Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 GeneticVariation disease UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 CausalMutation disease CLINVAR
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 GeneticVariation disease CLINVAR
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2
0.700 Biomarker disease CTD_human