Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Timothy syndrome CACNA1C disease C1832916 GeneticVariation 1 orphanet , disgenet
Timothy syndrome CACNA1C disease C1832916 Biomarker 1 orphanet , disgenet
Timothy syndrome CACNA1C disease C1832916 CausalMutation 1 orphanet , disgenet
Timothy syndrome CACNA1C disease C1832916 GermlineCausalMutation 1 orphanet , disgenet
Timothy syndrome TYMS disease C1832916 Biomarker 0.04 disgenet
Timothy syndrome TYMS disease C1832916 AlteredExpression 0.04 disgenet
Timothy syndrome TYMS disease C1832916 GeneticVariation 0.04 disgenet
Timothy syndrome GH1 disease C1832916 GeneticVariation 0.03 disgenet
Timothy syndrome GH1 disease C1832916 Biomarker 0.03 disgenet
Timothy syndrome VDR disease C1832916 GeneticVariation 0.03 disgenet
Timothy syndrome KCNJ2 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome CHPT1 disease C1832916 AlteredExpression 0.01 disgenet
Timothy syndrome ST14 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome PEX13 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome GRHL3 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome TSC1 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome OGA disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome GPT disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome SPINT1 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome CDK5 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome GSK3B disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome CACNA1F disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome ING2 disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome CDX2 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome CD8A disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome VDI disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome KCNQ1 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome TP53 disease C1832916 AlteredExpression 0.01 disgenet
Timothy syndrome RPGRIP1L disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome HEXD disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome DHDDS disease C1832916 AlteredExpression 0.01 disgenet
Timothy syndrome C1QBP disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome SHOX disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome SHANK3 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome SLC12A3 disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome TESC disease C1832916 GeneticVariation 0.01 disgenet
Timothy syndrome AMELX disease C1832916 Biomarker 0.01 disgenet
Timothy syndrome TH disease C1832916 AlteredExpression 0.01 disgenet
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