Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.800 Biomarker CLINGEN Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. 24896146

2015
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.800 Biomarker CLINGEN Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly. 22528146

2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.800 Biomarker 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