Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
0.800 CausalMutation disease CLINVAR In order to understand the contribution of SHOC2 mutations to the clinical manifestations of Noonan syndrome and related disorders, we analyzed SHOC2 in 92 patients with Noonan syndrome and related disorders who did not exhibit PTPN11, KRAS, HRAS, BRAF, MAP2K1/2, SOS1 or RAF1 mutations. 20882035 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
0.800 Biomarker disease CLINGEN In order to understand the contribution of SHOC2 mutations to the clinical manifestations of Noonan syndrome and related disorders, we analyzed SHOC2 in 92 patients with Noonan syndrome and related disorders who did not exhibit PTPN11, KRAS, HRAS, BRAF, MAP2K1/2, SOS1 or RAF1 mutations. 20882035 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
0.800 Biomarker disease GENOMICS_ENGLAND Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
0.800 Biomarker disease CTD_human Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
0.800 CausalMutation disease CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009