Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality.© 2017 Wiley Periodicals, Inc. 28211982

2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys). 28371260

2017
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385

2016
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN An MRAS, SHOC2, and SCRIB complex coordinates ERK pathway activation with polarity and tumorigenic growth. 24211266

2013
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 Biomarker CLINGEN Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.310 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: 6654
Gene Symbol: SOS1
SOS1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 6237
Gene Symbol: RRAS
RRAS
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 5922
Gene Symbol: RASA2
RASA2
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker CLINGEN