Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma. 25846317 2015
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR A Novel SHOC2 Variant in Rasopathy. 25137548 2014
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation. 25331583 2014
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. 23918763 2013
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146 2012
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061 2011
dbSNP: rs267607048
rs267607048
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605 2009