Gene: SHOC2 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature. 23786871 2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 23885229 2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559 2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146 2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair. 22253195 2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations. 22419608 2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation. 22995099 2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453 2011
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.100 CausalMutation disease CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009