Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome. 23799168

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 22585553

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). 22528600

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Heart and/or cardiomyocyte lysates from LS/+ mice showed enhanced binding of Shp2 to Irs1, decreased Shp2 catalytic activity, and abrogated agonist-evoked Erk/Mapk signaling. 21339643

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss. 21747628

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. 21910226

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR In conclusion, SHP2 mutations causing LS facilitate EGF-induced PI3K/AKT/GSK-3beta stimulation through impaired GAB1 dephosphorylation, resulting in deregulation of a novel signaling pathway that could be involved in LS pathology. 20308328

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. 20578946

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. 19768645

2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		1.000 CausalMutation CLINVAR Our results indicate that previously enigmatic aspects of LEOPARD syndrome pathogenesis can be explained by the combined effects of loss of Shp2 catalytic function and retention of an SH2 domain-mediated role that is essential for neural crest cell survival. 20493809

2010