ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease GENOMICS_ENGLAND Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. 25949529 2015
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT ACTN1 mutations cause congenital macrothrombocytopenia. 23434115 2013
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease UNIPROT A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 24069336 2013
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 GeneticVariation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 CausalMutation disease CLINVAR
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3554663
Disease: BLEEDING DISORDER, PLATELET-TYPE, 15
BLEEDING DISORDER, PLATELET-TYPE, 15 		0.700 Biomarker disease CTD_human