rs267607048, SHOC2

N. diseases: 16
Disease: Short stature ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146 2012
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009