SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
0.010 Biomarker disease BEFREE These results initially clarified that therapeutic activities of SA in acne vulgaris treatment could be associated with the regulation of SREBP-1 pathway and NF-κB pathway in human SEB-1 sebocytes. 30972839 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE Growth-inhibitory effects of TGFαL3-SEB chimeric protein on colon cancer cell line. 30471512 2019
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 Biomarker group BEFREE To assess the relation between the total IgE (tIgE) and asIgE targeted against SEA (SEA-sIgE) and SEB (SEB-sIgE), as indicators of the severity of the course of AD, and the presence of S. aureus on apparently healthy skin, in skin lesions and in the nasal vestibule. 31616226 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE Growth-inhibitory effects of TGFαL3-SEB chimeric protein on colon cancer cell line. 30471512 2019
CUI: C0702166
Disease: Acne
Acne
0.010 Biomarker disease BEFREE These results initially clarified that therapeutic activities of SA in acne vulgaris treatment could be associated with the regulation of SREBP-1 pathway and NF-κB pathway in human SEB-1 sebocytes. 30972839 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 GeneticVariation group BEFREE In clinical course, the CNL concurrently with severe bone marrow fibrosis and dysplastic features as well as X chromosomal abnormality may predict a worsening prognosis regardless of SETBP1 mutation status. 29587671 2018
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
0.010 GeneticVariation disease BEFREE In AML, patients with SETBP1 mutations showed higher hemoglobin (P = 0.004) and were more frequently recurrent in AML-M4 subtype (P = 0.034). 29549983 2018
Monoclonal Gammopathy of Undetermined Significance
0.010 GeneticVariation disease BEFREE Intronic-PREX1 (20q13.13), a reported locus predisposing to MM was confirmed to have contribution to excess MGUS risk in interaction with SETBP1, a well-established candidate predisposing to myeloid malignancies. 30134812 2018
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.010 GeneticVariation disease BEFREE In clinical course, the CNL concurrently with severe bone marrow fibrosis and dysplastic features as well as X chromosomal abnormality may predict a worsening prognosis regardless of SETBP1 mutation status. 29587671 2018
Malignant neoplasm of colon and/or rectum
0.010 AlteredExpression disease BEFREE Our results suggest that SETBP1 expression is mainly similar o lower in colorectal cancer tissue compared to normal colonic mucosa. 29796729 2018
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation disease BEFREE In women with asthma, rs2806489 was associated with sensitization to SEB and age at asthma onset. 28034578 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 Biomarker group BEFREE Participants were recruited during the autumn of 2013 from three school subtypes: SE for adolescents with intellectual/physical disabilities (SEI; n = 13), behavioural/emotional difficulties (SEB; n = 136) and learning disabilities/developmental disorders (SEL; n = 214). 27767230 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 GeneticVariation disease BEFREE Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. 28419882 2017
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 Biomarker disease BEFREE Neutralization of superantigens, including SEB and TSST-1, has proven to be protective in several animal models of toxic shock and sepsis. 27715466 2017
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE Neutralization of superantigens, including SEB and TSST-1, has proven to be protective in several animal models of toxic shock and sepsis. 27715466 2017
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
0.010 Biomarker disease BEFREE SETBP1 is a major oncogene in myeloid neoplasms, which cooperates with various genetic events and causes distinct phenotypes of MDS/MPN and sAML. 28447248 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 GeneticVariation disease BEFREE The studies of mouse models confirmed biological significance of SETBP1 mutations in myeloid leukemogenesis, particularly associated with ASXL1 mutations. 28447248 2017
Myelodysplastic-Myeloproliferative Diseases
0.010 GeneticVariation group BEFREE Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). 28447248 2017
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
0.010 GeneticVariation disease BEFREE SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. 28346496 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.010 GeneticVariation disease BEFREE Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. 28419882 2017
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 Biomarker disease BEFREE These findings collectively demonstrate a tumour suppressor role of miR-211-5p in TNBC progression by targeting SETBP1, suggesting that miR-211-5p could serve as a potential prognostic biomarker and therapeutic target for TNBC. 28571042 2017
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 Biomarker disease BEFREE These findings collectively demonstrate a tumour suppressor role of miR-211-5p in TNBC progression by targeting SETBP1, suggesting that miR-211-5p could serve as a potential prognostic biomarker and therapeutic target for TNBC. 28571042 2017
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
0.010 GeneticVariation disease BEFREE We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity. 26389776 2016
CUI: C1959632
Disease: Plasma Cell Neoplasm
Plasma Cell Neoplasm
0.010 GeneticVariation disease BEFREE We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity. 26389776 2016
CUI: C3665444
Disease: Neutrophilia (disorder)
Neutrophilia (disorder)
0.010 GeneticVariation disease BEFREE We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity. 26389776 2016