Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496

2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416

2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444

2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 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
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.770 GeneticVariation CLINVAR

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker HPO

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496

2017
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 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
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444

2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958

2014
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.400 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		0.400 Biomarker HPO

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 GeneticVariation CLINVAR

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker HPO

Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722

2019
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019