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 		0.800 CausalMutation disease CLINVAR Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 24458596 2014
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.800 CausalMutation disease CLINVAR Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 24458587 2014
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.800 CausalMutation disease CLINVAR Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 23918763 2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		0.800 CausalMutation disease CLINVAR 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 		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 CausalMutation disease CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009