RORA, RAR related orphan receptor A, 6095

N. diseases: 158; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748041
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 		0.500 GeneticVariation disease UNIPROT Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. 29656859 2018
CUI: C4748041
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 		0.500 Biomarker disease GENOMICS_ENGLAND Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. 29656859 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. 29656859 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group GENOMICS_ENGLAND Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. 29656859 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group BEFREE It is for the first time we report that the molecular mechanism of actions of melatonin and plant adaptogens are alike, all adaptogens tested activated the melatonin signaling pathway by acting through two G-protein-coupled membrane receptors MT1 and MT2 and upregulation of the ligand-specific nuclear receptor RORA, which plays a role in intellectual disability, neurological disorders, retinopathy, hypertension, dyslipidemia, and cancer, which are common in aging. 30466987 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 GeneticVariation disease BEFREE In secondary analyses, HTR2A (rs643627, p = 0.002) and CHL1 (rs4003413, p = 0.002) were found associated with risk for BD, HOMER1 (rs6872497, p = 0.002) with lifetime history of suicide attempt in patients, and RORA with early onset and presence of psychotic features in BD. 30178121 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 GeneticVariation disease BEFREE Recent studies have reported associations of retinoid-related orphan receptor alpha (<i>RORA</i>) gene single nucleotide polymorphisms (SNPs) with depression and anxiety disorders. 29073752 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 GeneticVariation disease BEFREE The current study aimed to investigate the relationships between genetic variants in NR1D1 RORA, and RORB genes and BD in the Han Chinese population. 25789810 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 Biomarker disease PSYGENET Altogether, these findings suggest that these variants in the TIMELESS and RORA genes may confer susceptibility to BD and impact on circadian phenotypes in carriers who thus had lower ability to properly adapt to external cues. 24716566 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 GeneticVariation disease BEFREE Altogether, these findings suggest that these variants in the TIMELESS and RORA genes may confer susceptibility to BD and impact on circadian phenotypes in carriers who thus had lower ability to properly adapt to external cues. 24716566 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 Biomarker disease PSYGENET Analysis of clock gene variants revealed that PER3 and RORA genotype predicted period lengthening by Li, whereas GSK3β genotype predicted rhythm effects of Li, specifically among BD cases. 24150227 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 Biomarker disease PSYGENET The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression. 22538398 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 GeneticVariation disease BEFREE The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression. 22538398 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 Biomarker disease PSYGENET The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression. 22538398 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 GeneticVariation disease BEFREE The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (rs2287161) associate with depressive disorder, those of RORB (rs7022435, rs3750420, rs1157358, rs3903529) and NR1D1 (rs2314339) with bipolar disorder, and those of NPAS2 (rs11541353) and CRY2 (rs10838524) with seasonal affective disorder or winter depression. 22538398 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 Biomarker disease PSYGENET Genetic and metabolic characterization of insomnia. 21494683 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.340 Biomarker disease PSYGENET We examined 209 single-nucleotide polymorphisms (SNPs) covering 19 circadian genes (ADCYAP1, ARNTL, ARNTL2, BHLHB2, BHLHB3, CLOCK, CRY1, CRY2, CSNK1E, DBP, NPAS2, NR1D1, PER1, PER2, PER3, RORA, TIMELESS, VIP, and VIPR2) in a sample of 534 MD patients (335 with unipolar major mood depression (MDD) and 199 with bipolar disorder (BD)) and 440 community-based screened controls. 20072116 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 Biomarker disease PSYGENET Meta-analytic results for genotyped or imputed single nucleotide polymorphisms indicate that the strongest association signals for trait depression were found in RORA (rs12912233; p = 6 × 10⁻⁷), a gene involved in circadian rhythm. 20800221 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 Biomarker disease BEFREE Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability. 19693801 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 GeneticVariation disease BEFREE Meta-analytic results for genotyped or imputed single nucleotide polymorphisms indicate that the strongest association signals for trait depression were found in RORA (rs12912233; p = 6 × 10⁻⁷), a gene involved in circadian rhythm. 20800221 2010
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.340 Biomarker disease PSYGENET Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability. 19693801 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 GeneticVariation disease BEFREE Recent studies have reported associations of retinoid-related orphan receptor alpha (<i>RORA</i>) gene single nucleotide polymorphisms (SNPs) with depression and anxiety disorders. 29073752 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 GeneticVariation disease BEFREE Meta-analytic results for genotyped or imputed single nucleotide polymorphisms indicate that the strongest association signals for trait depression were found in RORA (rs12912233; p = 6 × 10⁻⁷), a gene involved in circadian rhythm. 20800221 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease BEFREE Polymorphisms in the circadian genes NPAS2, ARNTL, and RORA were also suggested to contribute to depression vulnerability. 19693801 2010