Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Neonatal Alloimmune Thrombocytopenia
0.770 GeneticVariation disease BEFREE Neonatal alloimmune thrombocytopenia due to a new alloantigen Bl(a) defined by an Asp458Gly substitution in GPIIIa. 30488955 2019
Neonatal Alloimmune Thrombocytopenia
0.770 GeneticVariation disease BEFREE A putative novel mutation in Exon 10 of the integrin β-3 (ITGB3) gene from an unsolved case of fetal neonatal alloimmune thrombocytopenia was also detected. 28370162 2017
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease BEFREE Next, it was determined that the cause of NAIT in both cases was the HPA-21bw antigen, as shown by the mothers' antibodies reacting with the mutated GPIIIa-transfected cells, but not with transfectants expressing wild-type GPIIIa. 22211425 2012
Neonatal Alloimmune Thrombocytopenia
0.770 SusceptibilityMutation disease ORPHANET New low-frequency platelet glycoprotein polymorphisms associated with neonatal alloimmune thrombocytopenia. 19821948 2010
Neonatal Alloimmune Thrombocytopenia
0.770 GeneticVariation disease LHGDN A new platelet polymorphism Duv(a+), localized within the RGD binding domain of glycoprotein IIIa, is associated with neonatal thrombocytopenia. 12036875 2002
Neonatal Alloimmune Thrombocytopenia
0.770 GeneticVariation disease BEFREE Human platelet alloantigen (HPA) 6b, which associates with residue Gln 489 of platelet membrane glycoprotein IIIa, has been described as a cause of NAIT. 9271820 1997
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease BEFREE In this report, we describe the molecular characterization of a new alloantigen (La(a)) on GPIIIa responsible for neonatal alloimmune thrombocytopenia (NAIT). 9116286 1997
Neonatal Alloimmune Thrombocytopenia
0.770 GeneticVariation disease BEFREE The platelet antigens, PlA1 and PlA2, are responsible for most cases of posttransfusion purpura (PTP) and neonatal alloimmune thrombocytopenia (NAIT) in the caucasian population and are determined by two allelic forms of the platelet glycoprotein GPIIIa gene. 7519475 1994
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease CTD_human "Amino acid 489 is encoded by a mutational ""hot spot"" on the beta 3 integrin chain: the CA/TU human platelet alloantigen system." 7694683 1993
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease CTD_human Sra, a private platelet antigen on glycoprotein IIIa associated with neonatal alloimmune thrombocytopenia. 2257303 1990
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease GENOMICS_ENGLAND
Neonatal Alloimmune Thrombocytopenia
0.770 Biomarker disease HPO