rs267607042, SETBP1

N. diseases: 5
Disease: Schinzel-Giedion syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 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
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
0.800 GeneticVariation CLINVAR