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 GermlineCausalMutation disease ORPHANET SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. 21371013 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 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 Biomarker disease CTD_human Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
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: 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: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 Biomarker disease GENOMICS_ENGLAND De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 CausalMutation disease CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 GermlineCausalMutation disease ORPHANET De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 CausalMutation disease CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.770 Biomarker disease CTD_human 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.590 AlteredExpression disease BEFREE In addition, we found that either deregulated expression of the endogenous PP2A inhibitors SET or CIP2A, overexpression of SETBP1, or downregulation of some PP2A subunits, might be contributing to PP2A inhibition in AML. 21233840 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.590 Biomarker disease BEFREE In general, somatic SETBP1 mutations have a significant clinical impact on the outcome as poor prognostic factor, due to downstream HOXA-pathway as well as associated aggressive types of chromosomal defects (-7/del(7q) and i(17q)), which is consistent with wild-type SETBP1 activation in aggressive types of acute myeloid leukemia and leukemic evolution. 28447248 2017
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 AlteredExpression disease BEFREE In summary, our data show a novel leukemogenic mechanism through SETBP1 overexpression; moreover, multivariate analysis confirms the negative prognostic impact of SETBP1 overexpression in AML, especially in elderly patients, where it could be used as a predictive factor in any future clinical trials with PP2A activators. 19965692 2010