Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 GeneticVariation disease BEFREE We conclude that structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia. 15635645 2005
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
0.010 GeneticVariation disease BEFREE The aim of this study was to investigate: (1) the promoter methylation status of DAPK1, RAR-β2 and MGMT in randomly selected normal cytology of the general female population; (2) the effectiveness of gene methylation in liquid-based cytology to help in the early diagnosis of HSIL; (3) the relationship between HPV infection and gene methylation. 22116316 2012
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
0.010 GeneticVariation disease BEFREE Genetic investigations have identified several gene variants that cause RA, including <i>EYA1</i>, <i>LHX1</i>, and <i>WT1</i> However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. 28739660 2017
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
0.010 GeneticVariation phenotype BEFREE Mutations in the E-domain of RAR portion of the PML/RAR chimeric gene may confer clinical resistance to all-trans retinoic acid in acute promyelocytic leukemia. 9657734 1998
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
0.010 GeneticVariation disease BEFREE In multivariate analysis, hypermethylation of GSTP1 and/or RAR-beta2 was significantly associated with patients having macroscopic SLN metastasis compared with those with microscopic or no sentinel node metastasis (odds ratio, 4.59; 95% confidence interval, 2.02-10.4; P < 0.001). 15788661 2005
Attention deficit hyperactivity disorder
0.010 GeneticVariation disease BEFREE To test the hypothesis that genetic variants of the retinoid receptor genes may predispose to schizophrenia and other psychiatric diseases, the six RAR and RXR genes and a heterodimer partner, the NURR1 gene, were scanned in 100 schizophrenia patients, along with pilot studies in 20-24 patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism. 15635645 2005
Congenital absence of kidneys syndrome
0.010 GeneticVariation disease BEFREE Genetic investigations have identified several gene variants that cause RA, including <i>EYA1</i>, <i>LHX1</i>, and <i>WT1</i> However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. 28739660 2017
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
0.010 GeneticVariation disease BEFREE Genetic investigations have identified several gene variants that cause RA, including <i>EYA1</i>, <i>LHX1</i>, and <i>WT1</i> However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. 28739660 2017
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS
0.010 GeneticVariation disease BEFREE The NPM-RAR fusion protein associated with the t(5;17) variant of APL does not interact with PML. 16504291 2006
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation group BEFREE Multivariate Cox regression analysis identified 7 factors that independently predicted short survival in t-MDS: age ≥ 65 years (hazard ratio [HR], 1.63), Eastern Cooperative Oncology Group performance status 2-4 (HR, 1.86), poor cytogenetics (-7 and/or complex; HR, 2.47), World Health Organization MDS subtype (RARs or RAEB-1/2; HR, 1.92), hemoglobin (< 11 g/dL; HR, 2.24), platelets (< 50 × 10(9)/dL; HR, 2.01), and transfusion dependency (HR, 1.59). 24875590 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 Biomarker disease BEFREE Indeed, subsequent basic and clinical studies showed that chromosomal translocation involving the RARalpha gene is the cytogenetic hallmark of APL and that these mutant forms of RARs are the oncogenes in APL that interfere with the proliferation and differentiation pathways controlled by both RAR and their fusion partners. 11704848 2001
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 Biomarker disease BEFREE Southern genomic analysis demonstrated re-arrangements of the retinoic acid receptor varies; is directly proportional to (RAR varies; is directly proportional to) and PML genes in the APL blasts at presentation but not in the M2 ANLL marrow at relapse. 7832190 1995
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 Biomarker disease BEFREE The RARA sequences are the same as the RARA sequences found in the PML-RAR and PLZF-RAR fusion seen in t(15;17) and t(11;17) APL, respectively. 8562957 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE RAR-beta2 re-expression causes reversal of transformation, cell cycle arrest, and restoration of retinoid sensitivity.RAR-beta2 is thus a tumor suppressor. 15766561 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE A growing body of evidence supports the hypotheses that retinoic acid receptor beta2 (RAR beta2) is a tumor suppressor gene. 11141504 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE A growing body of evidence supports the hypothesis that the retinoic acid receptor beta2 (RAR-beta2) gene is a tumor suppressor gene which induces apoptosis and that the chemopreventive and therapeutic effects of retinoids are due to induction of RAR-beta2. 11501579 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Immunohistochemical analysis of RARbeta protein in 15 breast carcinoma patients harboring unmethylated RAR bin tumors and serum DNA showed the expression of RARbeta protein in tumors and paired normal breast tissues, confirming the MSP findings, suggesting that RARbeta promoter is functional in these cases. 17998817 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In ALDH<sup>+</sup>CD24<sup>-</sup>CD44<sup>+</sup> BCSCs, we identified P4HA2, PTGR1 and RAB40B as potential prognostic markers, which were virtually related to the status of BCSCs and tumor growth in TNBC cells. 29471829 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE RAR-beta2, one of three human RAR-beta isoforms (RAR-beta1, RAR-beta2, RAR-beta4), is silenced in many tumors and acts as a tumor suppressor. 17608728 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Of the three RAR receptors (alpha, beta, and gamma), RARbeta has been considered a tumor suppressor gene. 15604252 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Quantitative methylation-specific PCR (qMSP) was performed using a selected tumor-related gene panel for RAR-ss2, MGMT, RASSF1A, and APC. 17108214 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 Biomarker disease BEFREE The methylation rate of RAR-β2 in breast cancer and precancerous lesions of breast cancer were higher than that of normal tissues. 20865461 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 Biomarker disease BEFREE Finally, we demonstrate that Rab40b is also required for breast cancer cell invasion in vitro. 23902685 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.080 Biomarker disease BEFREE Five lines of evidence suggest that melatonin works via epigenetic processes: (1) melatonin influences transcriptional activity of nuclear receptors (ERalpha, GR and RAR) involved in the regulation of breast cancer cell growth; (2) melatonin down-regulates the expression of genes responsible for the local synthesis or activation of estrogens including aromatase, an effect which may be mediated by methylation of the CYP19 gene or deacetylation of CYP19 histones; (3) melatonin inhibits telomerase activity and expression induced by either natural estrogens or xenoestrogens; (4) melatonin modulates the cell cycle through the inhibition of cyclin D1 expression; (5) melatonin influences circadian rhythm disturbances dependent on alterations of the light/dark cycle (i.e., light at night) with the subsequent deregulation of PER2 which acts as a tumor suppressor gene. 18592373 2009