Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
0.120 GeneticVariation disease BEFREE In this report we describe a case of a neonate with congenital thrombocytopenia and a constitutional 4.52 Mb deletion of 3q26.2q26.31 including TERC and the first 2 exons of MECOM, involving MDS1 but not EVI1. 26554871 2016
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
0.120 Biomarker disease BEFREE Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. 22972950 2012
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
0.120 Biomarker disease HPO