rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.
22058153
2012
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.
21677813
2011
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.
21803945
2011
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
21910226
2011
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
19582499
2009
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation.
19273734
2009
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.
18241070
2008
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
16733669
2006
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
rs397507549
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.700
CausalMutation
CLINVAR
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
15889278
2005