Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Anemia, Dyserythropoietic, Congenital SEC23B disease C0002876 GeneticVariation 0.58 disgenet
Anemia, Dyserythropoietic, Congenital SEC23B disease C0002876 Biomarker 0.58 disgenet
Anemia, Dyserythropoietic, Congenital KLF1 disease C0002876 GeneticVariation 0.56 orphanet , disgenet
Anemia, Dyserythropoietic, Congenital KLF1 disease C0002876 AlteredExpression 0.56 orphanet , disgenet
Anemia, Dyserythropoietic, Congenital KLF1 disease C0002876 Biomarker 0.56 orphanet , disgenet
Anemia, Dyserythropoietic, Congenital C15orf41 disease C0002876 Biomarker 0.51 disgenet
Anemia, Dyserythropoietic, Congenital C15orf41 disease C0002876 GeneticVariation 0.51 disgenet
Anemia, Dyserythropoietic, Congenital CDAN1 disease C0002876 GeneticVariation 0.39 disgenet
Anemia, Dyserythropoietic, Congenital CDAN1 disease C0002876 Biomarker 0.39 disgenet
Anemia, Dyserythropoietic, Congenital LPIN2 disease C0002876 Biomarker 0.31 disgenet
Anemia, Dyserythropoietic, Congenital LPIN2 disease C0002876 GeneticVariation 0.31 disgenet
Anemia, Dyserythropoietic, Congenital MAN2A1 disease C0002876 Biomarker 0.2 disgenet
Anemia, Dyserythropoietic, Congenital GATA1 disease C0002876 GeneticVariation 0.04 disgenet
Anemia, Dyserythropoietic, Congenital GATA1 disease C0002876 Biomarker 0.04 disgenet
Anemia, Dyserythropoietic, Congenital CD44 disease C0002876 Biomarker 0.03 disgenet
Anemia, Dyserythropoietic, Congenital TSPYL2 disease C0002876 Biomarker 0.03 disgenet
Anemia, Dyserythropoietic, Congenital RPS19 disease C0002876 Biomarker 0.02 disgenet
Anemia, Dyserythropoietic, Congenital CDAN3 disease C0002876 GeneticVariation 0.02 disgenet
Anemia, Dyserythropoietic, Congenital AICDA disease C0002876 GeneticVariation 0.02 disgenet
Anemia, Dyserythropoietic, Congenital CDKN2C disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital CDA disease C0002876 GeneticVariation 0.01 disgenet
Anemia, Dyserythropoietic, Congenital CDKN2A disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital RN7SL263P disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital HFE disease C0002876 GeneticVariation 0.01 disgenet
Anemia, Dyserythropoietic, Congenital PARP1 disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital APP disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital AQP1 disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital CAD disease C0002876 GeneticVariation 0.01 disgenet
Anemia, Dyserythropoietic, Congenital MINDY4 disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital GANC disease C0002876 Biomarker 0.01 disgenet
Anemia, Dyserythropoietic, Congenital G6PD disease C0002876 Biomarker 0.01 disgenet
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