Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
0.700 GeneticVariation disease UNIPROT A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. 26936507 2016
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
0.700 Biomarker disease GENOMICS_ENGLAND A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. 26936507 2016
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
0.700 GermlineCausalMutation disease ORPHANET A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. 26936507 2016
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
0.700 CausalMutation disease CLINVAR
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
0.700 Biomarker disease CTD_human