Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

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 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 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
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 The RASopathies. 23875798

2013
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker CLINGEN

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker CLINGEN

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

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: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. 22887781

2012
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 19775298

2009
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. 26467218

2015
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

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 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 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: 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 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 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 The RASopathies. 23875798

2013