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 GeneticVariation disease UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease CLINVAR
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. 25663181 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE These findings support the hypothesis that mutations in SETBP1 causing SGS may have a gain-of-function or a dominant-negative effect, whereas haploinsufficiency or loss-of-function mutations in SETBP1 cause a milder phenotype. 21037274 2011
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. 28346496 2017
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome. 26096993 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases. 23832012 2013
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation disease BEFREE In summary, this work unveils a SETBP1 function that directly affects gene transcription and clarifies the mechanism operating in myeloid malignancies and in the Schinzel-Giedion syndrome caused by SETBP1 mutations. 29875417 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 GeneticVariation disease UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 GeneticVariation disease UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 GeneticVariation disease BEFREE These data indicate that HDAC inhibitors will be promising therapeutic drugs for MDS and AML with ASXL1 and SETBP1 mutations. 30367089 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 GeneticVariation disease BEFREE In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein (SETBP1). 22873195 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.590 GeneticVariation disease BEFREE A total of 1.2% (3/249) of AML and 1.8% (2/114) of MDS patients were found with heterozygous SETBP1 mutations. 29549983 2018
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE Despite the recent identification of recurrent SETBP1 mutations in atypical chronic myeloid leukemia (aCML), a complete description of the somatic lesions responsible for the onset of this disorder is still lacking. 25343957 2015
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies. 25553291 2015
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a recent report on atypical chronic myeloid leukemia (aCML). 23832012 2013
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE SETBP1 variants occur as somatic mutations in several hematological malignancies such as atypical chronic myeloid leukemia and as de novo germline mutations in the Schinzel-Giedion syndrome. 29875417 2018
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE Blast content of the bone marrow revealed an inverse correlation with the mutation status of SETBP1 in aCML and TET2 in CMML, respectively. 30635983 2019
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing. 31692115 2020
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE In particular, there was a high frequency of SETBP1 mutation in aCML (19/60; 31.7%) and MDS/MPN unclassifiable (MDS/MPN, U; 20/240; 9.3%). 23628959 2013
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.590 GeneticVariation disease BEFREE SETBP1 mutations may be associated with an adverse prognosis, so their detection would help in the diagnosis of aCML and the determination of a patient's prognosis. 26017341 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.570 GeneticVariation group BEFREE The SETBP1 mutation is associated with poor prognosis in MDS. 24127063 2014
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.570 GeneticVariation group BEFREE In this study, we used high-resolution melting analysis (HRMA) to detect the SETBP1 mutations in a cohort of 363 patients with AML or MDS. 29549983 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.570 GeneticVariation group BEFREE Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083 2013