Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling. 27466182

2016
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells. 22606262

2012
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. 21548061

2011
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035

2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.700 Biomarker CLINGEN 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
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982

2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344

2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673

2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385

2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. 24211266

2013
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.510 Biomarker CLINGEN A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as an M-Ras effector to modulate Raf activity. 16630891

2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. 28371260

2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker CLINGEN