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: 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: 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