Entrez Id: |
3265 |
Gene Symbol: |
HRAS |
HRAS
|
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
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
4893 |
Gene Symbol: |
NRAS |
NRAS
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5921 |
Gene Symbol: |
RASA1 |
RASA1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
6237 |
Gene Symbol: |
RRAS |
RRAS
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
3845 |
Gene Symbol: |
KRAS |
KRAS
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
6654 |
Gene Symbol: |
SOS1 |
SOS1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
22808 |
Gene Symbol: |
MRAS |
MRAS
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
144568 |
Gene Symbol: |
A2ML1 |
A2ML1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5894 |
Gene Symbol: |
RAF1 |
RAF1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
6016 |
Gene Symbol: |
RIT1 |
RIT1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5604 |
Gene Symbol: |
MAP2K1 |
MAP2K1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
6655 |
Gene Symbol: |
SOS2 |
SOS2
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
8216 |
Gene Symbol: |
LZTR1 |
LZTR1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5922 |
Gene Symbol: |
RASA2 |
RASA2
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5605 |
Gene Symbol: |
MAP2K2 |
MAP2K2
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker |
CLINGEN |
|
|
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
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
|
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
|
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
|
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
|
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
|
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
|
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: |
8036 |
Gene Symbol: |
SHOC2 |
SHOC2
|
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 |