Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Methemoglobinemia CYB5R3 disease C0272087 GermlineCausalMutation 0.5 orphanet , disgenet
Congenital Methemoglobinemia CYB5R3 disease C0272087 GeneticVariation 0.5 orphanet , disgenet
Congenital Methemoglobinemia CYB5R3 disease C0272087 Biomarker 0.5 orphanet , disgenet
Congenital Methemoglobinemia CYB5R3 disease C0272087 CausalMutation 0.5 orphanet , disgenet
Congenital Methemoglobinemia CYB5R3 disease C0272087 AlteredExpression 0.5 orphanet , disgenet
Congenital Methemoglobinemia CYB5A disease C0272087 GeneticVariation 0.32 orphanet , disgenet
Congenital Methemoglobinemia DLD disease C0272087 Biomarker 0.01 disgenet
Congenital Methemoglobinemia HBB disease C0272087 GeneticVariation 0.01 orphanet , disgenet
Congenital Methemoglobinemia HBG2 disease C0272087 GeneticVariation 0.01 disgenet
Congenital Methemoglobinemia DECR1 disease C0272087 Biomarker 0.01 disgenet
Congenital Methemoglobinemia HBA2 NA C0272087 NA NA orphanet
Congenital Methemoglobinemia HBA1 NA C0272087 NA NA orphanet
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