rs267607042, SETBP1

N. diseases: 5
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
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
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
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