RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.600 AlteredExpression disease BEFREE To directly investigate the effects of PR isoform expression on the breast cancer proteome, both in the presence and absence of progestin, PRA and PRB were independently stably expressed in T47DC42 PR-null breast cancer cells using a doxycycline (Dox)-regulated promoter. 31809870 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.600 AlteredExpression disease BEFREE To directly investigate the effects of PR isoform expression on the breast cancer proteome, both in the presence and absence of progestin, PRA and PRB were independently stably expressed in T47DC42 PR-null breast cancer cells using a doxycycline (Dox)-regulated promoter. 31809870 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The oncogenic effect of HPV16-E7 relies on its binding to the tumor suppressor pRb protein leading to a dysregulated cell duplication. 31806970 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE The der(X) region harboring the RB1 gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma. 31806026 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.010 GeneticVariation disease BEFREE A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. 31806026 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE Retinoblastoma (RB) is a childhood eye tumor, caused by the RB1 gene mutation. 31781967 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.030 GeneticVariation disease BEFREE EGFR/TP53/RB1-mutant lung cancers are at unique risk of histologic transformation, with 25% presenting with de novo SCLC or eventual small cell transformation. 31228622 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE This study might be an important report on emphazing the mutational status of other genes in patients without RB1 gene mutations and having high risk for developing Rb. 31207142 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.400 GeneticVariation disease BEFREE Advanced-stage HCC (BCLC B/C) showed higher frequencies of splicing factor 3b subunit 1 (SF3B1) (P = 0.0003), TP53 (P = 0.0006), and RB Transcriptional Corepressor 1 mutations (P = 0.03). 31206197 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.800 GeneticVariation disease BEFREE The retinoblastoma RB1 gene has been identified in the 80s as the first tumor suppressor. 31176618 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The retinoblastoma RB1 gene has been identified in the 80s as the first tumor suppressor. 31176618 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.360 Biomarker phenotype BEFREE Interestingly, ectopic expression of miR-200b in the Caki-1 and OSRC-2 cell lines suppresses cell migration and invasion in vitro as well as tumor metastases in vivo. 31130475 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE Interestingly, ectopic expression of miR-200b in the Caki-1 and OSRC-2 cell lines suppresses cell migration and invasion in vitro as well as tumor metastases in vivo. 31130475 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 Biomarker group BEFREE Interestingly, ectopic expression of miR-200b in the Caki-1 and OSRC-2 cell lines suppresses cell migration and invasion in vitro as well as tumor metastases in vivo. 31130475 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.030 Biomarker disease BEFREE Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes. 31060523 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 Biomarker disease BEFREE Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes. 31060523 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 Biomarker disease BEFREE Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes. 31060523 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.360 AlteredExpression phenotype BEFREE Additionally, resveratrol treatment inhibited SG-mediated Rbfox2 localization, further inhibiting RB1 protein expression, and inhibited specific Rbfox2 localization to the cytoplasm in melanoma B16-F10 cells, thereby effectively inhibiting metastasis and tumor growth ability. 31028247 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.050 AlteredExpression phenotype BEFREE RBP fox-1 homolog 2 (Rbfox2), a component of SGs, binds to retinoblastoma 1 (RB1) mRNA, which is closely related to cancer progression; however, the role of Rbfox2 in cancer progression remains largely unknown. 31028247 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.010 Biomarker disease BEFREE 5) the sensitivity for the composite adverse perinatal outcome varied substantially among standards (15% for NICHD to 32% for FMF) given mostly to differences in the FPR, and they subsided when the FPR was set to the same value (10%); 6) the comparison of the AUC revealed a significant improvement for the PRB/NICHD (AUC=0.70) compared to Hadlock (AUC=0.66) and FMF (AUC=0.64) standards for the prediction of perinatal mortality; complementarily, the evaluation of the partial AUC (FPR<10%) revealed that the INTERGROWTH-21 standard had an advantage over the Hadlock standard for NICU admissions and mechanical ventilation (all, p<0.05). 31006913 2020
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.020 Biomarker disease BEFREE The aim of this study was to investigate the expression and distribution of estrogen receptor (ER)α, ERβ, G-protein-coupled ER-1 (GPER), androgen receptor (AR), progesterone receptor (PR)A, PRB and connective tissue growth factor (CTGF) in the vaginal wall among women who had been treated for cervical cancer with radiotherapy. 30957588 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.020 Biomarker disease BEFREE The aim of this study was to investigate the expression and distribution of estrogen receptor (ER)α, ERβ, G-protein-coupled ER-1 (GPER), androgen receptor (AR), progesterone receptor (PR)A, PRB and connective tissue growth factor (CTGF) in the vaginal wall among women who had been treated for cervical cancer with radiotherapy. 30957588 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.020 Biomarker disease BEFREE The aim of this study was to investigate the expression and distribution of estrogen receptor (ER)α, ERβ, G-protein-coupled ER-1 (GPER), androgen receptor (AR), progesterone receptor (PR)A, PRB and connective tissue growth factor (CTGF) in the vaginal wall among women who had been treated for cervical cancer with radiotherapy. 30957588 2019
Precursor B-lymphoblastic lymphoma/leukemia
0.010 GeneticVariation disease BEFREE Herein, we present cytogenetic and molecular analysis of a case of B-ALL in a 16-year-old Caucasian boy with t(3;9) FOXP1-ABL1 rearrangement and concurrent loss of IKZF1, CDKN2A, and RB1 gene loci, meeting WHO criteria for Ph-like ALL. 30938769 2019
Ph-Like Acute Lymphoblastic Leukemia
0.010 GeneticVariation disease BEFREE Herein, we present cytogenetic and molecular analysis of a case of B-ALL in a 16-year-old Caucasian boy with t(3;9) FOXP1-ABL1 rearrangement and concurrent loss of IKZF1, CDKN2A, and RB1 gene loci, meeting WHO criteria for Ph-like ALL. 30938769 2019