Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.460 | AlteredExpression | phenotype | BEFREE | This novel mutation identified by us presents with severe thrombocytopenia and normal GPIX (CD42a) expression and is mistaken for immune thrombocytopenia in the neonatal period. | 31789661 | 2020 | ||||
|
0.460 | GeneticVariation | phenotype | BEFREE | The GPIX mutation was recently identified in a Chinese patient with Bernard-Soulier syndrome (BSS), a rare recessive bleeding disorder characterized by thrombocytopenia and giant platelets. | 16251900 | 2006 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | Molecular defects in the genes for GPIbalpha, GPIbbeta, and GPIX give rise to the Bernard-Soulier syndrome, in which thrombocytopenia and giant platelets suggest that this receptor also is involved in platelet production. | 11937271 | 2002 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | Drug-induced thrombocytopenia: localization of the binding site of GPIX-specific quinine-dependent antibodies. | 12738668 | 2003 | ||||
|
0.460 | GeneticVariation | phenotype | CLINVAR | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | 31064749 | 2019 | ||||
|
0.460 | Biomarker | phenotype | CTD_human | Ceftriaxone causes drug-induced immune thrombocytopenia and hemolytic anemia: characterization of targets on platelets and red blood cells. | 15225244 | 2004 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | Anti-GPIX antibodies dose-dependently caused thrombocytopenia and pulmonary thrombosis in hFcR-transgenic but not wild-type mice. | 21652673 | 2011 | ||||
|
0.460 | Biomarker | phenotype | BEFREE | An antibody from a patient with ranitidine-induced thrombocytopenia recognizes a site on glycoprotein IX that is a favored target for drug-induced antibodies. | 9746775 | 1998 | ||||
|
0.460 | Biomarker | phenotype | HPO |