×
Entrez Id:
5500
Gene Symbol:
PPP1CB
PPP1CB
0.510
Biomarker
disease
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
0.510
Biomarker
disease
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
0.510
GermlineCausalMutation
disease
ORPHANET
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
0.510
Biomarker
disease
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
0.510
Biomarker
disease
CLINGEN
De novo mutations in moderate or severe intellectual disability.
25356899
2014
×
Entrez Id:
5500
Gene Symbol:
PPP1CB
PPP1CB
0.510
Biomarker
disease
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
0.510
Biomarker
disease
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
0.300
Biomarker
disease
CLINGEN
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
28371260
2017
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5921
Gene Symbol:
RASA1
RASA1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
6237
Gene Symbol:
RRAS
RRAS
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
6654
Gene Symbol:
SOS1
SOS1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
22808
Gene Symbol:
MRAS
MRAS
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
144568
Gene Symbol:
A2ML1
A2ML1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
6016
Gene Symbol:
RIT1
RIT1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5604
Gene Symbol:
MAP2K1
MAP2K1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
6655
Gene Symbol:
SOS2
SOS2
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5922
Gene Symbol:
RASA2
RASA2
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
5605
Gene Symbol:
MAP2K2
MAP2K2
0.300
Biomarker
disease
CLINGEN
×
Entrez Id:
2688
Gene Symbol:
GH1
GH1
0.020
Biomarker
disease
BEFREE
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
26096762
2015