Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity. 21910245

2011
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases. 25544017

2015
dbSNP: rs121918457
rs121918457
PTPN11
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
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation. 25917897

2015
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283

2014
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations. 23457302

2013
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization. 22411627

2012
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. 20535210

2010
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26337637

2016
dbSNP: rs121918457
rs121918457
PTPN11
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
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970

2013
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154

2014
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR A novel PTPN11 mutation in LEOPARD syndrome. 14961557

2003
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis. 20493809

2010
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome. 27484170

2016
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Tegumentary manifestations of Noonan and Noonan-related syndromes. 24037001

2013
dbSNP: rs121918457
rs121918457
PTPN11
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
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. 17935252

2007
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175

2011
dbSNP: rs121918457
rs121918457
PTPN11
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
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655

2015
dbSNP: rs121918457
rs121918457
PTPN11
T 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006