Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002871
Disease: Anemia
Anemia
0.030 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type II (CDAII) is an inherited hyporegenerative anemia due to biallelic mutations in the SEC23B gene. 31400017 2019
CUI: C0002871
Disease: Anemia
Anemia
0.030 GeneticVariation disease BEFREE Loss-of-function SEC23B mutations cause a rare form of anemia, resulting from decreased SEC23B levels. 29893852 2018
CUI: C0002871
Disease: Anemia
Anemia
0.030 Biomarker disease BEFREE HEMPAS, a condition causing anemia and other pathological symptoms, is characterized by impaired biosynthesis of N-glycans, mostly those carried by band 3 and band 4.5 erythrocyte membrane proteins. 14533796 2001