Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Smith Lemli Opitz Syndrome DHCR7 disease C0175694 GeneticVariation 1 orphanet , disgenet
Smith Lemli Opitz Syndrome DHCR7 disease C0175694 CausalMutation 1 orphanet , disgenet
Smith Lemli Opitz Syndrome DHCR7 disease C0175694 AlteredExpression 1 orphanet , disgenet
Smith Lemli Opitz Syndrome DHCR7 disease C0175694 Biomarker 1 orphanet , disgenet
Smith Lemli Opitz Syndrome PAX6 disease C0175694 Biomarker 0.2 disgenet
Smith Lemli Opitz Syndrome APOE disease C0175694 Biomarker 0.02 disgenet
Smith Lemli Opitz Syndrome ABCA1 disease C0175694 GeneticVariation 0.02 disgenet
Smith Lemli Opitz Syndrome FDFT1 disease C0175694 GeneticVariation 0.02 disgenet
Smith Lemli Opitz Syndrome ABCA1 disease C0175694 Biomarker 0.02 disgenet
Smith Lemli Opitz Syndrome FDFT1 disease C0175694 Biomarker 0.02 disgenet
Smith Lemli Opitz Syndrome KCNMA1 disease C0175694 Biomarker 0.02 disgenet
Smith Lemli Opitz Syndrome ACADSB disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome RHO disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome GJB6 disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome TRPV1 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome HTR1A disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome NOS1 disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome POMC disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome NOS2 disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome STS disease C0175694 AlteredExpression 0.01 disgenet
Smith Lemli Opitz Syndrome ACAD8 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome FZD5 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome SC5D disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome MED19 disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome SLC22A18 disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome TRPA1 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome CTSD disease C0175694 AlteredExpression 0.01 disgenet
Smith Lemli Opitz Syndrome AUH disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome SAFB disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome FZD1 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome LDLR disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome SHH disease C0175694 GeneticVariation 0.01 disgenet
Smith Lemli Opitz Syndrome CTNNB1 disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome HMGCR disease C0175694 Biomarker 0.01 disgenet
Smith Lemli Opitz Syndrome APEX1 disease C0175694 GeneticVariation 0.01 disgenet
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