RORA, RAR related orphan receptor A, 6095

N. diseases: 10; N. variants: 36
Source: CURATED ×
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 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: 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 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: 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: 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 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 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 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.320 Biomarker disease CTD_human Methylation status of the 32 randomly selected and 16 potential tumor-related genes was analyzed in 10 primary gastric cancers, and 42 genes (ABHD9, ADFP, ALDH1A3, ANXA5, AREG, BDNF, BMP7, CAV1, CDH2, CLDN3, CTSL, EEF1A2, F2R, FADS1, FSD1, FST, FYN, GPR54, GREM1, IGFBP3, IGFBP7, IRS2, KISS1, MARK1, MLF1, MSX1, MTSS1, NT5E, PAX6, PLAGL1, PLAU, PPIC, RBP4, RORA, SCRN1, TBX3, TFAP2C, TNFSF9, ULBP2, WIF1, ZNF177 and ZNF559) were methylated in at least one primary gastric cancer. 16367923 2006
CUI: C0085159
Disease: Seasonal Affective Disorder
Seasonal Affective Disorder 		0.310 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease CTD_human We further show that aromatase protein is significantly reduced in the frontal cortex of autistic subjects relative to sex- and age-matched controls, and is strongly correlated with RORA protein levels in the brain. 21359227 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.310 Biomarker disease CTD_human Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. 20375269 2010
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human Chemical genomic screening for methylation-silenced genes in gastric cancer cell lines using 5-aza-2'-deoxycytidine treatment and oligonucleotide microarray. 16367923 2006
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human Chemical genomic screening for methylation-silenced genes in gastric cancer cell lines using 5-aza-2'-deoxycytidine treatment and oligonucleotide microarray. 16367923 2006