypes that resembled human holoprosencephaly. 29298325 2018
CUI: C0152424
Disease: Common ventricle
Common ventricle 		0.010 GeneticVariation disease BEFREE Homozygous deletion of Rfx4 resulted in formation of a single ventricle in the forebrain, and severe dorsoventral patterning defects in the telencephalon and midbrain at embryonic day 12.5, a collection of phenotypes that resembled human holoprosencephaly. 29298325 2018
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		0.010 GeneticVariation disease BEFREE Homozygous deletion of Rfx4 resulted in formation of a single ventricle in the forebrain, and severe dorsoventral patterning defects in the telencephalon and midbrain at embryonic day 12.5, a collection of phenotypes that resembled human holoprosencephaly. 29298325 2018