Source: CLINGEN

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

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients. 22389993

2012

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN We modeled hypertrophic cardiomyopathy by infecting neonatal and adult rat cardiomyocytes (NRCMs and ARCMs, respectively) with adenoviruses encoding wild-type RAF1 and three Noonan/LEOPARD syndrome-associated RAF1 mutants (S257L, D486N or L613V). 21440552

2011

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757

2010

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker CLINGEN Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2. 17603483

2007

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.650 Biomarker CLINGEN LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816

2013

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.650 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.650 Biomarker CLINGEN Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.650 Biomarker CLINGEN We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. 19416762

2009

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.650 Biomarker CLINGEN Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.520 Biomarker CLINGEN This may be the first patient clinically diagnosed with NSML, caused by a mutation in MAP2K1. 25423878

2015

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.520 Biomarker CLINGEN The RASopathies. 23875798

2013

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.330 Biomarker CLINGEN