Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Elliptocytoses, Hereditary EPB41 disease C0013902 Biomarker 0.83 orphanet , disgenet
Elliptocytoses, Hereditary EPB41 disease C0013902 GeneticVariation 0.83 orphanet , disgenet
Elliptocytoses, Hereditary EPB41 disease C0013902 GermlineCausalMutation 0.83 orphanet , disgenet
Elliptocytoses, Hereditary EPB41 disease C0013902 CausalMutation 0.83 orphanet , disgenet
Elliptocytoses, Hereditary SPTB disease C0013902 GermlineCausalMutation 0.75 orphanet , disgenet
Elliptocytoses, Hereditary SPTB disease C0013902 Biomarker 0.75 orphanet , disgenet
Elliptocytoses, Hereditary SPTB disease C0013902 GeneticVariation 0.75 orphanet , disgenet
Elliptocytoses, Hereditary SLC4A1 disease C0013902 GeneticVariation 0.62 orphanet , disgenet
Elliptocytoses, Hereditary SLC4A1 disease C0013902 Biomarker 0.62 orphanet , disgenet
Elliptocytoses, Hereditary SPTA1 disease C0013902 Biomarker 0.48 orphanet , disgenet
Elliptocytoses, Hereditary SPTA1 disease C0013902 GeneticVariation 0.48 orphanet , disgenet
Elliptocytoses, Hereditary SPTA1 disease C0013902 GermlineCausalMutation 0.48 orphanet , disgenet
Elliptocytoses, Hereditary GYPC disease C0013902 GermlineCausalMutation 0.42 orphanet , disgenet
Elliptocytoses, Hereditary GYPC disease C0013902 GeneticVariation 0.42 orphanet , disgenet
Elliptocytoses, Hereditary GYPC disease C0013902 Biomarker 0.42 orphanet , disgenet
Elliptocytoses, Hereditary EPB42 disease C0013902 Biomarker 0.3 disgenet
Elliptocytoses, Hereditary AMMECR1 disease C0013902 Biomarker 0.13 orphanet , disgenet
Elliptocytoses, Hereditary AMMECR1 disease C0013902 GeneticVariation 0.13 orphanet , disgenet
Elliptocytoses, Hereditary KCNE5 disease C0013902 Biomarker 0.1 orphanet , disgenet
Elliptocytoses, Hereditary NHLRC2 disease C0013902 Biomarker 0.1 disgenet
Elliptocytoses, Hereditary ACSL4 disease C0013902 Biomarker 0.1 orphanet , disgenet
Elliptocytoses, Hereditary GATA1 disease C0013902 Biomarker 0.1 disgenet
Elliptocytoses, Hereditary TRNT1 disease C0013902 Biomarker 0.1 disgenet
Elliptocytoses, Hereditary CR1 disease C0013902 Biomarker 0.02 disgenet
Elliptocytoses, Hereditary CR1 disease C0013902 GeneticVariation 0.02 disgenet
Elliptocytoses, Hereditary ANK1 disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary ACTB disease C0013902 Biomarker 0.01 disgenet
Elliptocytoses, Hereditary G6PD disease C0013902 Biomarker 0.01 disgenet
Elliptocytoses, Hereditary SNORD96B disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary PLA1A disease C0013902 Biomarker 0.01 disgenet
Elliptocytoses, Hereditary UGT8 disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary CAT disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary IH disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary TNF disease C0013902 GeneticVariation 0.01 disgenet
Elliptocytoses, Hereditary ADD2 disease C0013902 AlteredExpression 0.01 disgenet
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