rs267607042, SETBP1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 GeneticVariation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 GeneticVariation UNIPROT Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011 2013
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.700 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083 2013
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010