Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Infantile Refsums Disease PEX1 disease C0282527 CausalMutation 0.72 orphanet , disgenet
Infantile Refsums Disease PEX1 disease C0282527 GeneticVariation 0.72 orphanet , disgenet
Infantile Refsums Disease PEX1 disease C0282527 GermlineCausalMutation 0.72 orphanet , disgenet
Infantile Refsums Disease PEX1 disease C0282527 Biomarker 0.72 orphanet , disgenet
Infantile Refsums Disease PEX2 disease C0282527 GermlineCausalMutation 0.61 orphanet , disgenet
Infantile Refsums Disease PEX2 disease C0282527 GeneticVariation 0.61 orphanet , disgenet
Infantile Refsums Disease PEX2 disease C0282527 Biomarker 0.61 orphanet , disgenet
Infantile Refsums Disease PEX26 disease C0282527 Biomarker 0.61 orphanet , disgenet
Infantile Refsums Disease PEX26 disease C0282527 GermlineCausalMutation 0.61 orphanet , disgenet
Infantile Refsums Disease PEX26 disease C0282527 GeneticVariation 0.61 orphanet , disgenet
Infantile Refsums Disease PEX5 disease C0282527 Biomarker 0.5 orphanet , disgenet
Infantile Refsums Disease PEX5 disease C0282527 GermlineCausalMutation 0.5 orphanet , disgenet
Infantile Refsums Disease PEX12 disease C0282527 GeneticVariation 0.32 orphanet , disgenet
Infantile Refsums Disease PEX12 disease C0282527 GermlineCausalMutation 0.32 orphanet , disgenet
Infantile Refsums Disease PEX14 disease C0282527 GermlineCausalMutation 0.31 orphanet , disgenet
Infantile Refsums Disease PEX14 disease C0282527 Biomarker 0.31 orphanet , disgenet
Infantile Refsums Disease PEX6 disease C0282527 GeneticVariation 0.31 orphanet , disgenet
Infantile Refsums Disease PEX3 disease C0282527 GeneticVariation 0.31 orphanet , disgenet
Infantile Refsums Disease PEX6 disease C0282527 GermlineCausalMutation 0.31 orphanet , disgenet
Infantile Refsums Disease PEX3 disease C0282527 GermlineCausalMutation 0.31 orphanet , disgenet
Infantile Refsums Disease PEX10 disease C0282527 GermlineCausalMutation 0.3 orphanet , disgenet
Infantile Refsums Disease PEX16 disease C0282527 GermlineCausalMutation 0.3 orphanet , disgenet
Infantile Refsums Disease PEX13 disease C0282527 GermlineCausalMutation 0.3 orphanet , disgenet
Infantile Refsums Disease PEX19 disease C0282527 GermlineCausalMutation 0.3 orphanet , disgenet
Infantile Refsums Disease PEX11B disease C0282527 GermlineCausalMutation 0.3 orphanet , disgenet
Infantile Refsums Disease CAT disease C0282527 Biomarker 0.02 disgenet
Infantile Refsums Disease CAT disease C0282527 GeneticVariation 0.02 disgenet
Infantile Refsums Disease PHEX disease C0282527 GeneticVariation 0.01 disgenet
Infantile Refsums Disease PEX7 disease C0282527 GeneticVariation 0.01 disgenet
Infantile Refsums Disease IGF1 disease C0282527 Biomarker 0.01 disgenet
Infantile Refsums Disease GPD1 disease C0282527 GeneticVariation 0.01 disgenet
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