rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
21910245
2011
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
25544017
2015
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
19825837
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
25917897
2015
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
24767283
2014
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
15121796
2004
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.
23457302
2013
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.
22411627
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
20535210
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
26337637
2016
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
22585553
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
23813970
2013
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
24935154
2014
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
A novel PTPN11 mutation in LEOPARD syndrome.
14961557
2003
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.
20493809
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
27484170
2016
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Tegumentary manifestations of Noonan and Noonan-related syndromes.
24037001
2013
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
20308328
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
24775816
2013
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.
17935252
2007
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
21365175
2011
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
18372317
2008
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
25884655
2015
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006