RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 GeneticVariation disease CLINVAR Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 27120018 2016
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 GeneticVariation disease UNIPROT Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 27120018 2016
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 Biomarker disease GENOMICS_ENGLAND The genetic architecture of microphthalmia, anophthalmia and coloboma. 24859618 2014
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 GeneticVariation disease UNIPROT Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 24075189 2013
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 CausalMutation disease CLINVAR Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 24075189 2013
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12
0.700 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Promoter Methylation Status of the Retinoic Acid Receptor-Beta 2 Gene in Breast Cancer Patients: A Case Control Study and Systematic Review. 31798384 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Promoter Methylation Status of the Retinoic Acid Receptor-Beta 2 Gene in Breast Cancer Patients: A Case Control Study and Systematic Review. 31798384 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE Novel Clofarabine-Based Combinations with Polyphenols Epigenetically Reactivate Retinoic Acid Receptor Beta, Inhibit Cell Growth, and Induce Apoptosis of Breast Cancer Cells. 30544666 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE L1RE1 in combination with either RARB or RASSF1 could function as biomarkers for separating lung cancer and non-cancerous tissue and could be useful for samples of limited size such as biopsies. 29851970 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 AlteredExpression disease BEFREE We hence, analyzed the expression level of RAR-β gene during B(a)P induced lung cancer development in mice and studied the lung cancer targeted action of All Trans Retinoic Acid (ATRA) in DOTAP liposomal formulation. 29777906 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE Novel Clofarabine-Based Combinations with Polyphenols Epigenetically Reactivate Retinoic Acid Receptor Beta, Inhibit Cell Growth, and Induce Apoptosis of Breast Cancer Cells. 30544666 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 PosttranslationalModification disease BEFREE RARβ hypermethylation was significantly higher in adenocarcinoma (AC) compared to squamous cell carcinoma (SCC), pooled OR is 0.68 (95% CI = 0.52-0.89, p = 0.005). 28008143 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 AlteredExpression disease BEFREE The objective was to find whether it could enhance ATRA receptor, RAR-β expression in lung cells as it was lost in majority of cancers including lung cancer. 28694088 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 PosttranslationalModification disease BEFREE RARβ hypermethylation was significantly more frequently observed in adenocarcinoma (AC) than in squamous cell carcinoma (SCC), and the pooled OR was 1.47 (P=0.005). 27103788 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 PosttranslationalModification disease BEFREE In conclusion, different expression of the RARβ gene in SCC and NSCC makes the RARβ gene a valuable diagnostic marker for differentiating the NSCLC subtypes. 26453065 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 PosttranslationalModification disease BEFREE Aberrant RARβ promoter methylation has been frequently investigated in non-small-cell lung carcinoma (NSCLC), the most common form of lung cancer. 27103788 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 PosttranslationalModification disease BEFREE Gene-specific methylation of RARβ, and perhaps APC, may interact with PAH-DNA adducts to increase risk of hormone receptor-positive breast cancer. 26407953 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE The present study explored the possible associations of dietary intake of one-carbon metabolism-related nutrients with promoter hypermethylation status and expression of retinoic acid receptor-beta (RARB), breast cancer-1 (BRCA1), and Ras association domain family-1, isoform A (RASSF1A) genes in Iranian women with breast cancer (BC). 25805039 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 AlteredExpression disease BEFREE Methylation of glutathione S-transferase P1 (GSTP1), T-cadherin (CDH13), Paired box protein 5 (PAX5), death associated protein kinase (DAPK), twist-related protein (TWIST), DNA-binding protein inhibitor (ID4), High In Normal-1 (HIN-1), cyclin-dependent kinase inhibitor 2A (p16), cyclin D2 and retinoic acid receptor-β (RARβ1) genes was analyzed by methylation specific polymerase chain reaction (MSP) in 200 archival formalin- fixed paraffin embedded BC tissues divided into 3 groups; benign breast tissues (20), TNBC (80) and non-TNBC (100). 25684485 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE The present study explored the possible associations of dietary intake of one-carbon metabolism-related nutrients with promoter hypermethylation status and expression of retinoic acid receptor-beta (RARB), breast cancer-1 (BRCA1), and Ras association domain family-1, isoform A (RASSF1A) genes in Iranian women with breast cancer (BC). 25805039 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 PosttranslationalModification disease BEFREE Gene-specific methylation of RARβ, and perhaps APC, may interact with PAH-DNA adducts to increase risk of hormone receptor-positive breast cancer. 26407953 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 AlteredExpression disease BEFREE Methylation of glutathione S-transferase P1 (GSTP1), T-cadherin (CDH13), Paired box protein 5 (PAX5), death associated protein kinase (DAPK), twist-related protein (TWIST), DNA-binding protein inhibitor (ID4), High In Normal-1 (HIN-1), cyclin-dependent kinase inhibitor 2A (p16), cyclin D2 and retinoic acid receptor-β (RARβ1) genes was analyzed by methylation specific polymerase chain reaction (MSP) in 200 archival formalin- fixed paraffin embedded BC tissues divided into 3 groups; benign breast tissues (20), TNBC (80) and non-TNBC (100). 25684485 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 PosttranslationalModification disease BEFREE Methylation-associated gene silencing of RARB in areca carcinogens induced mouse oral squamous cell carcinoma. 25197641 2014