DisGeNET - a database of gene-disease associations

SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607042

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

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

dbSNP:

rs6507583

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0678222
Disease:

Breast Carcinoma

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

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C4015141
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 29

0.700

CausalMutation

CLINVAR

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

25217958

2014

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

25217958

2014

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo mutations in moderate or severe intellectual disability.

25356899

2014

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

25217958

2014

dbSNP:

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

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

24267886

2013

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Somatic SETBP1 mutations in myeloid malignancies.

23832012

2013

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Somatic SETBP1 mutations in myeloid malignancies.

23832012

2013

dbSNP:

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

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

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

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

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

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

dbSNP:

rs267607042

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

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

dbSNP:

rs267607042

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:

rs267607042

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:

rs267607042

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:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

23020937

2012

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

23020937

2012

dbSNP:

rs1555706391

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

CUI:	C0432072
Disease:

Dysmorphic features

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