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: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation disease CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 CausalMutation disease CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 Biomarker disease BEFREE While SEA, SEB and SEC have been found in the sera and tissues of SIDS cases, little is known about the role of intestinal Staphylococcus aureus or the roles of later-described toxins SEE, SEG, SEH, SEI and SEJ in SIDS. 19702876 2009
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 Biomarker group BEFREE What's more, MG7-scFv/SEB synergized with TNF-α in further reducing the growth of gastric tumors in gastric-tumor-bearing rats as compared to mono therapy. 23016583 2013
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation disease CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 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: 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
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia 		0.080 GeneticVariation disease BEFREE We performed CSF3R, SRSF2 and SETBP1 mutational analyses in 10 CNL and 56 CMML patients. 28209919 2017
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.050 Biomarker disease BEFREE We investigated the proliferative responses of peripheral blood mononuclear cells (PBMC) from 10 patients with an infective exacerbation of AD and six normal controls to the staphylococcal superantigens, staphylococcal enterotoxin A and B (SEA, SEB) and toxic shock syndrome toxin-1 (TSST-1), and the mitogens phytohaemagglutinin (PHA) and concanavalin A (Con A). 10931129 2000
CUI: C0013595
Disease: Eczema
Eczema 		0.050 Biomarker disease BEFREE We investigated the proliferative responses of peripheral blood mononuclear cells (PBMC) from 10 patients with an infective exacerbation of AD and six normal controls to the staphylococcal superantigens, staphylococcal enterotoxin A and B (SEA, SEB) and toxic shock syndrome toxin-1 (TSST-1), and the mitogens phytohaemagglutinin (PHA) and concanavalin A (Con A). 10931129 2000
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.050 Biomarker disease BEFREE We investigated the colonizing features of S. aureus in AD lesions using electron microscopy, the distribution of SEB in the eczematous skin of AD using immunofluorescence, the effects of SEA and SEB on normal human epidermal keratinocytes in organ culture, and the presence of specific IgE antibodies to SEA and/or SEB in serum of AD patients by enzyme immunoassay. 10457116 1999
CUI: C0013595
Disease: Eczema
Eczema 		0.050 Biomarker disease BEFREE We investigated the colonizing features of S. aureus in AD lesions using electron microscopy, the distribution of SEB in the eczematous skin of AD using immunofluorescence, the effects of SEA and SEB on normal human epidermal keratinocytes in organ culture, and the presence of specific IgE antibodies to SEA and/or SEB in serum of AD patients by enzyme immunoassay. 10457116 1999
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 GeneticVariation disease BEFREE We investigated possible alteration of the SETBP1, splicing factor 3B subunit 1 (SF3B1), U2 small nuclear RNA auxiliary factor 1 (U2AF1), and serine/arginine-rich splicing factor 2 (SRSF2) genes in childhood AML. 25553291 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 Biomarker disease BEFREE We assessed the frequency and clinicopathologic significance of 19 genes currently identified as significantly mutated in myeloid neoplasms, RUNX1, ASXL1, TET2, CEBPA, IDH1, IDH2, DNMT3A, FLT3, NPM1, TP53, NRAS, EZH2, CBL, U2AF1, SF3B1, SRSF2, JAK2, CSF3R, and SETBP1, across 93 cases of acute myeloid leukemia (AML) using capture target enrichment and next-generation sequencing. 25412851 2015
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 Biomarker disease BEFREE We analyzed SETBP1 in 1 130 patients with MPN and MDS/MPN overlap and found mutation frequencies of 3.8% and 9.4%, respectively. 23628959 2013
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		0.060 Biomarker disease BEFREE TSST-1 was better able to stimulate chemokine (IL-8 and MIP-3α) production by HVECs than SEB and SEC, suggesting this is the reason for TSST-1's exclusive association with menstrual TSS. 30890614 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.050 Biomarker disease 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: C0013595
Disease: Eczema
Eczema 		0.050 Biomarker disease 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.090 Biomarker group BEFREE This paper has highlighted that TGFαL3-SEB has the potential to target EGFR expressing cancer cell. 30471512 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 Biomarker group BEFREE This paper has highlighted that TGFαL3-SEB has the potential to target EGFR expressing cancer cell. 30471512 2019