Disease: BLEEDING DISORDER, PLATELET-TYPE, 21 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 GeneticVariation disease UNIPROT Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. 28255014 2017
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 Biomarker disease GENOMICS_ENGLAND Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. 28255014 2017
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 GeneticVariation disease UNIPROT Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. 26316623 2015
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 GeneticVariation disease UNIPROT Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. 24100448 2013
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 CausalMutation disease CLINVAR
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 GeneticVariation disease CLINVAR
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 Biomarker disease CTD_human
CUI: C4479515
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21
BLEEDING DISORDER, PLATELET-TYPE, 21 		0.700 Biomarker disease GENOMICS_ENGLAND