rs267607042, SETBP1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
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 Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
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 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 GeneticVariation CLINVAR
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 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
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