rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
A
0.700
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs6507583
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Breast Carcinoma
A
0.700
GeneticVariation
GWASCAT
Association analysis identifies 65 new breast cancer risk loci.
29059683
2017
rs9954058
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Breast Carcinoma
C
0.700
GeneticVariation
GWASCAT
Association analysis identifies 65 new breast cancer risk loci.
29059683
2017
rs10853525
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
QRS complex feature
0.700
GeneticVariation
GWASCAT
52 Genetic Loci Influencing Myocardial Mass.
27659466
2016
rs17782904
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Coronary Aneurysm
T
0.700
GeneticVariation
GWASCAT
Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.
27171184
2016
rs17782904
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Mucocutaneous Lymph Node Syndrome
T
0.700
GeneticVariation
GWASCAT
Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.
27171184
2016
rs991014
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
QRS complex feature
0.700
GeneticVariation
GWASCAT
52 Genetic Loci Influencing Myocardial Mass.
27659466
2016
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
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
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
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
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
A
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
rs267607042
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
A
0.700
CausalMutation
CLINVAR
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
25852444
2015
rs6507583
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Breast Carcinoma
A
0.700
GeneticVariation
GWASCAT
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
25751625
2015
rs1057519594
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CT
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs267607040
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Myeloid Leukemia, Chronic
0.700
GeneticVariation
UNIPROT
Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 years.
24976289
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Somatic SETBP1 mutations in myeloid malignancies.
23832012
2013