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: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		C 0.800 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607039
rs267607039
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607041
rs267607041
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		A 0.800 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
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 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs991014
rs991014
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0018803
Disease:
Heart Function Tests 		T 0.700 GeneticVariation GWASDB Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. 21076409 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: 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 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 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 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
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: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
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
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083 2013