Disease: LEOPARD Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease BEFREE NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. 29084544 2017
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 GeneticVariation disease BEFREE LEOPARD syndrome (LS) is an autosomal dominant inherited disorder primarily caused by mutations in the PTPN11, RAF1 and BRAF genes. 27484170 2016
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease BEFREE To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML. 25423878 2015
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease CLINGEN LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease CLINGEN Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 GeneticVariation disease BEFREE PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease CLINGEN Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease GENOMICS_ENGLAND Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 Biomarker disease BEFREE We report on a patient with LEOPARD syndrome and normal intelligence who was found to carry a novel sequence change in BRAF. 19416762 2009
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.650 CausalMutation disease CLINVAR