Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypobetalipoproteinemia, Familial APOB disease C1862596 GeneticVariation 0.5 orphanet , disgenet
Hypobetalipoproteinemia, Familial APOB disease C1862596 CausalMutation 0.5 orphanet , disgenet
Hypobetalipoproteinemia, Familial APOB disease C1862596 AlteredExpression 0.5 orphanet , disgenet
Hypobetalipoproteinemia, Familial APOB disease C1862596 Biomarker 0.5 orphanet , disgenet
Hypobetalipoproteinemia, Familial PCSK9 disease C1862596 GeneticVariation 0.09 orphanet , disgenet
Hypobetalipoproteinemia, Familial PCSK9 disease C1862596 Biomarker 0.09 orphanet , disgenet
Hypobetalipoproteinemia, Familial ANGPTL3 disease C1862596 GeneticVariation 0.04 orphanet , disgenet
Hypobetalipoproteinemia, Familial MTTP disease C1862596 GeneticVariation 0.03 orphanet , disgenet
Hypobetalipoproteinemia, Familial MTTP disease C1862596 AlteredExpression 0.03 orphanet , disgenet
Hypobetalipoproteinemia, Familial NPC1L1 disease C1862596 GeneticVariation 0.01 orphanet , disgenet
Hypobetalipoproteinemia, Familial TYRP1 disease C1862596 GeneticVariation 0.01 disgenet
Hypobetalipoproteinemia, Familial MT1B disease C1862596 AlteredExpression 0.01 disgenet
Hypobetalipoproteinemia, Familial EFNA5 disease C1862596 Biomarker 0.01 disgenet
Hypobetalipoproteinemia, Familial PLA2G7 disease C1862596 AlteredExpression 0.01 disgenet
Hypobetalipoproteinemia, Familial LPA disease C1862596 AlteredExpression 0.01 disgenet
Hypobetalipoproteinemia, Familial APOC2 disease C1862596 Biomarker 0.01 disgenet
Hypobetalipoproteinemia, Familial APOE disease C1862596 GeneticVariation 0.01 disgenet
Hypobetalipoproteinemia, Familial APOC3 NA C1862596 NA NA orphanet
Hypobetalipoproteinemia, Familial MYLIP NA C1862596 NA NA orphanet
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