Gene: SHOC2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

2013
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. 23786871

2013
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 23885229

2013
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. 22253195

2012
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. 22995099

2012
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. 22419608

2012
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061

2011
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035

2010
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009