Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Systemic carnitine deficiency SLC22A5 disease C0342788 GeneticVariation 1 orphanet , disgenet
Systemic carnitine deficiency SLC22A5 disease C0342788 GermlineCausalMutation 1 orphanet , disgenet
Systemic carnitine deficiency SLC22A5 disease C0342788 CausalMutation 1 orphanet , disgenet
Systemic carnitine deficiency SLC22A5 disease C0342788 AlteredExpression 1 orphanet , disgenet
Systemic carnitine deficiency SLC22A5 disease C0342788 Biomarker 1 orphanet , disgenet
Systemic carnitine deficiency CACNA1C disease C0342788 Biomarker 0.3 disgenet
Systemic carnitine deficiency UBIAD1 disease C0342788 AlteredExpression 0.1 disgenet
Systemic carnitine deficiency MIR3936HG disease C0342788 GeneticVariation 0.1 disgenet
Systemic carnitine deficiency MIR3936HG disease C0342788 CausalMutation 0.1 disgenet
Systemic carnitine deficiency UBIAD1 disease C0342788 Biomarker 0.1 disgenet
Systemic carnitine deficiency UBIAD1 disease C0342788 GeneticVariation 0.1 disgenet
Systemic carnitine deficiency DLL3 disease C0342788 GeneticVariation 0.03 disgenet
Systemic carnitine deficiency TBX6 disease C0342788 GeneticVariation 0.03 disgenet
Systemic carnitine deficiency TBX6 disease C0342788 Biomarker 0.03 disgenet
Systemic carnitine deficiency DLL3 disease C0342788 Biomarker 0.03 disgenet
Systemic carnitine deficiency HES7 disease C0342788 GeneticVariation 0.02 disgenet
Systemic carnitine deficiency SCD disease C0342788 Biomarker 0.02 disgenet
Systemic carnitine deficiency CD55 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency CNR1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency WASF1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency INSIG1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency SFTPD disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency SAR1A disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency HMGCR disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency ETFA disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency CHPT1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency CSF2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency ETFDH disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency ACADM disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency GPT disease C0342788 AlteredExpression 0.01 disgenet
Systemic carnitine deficiency FAAH disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency ARG1 disease C0342788 AlteredExpression 0.01 disgenet
Systemic carnitine deficiency BRAP disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency LAMC2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency BEAN1 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency PDK4 disease C0342788 AlteredExpression 0.01 disgenet
Systemic carnitine deficiency TMLHE disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency SERPINE1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency CHKB-CPT1B disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency DMRT2 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency SCD5 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency CPT1B disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency RN7SL263P disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency CPT1A disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency MESP2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency RYR1 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency APOB disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency ETFB disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency CPT2 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency DAGLB disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency ABHD5 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency TGFB1 disease C0342788 AlteredExpression 0.01 disgenet
Systemic carnitine deficiency KMT2A disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency IMPA1 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency SLC22A4 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency ZFYVE9 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency CDH23 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency PNPLA2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency MBL2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency DBH disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency MADD disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency DAGLA disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency HBB disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency RIPPLY2 disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency GZMM disease C0342788 Biomarker 0.01 disgenet
Systemic carnitine deficiency LFNG disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency WASF2 disease C0342788 GeneticVariation 0.01 disgenet
Systemic carnitine deficiency TK2 disease C0342788 Biomarker 0.01 disgenet
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