rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
28346496
2017
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
West syndrome in a patient with Schinzel-Giedion syndrome.
25028416
2015
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
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
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25217958
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
De novo mutations in moderate or severe intellectual disability.
25356899
2014
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Somatic SETBP1 mutations in myeloid malignancies.
23832012
2013
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937
2012
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
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
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010
rs1555706391
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
18398855
2008