Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease BEFREE Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease BEFREE Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation. 26096993 2016
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease BEFREE Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2016
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 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
0.760 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: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 Biomarker disease CTD_human Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 CausalMutation disease CLINVAR SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. 21371013 2011
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 AlteredExpression disease BEFREE Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 21037274 2011
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease BEFREE De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 CausalMutation disease CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GeneticVariation disease UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 CausalMutation disease CLINVAR Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 CausalMutation disease CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
0.760 GermlineCausalMutation disease ORPHANET
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 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 2016
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 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
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 Biomarker disease CTD_human Targeted resequencing of 70 aCMLs, 574 diverse hematological malignancies and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval (CI) = 16-35%). 23222956 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 GeneticVariation disease UNIPROT Targeted resequencing of 70 aCMLs, 574 diverse hematological malignancies and 344 cancer cell lines identified SETBP1 mutations in 24 cases, including 17 of 70 aCMLs (24.3%; 95% confidence interval (CI) = 16-35%). 23222956 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 GeneticVariation disease BEFREE SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. 23628959 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 GeneticVariation disease BEFREE Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 GeneticVariation disease UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 Biomarker disease CTD_human We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases. 23222956 2013
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.650 GeneticVariation disease UNIPROT In summary, mutated SETBP1 represents a newly discovered oncogene present in aCML and closely related diseases. 23222956 2013