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: 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: 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: rs1178702025
rs1178702025
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT
dbSNP: rs11874040
rs11874040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11874040
rs11874040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs1276250
rs1276250
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0002170
Disease:
Alopecia 		C 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
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: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 21037274 2011
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: 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 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 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 21037274 2011
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 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 De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
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
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Somatic SETBP1 mutations in myeloid malignancies. 23832012 2013
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
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: 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