Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 GeneticVariation disease BEFREE The present report provides clinical data regarding the first association of a RAF1 variant and craniosynostosis in a patient with clinical diagnosis of NSML. 31145547 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 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
0.770 CausalMutation disease CLINVAR Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation. 25706034 2015
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease CLINGEN LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. 24775816 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 GeneticVariation disease BEFREE Gain-of-function mutations in RAF1 can cause NS and the highly related NS with multiple lentigines (previously known as LEOPARD syndrome). 22786616 2012
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 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
0.770 GeneticVariation disease BEFREE PTPN11 mutations cause LEOPARD syndrome (LS) and Noonan syndrome (NS), two disorders that are part of a newly classified family of autosomal dominant syndromes termed "RASopathies," which are caused by germline mutations in components of the RAS/RAF/MEK/ERK mitogen activating protein kinase pathway. 22681964 2011
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 CausalMutation disease CLINVAR 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 CausalMutation disease CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 CausalMutation disease CLINVAR Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling. 19933846 2010
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 GeneticVariation disease BEFREE The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. 19568997 2008
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease GENOMICS_ENGLAND Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease CTD_human 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 Biomarker disease 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 GeneticVariation disease LHGDN 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
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 GeneticVariation disease BEFREE Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
0.770 CausalMutation disease CLINVAR 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