Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation CLINVAR 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker HPO