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: 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: 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: C0346011
Disease: Fibrofolliculoma
Fibrofolliculoma
0.010 Biomarker disease BEFREE To clarify their possible relationship to SCL, 25 cases of trichodiscoma and fibrofolliculoma with stromal "lipomatous metaplasia" were collected and examined using immunohistochemical stains [CD34 and retinoblastoma-1 (RB1) protein] and fluorescence in situ hybridization (RB1 deletion). 30908293 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
CUI: C1704237
Disease: Trichodiscoma
Trichodiscoma
0.010 Biomarker disease BEFREE To clarify their possible relationship to SCL, 25 cases of trichodiscoma and fibrofolliculoma with stromal "lipomatous metaplasia" were collected and examined using immunohistochemical stains [CD34 and retinoblastoma-1 (RB1) protein] and fluorescence in situ hybridization (RB1 deletion). 30908293 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
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
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 Biomarker disease BEFREE Here, we found that AIM2 expression was significantly decreased in RCC patient specimens and renal carcinoma cell lines (786-O and OSRC-2). 30160343 2018
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases
0.010 GeneticVariation group BEFREE The present analysis investigated the prevalence of the nucleotide polymorphism A153104G, which is located at intron 18 of the RB1 gene, and investigated the impact of the polymorphic variability in the exon 19 and its flanking intronic sequences on the severity of cervical disease in HPV16-positive Greek women. 30303478 2018
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia
0.010 GeneticVariation disease BEFREE Moreover, sequence analysis of the amplicons revealed that the polymorphic variability in the RB1 gene increased with the severity of the cervical dysplasia. 30303478 2018
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis
0.010 AlteredExpression disease BEFREE The results showed that miR-4331 elevated mitochondrial Ca<sup>2+</sup> level, reduced MMP, targets Retinoblastoma 1 (RB1), upregulated IL1RAP, and induced activation of p38 MAPK pathway during TGEV infection. 29217619 2018
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.010 GeneticVariation disease BEFREE Moreover, sequence analysis of the amplicons revealed that the polymorphic variability in the RB1 gene increased with the severity of the cervical dysplasia. 30303478 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 AlteredExpression disease BEFREE Here, we found that AIM2 expression was significantly decreased in RCC patient specimens and renal carcinoma cell lines (786-O and OSRC-2). 30160343 2018
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation phenotype BEFREE The link between the observed polymorphic variability and the progress of cervical disease was reflected in the molecular evolutionary analysis that was performed on the exon 19 of the RB1 gene, since negative selective pressure was acting upon exon 19 in the control and low-grade squamous intraepithelial lesion (LSIL) cervical samples, while positive selective pressure was acting upon exon 19 in the high-grade squamous intraepithelial lesion (HSIL) specimens. 30303478 2018
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
0.010 GeneticVariation phenotype BEFREE The A153104G nucleotide polymorphism did not emerge as a potential biomarker for the development of precancerous lesions in the Greek patients, while the accumulation of sequence variations in RB1 gene might influence patients' susceptibility towards the progression of cervical neoplasia. 30303478 2018
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
Large cell neuroendocrine carcinoma
0.010 Biomarker disease BEFREE The same outcome for chemotherapy treatment was observed in LCNEC tumors harboring an <i>RB1</i> mutation or lost RB1 protein.<b>Conclusions:</b> Patients with LCNEC tumors that carry a wild-type <i>RB1</i> gene or express the RB1 protein do better with NSCLC-GEM/TAX treatment than with SCLC-PE chemotherapy. 29066508 2018
Low Grade Squamous Intraepithelial Neoplasia
0.010 GeneticVariation disease BEFREE The link between the observed polymorphic variability and the progress of cervical disease was reflected in the molecular evolutionary analysis that was performed on the exon 19 of the RB1 gene, since negative selective pressure was acting upon exon 19 in the control and low-grade squamous intraepithelial lesion (LSIL) cervical samples, while positive selective pressure was acting upon exon 19 in the high-grade squamous intraepithelial lesion (HSIL) specimens. 30303478 2018
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder
0.010 GeneticVariation phenotype BEFREE MAPK signaling pathway, NF‑kappa B signaling pathway, and Toll‑like receptor signaling pathway were involved in LDABS‑mediated liver regeneration, with Retinoblastoma 1 (Rb1), Cyclin D1, Cyclin‑dependent kinase 4, Mitogen‑activated protein kinase 10 (Mapk10) and CAMP responsive element binding protein 1 genes in the initiation phase, Kirsten rat sarcoma viral oncogene homolog (Kras), tumor protein 53, MYC proto‑oncogene, BHLH transcription factor, Cyclin E1 and Heat shock protein family B (small) member 1 genes in the proliferation phase, Kras, Rb1, Jun proto‑oncogene, AP‑1 transcription factor subunit, Cyclin D2 and Mapk10 genes in the termination phase were identified as key genes in LDABS‑mediated liver regeneration using MAPK signaling PCR array analysis. 29115531 2018
CUI: C0039538
Disease: Teratoma
Teratoma
0.010 AlteredExpression disease BEFREE Teratoma analysis further revealed a role for the transcription factor ZEB1 in RB1-mediated ectoderm differentiation. 28392220 2017
CUI: C0238104
Disease: Chronic endometritis
Chronic endometritis
0.010 AlteredExpression disease BEFREE Increased expressions of ERα, ERβ, PRA, and PRB were observed in the stromal cells of CE patients in comparison to non-CE patients, whereas increased expressions of ERα and ERβ were detected in the glandular cells of CE. 28259137 2017
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.010 Biomarker disease BEFREE To investigate the roles of miR-215 in high-grade glioma and to clarify the regulation of retinoblastoma 1 (RB1) by miR-215. 28573541 2017
CUI: C0687150
Disease: Parathyroid Gland Adenocarcinoma
Parathyroid Gland Adenocarcinoma
0.010 GeneticVariation disease BEFREE Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. 28881068 2017
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma
0.010 AlteredExpression disease BEFREE Teratoma analysis further revealed a role for the transcription factor ZEB1 in RB1-mediated ectoderm differentiation. 28392220 2017
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma
0.010 AlteredExpression disease BEFREE Teratoma analysis further revealed a role for the transcription factor ZEB1 in RB1-mediated ectoderm differentiation. 28392220 2017
CUI: C4722099
Disease: High grade glioma
High grade glioma
0.010 Biomarker disease BEFREE To investigate the roles of miR-215 in high-grade glioma and to clarify the regulation of retinoblastoma 1 (RB1) by miR-215. 28573541 2017