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: 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: 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: 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: 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