RARG, retinoic acid receptor gamma, 5916

N. diseases: 62; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0876994
Disease: Cardiotoxicity
Cardiotoxicity
0.400 GeneticVariation disease GWASCAT A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. 26237429 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 GeneticVariation disease UNIPROT
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
0.110 GeneticVariation disease GWASCAT A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. 26237429 2015
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
0.110 GeneticVariation disease BEFREE A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. 26237429 2015
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023418
Disease: leukemia
leukemia
0.040 GeneticVariation disease BEFREE Critical role of retinoid/rexinoid signaling in mediating transformation and therapeutic response of NUP98-RARG leukemia. 25510432 2015
CUI: C0023418
Disease: leukemia
leukemia
0.040 GeneticVariation disease BEFREE RARA and RARG gene downregulation associated with EZH2 mutation in acute promyelocytic-like morphology leukemia. 29530751 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE We hypothesize a novel mechanism of EZH2 function alteration, which may be responsible for an acute myeloid leukemia with APL-like phenotype featuring dysregulation of the RARA and RARG genes. 29530751 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 GeneticVariation disease BEFREE Critical role of retinoid/rexinoid signaling in mediating transformation and therapeutic response of NUP98-RARG leukemia. 25510432 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 GeneticVariation disease BEFREE RARA and RARG gene downregulation associated with EZH2 mutation in acute promyelocytic-like morphology leukemia. 29530751 2018
Fibrodysplasia Ossificans Progressiva
0.020 GeneticVariation disease BEFREE In addition, an RAR-γ agonist blocked heterotopic ossification in transgenic mice expressing activin receptor-like kinase-2 (ALK2) Q207D, a constitutively active form of the receptor that is related to ALK2 R206H found in individuals with fibrodysplasia ossificans progressiva. 21460849 2011
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation disease BEFREE Currently, pharmacogenomic testing of all childhood cancer patients with an indication for doxorubicin or daunorubicin therapy for RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 variants is recommended. 29713898 2018
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
0.010 GeneticVariation disease BEFREE We have examined two families with this type of palmoplantar keratoderma and localized the causative genetic defect to a 14 cM interval on chromosome 12q11-q13, a region known to contain the keratin type II gene cluster as well as the retinoic acid receptor gamma gene. 7531539 1994
CUI: C0876994
Disease: Cardiotoxicity
Cardiotoxicity
0.400 Biomarker disease CTD_human A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. 26237429 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.330 Biomarker disease BEFREE Potential role for retinoic acid receptor-gamma in the inhibition of breast cancer cells by selective retinoids and interferons. 8603404 1996
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.300 Biomarker disease CTD_human Retinoic acid drives aryl hydrocarbon receptor expression and is instrumental to dioxin-induced toxicity during palate development. 21807577 2011
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.300 Biomarker group CTD_human A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. 26237429 2015
Congenital musculoskeletal anomalies
0.300 Biomarker group CTD_human Contribution of retinoic acid receptor gamma to retinoid-induced craniofacial and axial defects. 9142499 1997
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.300 Biomarker disease CTD_human Retinoic acid drives aryl hydrocarbon receptor expression and is instrumental to dioxin-induced toxicity during palate development. 21807577 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Collectively, our results defined RARγ as tumor suppressor in colorectal cancer that acts by restricting oncogenic signaling by the Hippo-Yap pathway, with potential implications for new approaches to colorectal cancer therapy. 27325643 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE We recently demonstrated that retinoic acid receptor-γ (RARγ) is overexpressed and acts as a tumor promoter in hepatocellular carcinoma (HCC). 28336971 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE In addition, some genes were up-regulated, including matrix metalloproteinse 2(MMP-2), MMP-16(MT3-MMP), SKY, CD9 and semaphorin V. A number of genes were down-regulated, including neuroendocrine-dlg (NE-dlg), retinoic acid receptor gamma and tumor suppressor DCC colorectal. 12174360 2002
CUI: C0023418
Disease: leukemia
leukemia
0.040 Biomarker disease LHGDN A redundant oncogenic potential of the retinoic receptor (RAR) alpha, beta and gamma isoforms in acute promyelocytic leukemia. 17252005 2007