Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 GeneticVariation disease BEFREE Thirteen pts had Acute Promyelocytic Leukemia (APL) with rearrangements of the RAR-a and PML genes, 8 BCR rearranged (BCR+)/Ph+ Chronic Myeloid Leukemia (CML) and 3 BCR+/Ph+ Acute Lymphoid Leukemia (ALL). 8152281 1994
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 GeneticVariation disease BEFREE These observations suggest that in APL, the t(15;17) translocation generates an RAR mutant that could contribute to leukemogenesis through interference with promyelocytic differentiation. 1652369 1991
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 GeneticVariation disease BEFREE Acute Promyelocytic Leukemia (APL) with break points in the (RAR) gene and the zyl gene also produces a fusion transcript. 8251913 1993
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.100 GeneticVariation disease 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE A growing body of evidence supports the hypotheses that the retinoic acid receptor beta2 (RAR-beta2) gene is a tumor suppressor gene and that the chemopreventive effects of retinoids are due to induction of RAR-beta2. 10814678 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Hypermethylation of the CDH1 was significantly associated with primary breast tumors demonstrating lymphovascular invasion (P = 0.008), infiltrating ductal histology (P = 0.03), and negative for the estrogen receptor (P = 0.005), whereas RASSF1A and RAR-beta2 gene hypermethylation were significantly more common in estrogen receptor-positive (P < 0.001) and human epidermal growth factor receptor 2-positive (P < 0.001) tumors, respectively. 15788661 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The RAR-beta2 gene from non-neoplastic cervical tissues was mostly unmethylated and expressed, but methylated alleles of the gene were found in three samples of the morphologically normal tissues adjacent to the tumors. 11945179 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 GeneticVariation phenotype BEFREE Methylation of the RAR-beta2 gene may be an initial step in breast carcinogenesis; treatment of cancer patients with demethylating agents followed by retinoic acid may offer a new therapeutic modality. 10814678 2000
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.040 GeneticVariation phenotype 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
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.040 GeneticVariation phenotype BEFREE Hypermethylation of the CDH1 was significantly associated with primary breast tumors demonstrating lymphovascular invasion (P = 0.008), infiltrating ductal histology (P = 0.03), and negative for the estrogen receptor (P = 0.005), whereas RASSF1A and RAR-beta2 gene hypermethylation were significantly more common in estrogen receptor-positive (P < 0.001) and human epidermal growth factor receptor 2-positive (P < 0.001) tumors, respectively. 15788661 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation disease BEFREE The rest changed greatly in the methylation pattern in colorectal cancer (CRC): cyclin A1 (cyclin a1) (100%, 65/65), caudal type homeobox transcription factor 1 (CDX1) (100%, 65/65), RAR- (85%, 55/65), myogenic factor 3 (MYOD1) (69%, 45/65), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (p15(INK4b)) (68%, 44/65), prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (COX2) (72%, 47/65), cadherin 13, H-cadherin (heart) (CDH13) (65%, 42/65), CAAX box 1 (CXX1) (58%, 38/65), tumor protein p73 (p73) (63%, 41/65) and Wilms tumor 1 (WT1) (58%, 38/65). 15526363 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 GeneticVariation disease BEFREE These observations suggest that in APL, the t(15;17) translocation generates an RAR mutant that could contribute to leukemogenesis through interference with promyelocytic differentiation. 1652369 1991
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.020 GeneticVariation disease BEFREE Our results indicate that methylation of APC, RARβ and Survivin gene promoters is a common finding in patients with bladder carcinoma. 22992440 2012
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
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
CUI: C0004352
Disease: Autistic Disorder
Autistic 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar 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
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality 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
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
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
CUI: C0019112
Disease: Hemorrhoids
Hemorrhoids
0.010 GeneticVariation disease BEFREE All consecutive patients with symptomatic haemorrhoids who were treated with the HAL-RAR procedure between February 2008 and February 2014 in a single institution were included in the study. 31264350 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.010 GeneticVariation disease BEFREE Thirteen pts had Acute Promyelocytic Leukemia (APL) with rearrangements of the RAR-a and PML genes, 8 BCR rearranged (BCR+)/Ph+ Chronic Myeloid Leukemia (CML) and 3 BCR+/Ph+ Acute Lymphoid Leukemia (ALL). 8152281 1994
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 GeneticVariation group BEFREE The NPM sequences contained in the shorter NPM-RAR cDNA are identical to the NPM sequences contained in the NPM-ALK fusion gene expressed in t(2;5) lymphomas. 8562957 1996
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
0.010 GeneticVariation disease BEFREE RAR genes were associated with risk for MM. 21254357 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 GeneticVariation disease BEFREE The rest changed greatly in the methylation pattern in colorectal cancer (CRC): cyclin A1 (cyclin a1) (100%, 65/65), caudal type homeobox transcription factor 1 (CDX1) (100%, 65/65), RAR- (85%, 55/65), myogenic factor 3 (MYOD1) (69%, 45/65), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (p15(INK4b)) (68%, 44/65), prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (COX2) (72%, 47/65), cadherin 13, H-cadherin (heart) (CDH13) (65%, 42/65), CAAX box 1 (CXX1) (58%, 38/65), tumor protein p73 (p73) (63%, 41/65) and Wilms tumor 1 (WT1) (58%, 38/65). 15526363 2004
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.010 GeneticVariation disease BEFREE Genome-wide mapping of epidermal 5-hmC in murine psoriasis revealed loci-specific loss of 5-hmC in genes regulating stem cell homeostasis, including MBD1, RTN1, STRN4, PRKD2, AKT1, MAPKAP2, as well as those associated with RAR and Wnt/β-catenin signaling pathways. 31837302 2019