rs267607048, SHOC2

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
0.700 CausalMutation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 CausalMutation CLINVAR
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
0.700 CausalMutation CLINVAR
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CUI: C4478716
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
0.800 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CUI: C4478716
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
0.800 GeneticVariation UNIPROT Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CUI: C4478716
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
0.800 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.750 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009
Noonan-Like Syndrome With Loose Anagen Hair
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
0.050 GeneticVariation BEFREE Twenty-five subjects with a relatively consistent phenotype previously termed Noonan-like syndrome with loose anagen hair (MIM607721) shared the 4A>G missense change in SHOC2 (producing an S2G amino acid substitution) that introduces an N-myristoylation site, resulting in aberrant targeting of SHOC2 to the plasma membrane and impaired translocation to the nucleus upon growth factor stimulation. 19684605 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.750 CausalMutation CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035 2010
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035 2010
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
CUI: C1834120
Disease: NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
0.010 GeneticVariation BEFREE Recently, a gain-of-function mutation in SHOC2, p.S2G, has been identified as causative for a type of Noonan-like syndrome characterized by the presence of loose anagen hair. 20882035 2010
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE All the patients with the p.S2G mutation showed short stature, sparse hair and atopic skin. 20882035 2010
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CUI: C4478716
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
0.800 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011