SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
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
dbSNP: rs6507583
rs6507583
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma
A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs9954058
rs9954058
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma
C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs10853525
rs10853525
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0429097
Disease:
QRS complex feature
0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs17782904
rs17782904
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0010051
Disease:
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
dbSNP: rs17782904
rs17782904
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026691
Disease:
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
dbSNP: rs991014
rs991014
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0429097
Disease:
QRS complex feature
0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
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
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
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
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
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
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
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
dbSNP: rs6507583
rs6507583
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
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
dbSNP: rs1057519594
rs1057519594
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
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
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
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
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR Somatic SETBP1 mutations in myeloid malignancies. 23832012 2013