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: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		0.100 Biomarker disease HPO
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		0.100 Biomarker phenotype HPO
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		0.100 Biomarker disease HPO
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 PosttranslationalModification disease BEFREE These results suggest that the RB1 gene has a major role in the development of human vestibular schwannomas. 15881662 2005
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 PosttranslationalModification disease LHGDN These results suggest that the RB1 gene has a major role in the development of human vestibular schwannomas. 15881662 2005
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia 		0.300 Biomarker disease CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971 2019
CUI: C2930975
Disease: Acute erythroleukemia - M6a subtype
Acute erythroleukemia - M6a subtype 		0.300 Biomarker disease CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971 2019
CUI: C2930977
Disease: Acute erythroleukemia - M6b subtype
Acute erythroleukemia - M6b subtype 		0.300 Biomarker disease CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971 2019
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.200 Biomarker disease RGD Acute renal failure during sepsis: potential role of cell cycle regulation. 19428114 2009
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 AlteredExpression disease BEFREE In this report we review current studies concerning the RB-1 gene expression in acute leukemias. 9517499 1998
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 GeneticVariation disease BEFREE The aim of this study is to correlate the retinoblastoma-1 (Rb-1) gene mutations with the prognosis and progression of childhood acute leukemia and neuroblastoma. 11255727 2001
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.040 GeneticVariation disease BEFREE Multiple genetic events involving RB1 gene deletion and amplification of chromosome 21 in a case of acute lymphocytic leukemia. 7507704 1994
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.040 GeneticVariation disease BEFREE Structural abnormalities of the RB-1 gene were reported in 18% of ALL-patients and in 27% of Philadelphia chromosome-positive ALL, respectively. 9517499 1998
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.040 AlteredExpression disease BEFREE RB-1 gene expression was detectable in all investigated ALL at different levels. 8757515 1996
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.040 Biomarker disease BEFREE The multiplex ligation-dependent probe amplification (MLPA) method was used to detect the copy number alterations (CNAs) of IKAROS family zinc finger 1 (<i>IKZF1</i>), paired box 5 (<i>PAX5</i>), ETS variant 6 (<i>ETV6</i>), RB transcriptional corepressor 1 (<i>RB1</i>), BTG anti-proliferation factor 1 (<i>BTG1</i>), early B-cell factor 1 (<i>EBF1</i>), cyclin dependent kinase inhibitor 2A/2B (<i>CDKN2A/2B</i>) and cytokine receptor like factor 2 (<i>CRLF2</i>) genes in 87 adults with acute lymphoblastic leukemia (ALL) in China. 29552179 2018
CUI: C2930976
Disease: Acute myeloid leukemia FAB-M6
Acute myeloid leukemia FAB-M6 		0.300 Biomarker disease CTD_human Genomic subtyping and therapeutic targeting of acute erythroleukemia. 30926971 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 PosttranslationalModification group LHGDN Rb localization and phosphorylation kinetics correlate with the cellular phenotype of cultured breast adenocarcinoma cells. 12197776 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group LHGDN Chromosomal imbalances, loss of heterozygosity, and immunohistochemical expression of TP53, RB1, and PTEN in intraductal cancer, intraepithelial neoplasia, and invasive adenocarcinoma of the prostate. 18383208 2008
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 Biomarker group BEFREE Promoter hypermethylation of the p15(INK4b), p16(INK4a), and RB1 genes was detected in 15 (35.7%), 30 (71.4%), and 12 (28.6%) of the adenomas, respectively. 15892297 2005
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 GeneticVariation group BEFREE All 27 exons, intron-exon boundaries, and essential promoter region of RB1 gene were then sequenced in genomic DNA from 4 pituitary adenomas with allelic imbalance on 13q14 including one adenoma without pRb expression and 3 adenomas with pRb expression. 12940460 2003
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 GeneticVariation disease BEFREE Examples include the RB1 gene for retinoblastoma; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers. 8741802 1995
CUI: C0851887
Disease: Adenoviral infections
Adenoviral infections 		0.010 Biomarker group BEFREE PR-negative Hec50co endometrial cancer cells were engineered to express high levels of the A or B isoform of PR (PRA or PRB) by adenoviral infection. 15297189 2004