Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND Noonan syndrome and clinically related disorders. 21396583 2011
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 GeneticVariation disease UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 Biomarker disease GENOMICS_ENGLAND HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351 2006
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 GeneticVariation disease CLINVAR
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 CausalMutation disease CLINVAR
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 Biomarker disease CTD_human