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 Biomarker CLINGEN We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. 26952712

2016

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN In in vitro assays, melanin synthesis in human melanoma cells expressing SHP-2 with LS-associated mutations was higher than in cells expressing normal SHP-2, suggesting that LS-associated SHP-2 mutations might enhance melanin synthesis in melanocytes, and that the activation of Akt/mTOR signalling may contribute to this process. 25917897

2015

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN 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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 19864201

2009

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
1.000 Biomarker CLINGEN We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple café au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12. 12058348

2002