Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Carnitine palmitoyl transferase 2 deficiency CPT2 disease C0342790 GeneticVariation 0.5 orphanet , disgenet
Carnitine palmitoyl transferase 2 deficiency CPT2 disease C0342790 Biomarker 0.5 orphanet , disgenet
Carnitine palmitoyl transferase 2 deficiency CPT2 disease C0342790 CausalMutation 0.5 orphanet , disgenet
Carnitine palmitoyl transferase 2 deficiency CPT2 disease C0342790 AlteredExpression 0.5 orphanet , disgenet
Carnitine palmitoyl transferase 2 deficiency DHDDS disease C0342790 AlteredExpression 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency DHDDS disease C0342790 Biomarker 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency DHDDS disease C0342790 GeneticVariation 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency CHPT1 disease C0342790 AlteredExpression 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency CHPT1 disease C0342790 Biomarker 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency CHPT1 disease C0342790 GeneticVariation 0.03 disgenet
Carnitine palmitoyl transferase 2 deficiency SLC25A20 disease C0342790 GeneticVariation 0.02 disgenet
Carnitine palmitoyl transferase 2 deficiency CS disease C0342790 AlteredExpression 0.02 disgenet
Carnitine palmitoyl transferase 2 deficiency ETFDH disease C0342790 GeneticVariation 0.02 disgenet
Carnitine palmitoyl transferase 2 deficiency ETFDH disease C0342790 Biomarker 0.02 disgenet
Carnitine palmitoyl transferase 2 deficiency HADHA disease C0342790 Biomarker 0.01 disgenet
Carnitine palmitoyl transferase 2 deficiency EHHADH disease C0342790 GeneticVariation 0.01 disgenet
Carnitine palmitoyl transferase 2 deficiency GBE1 disease C0342790 Biomarker 0.01 disgenet
Carnitine palmitoyl transferase 2 deficiency MB disease C0342790 Biomarker 0.01 disgenet
Carnitine palmitoyl transferase 2 deficiency FGF21 disease C0342790 Biomarker 0.01 disgenet
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